| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Congenital isolated onychodysplasia |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Diaphyseal medullary stenosis with bone malignancy (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Leri-Weill dyschondrosteosis |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Nievergelt's syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Mannosidosis |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| I-cell disease |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| GM1 gangliosidosis |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Sialic storage disease |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Familial articular hypermobility syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Rett syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurodevelopmental disorder characterised by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behaviour and stereotypic movements are common. The disorder is caused by homozygous or compound heterozygous intragenic deletions or truncating variants in the NRXN1 gene (2p16.3). NRXN1 belongs to the evolutionarily conserved family of neurexins, presynaptic transmembrane proteins and has an important role in synaptic function. Inheritance is autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Spondyloenchondrodysplasia |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Singleton-Merten syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological syndrome of variable severity with characteristics of progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Schöpf-Schulz-Passarge syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]