| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Global developmental delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Development delay NOS |
Is a |
False |
Developmental delay |
Inferred relationship |
Some |
|
| Cognitive developmental delay (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Developmental delay in feeding (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Developmental delay in fine motor function (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Developmental delay in social skills |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Family history of neurological developmental delay |
Associated finding |
True |
Developmental delay |
Inferred relationship |
Some |
1 |
| A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognathia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. |
Is a |
False |
Developmental delay |
Inferred relationship |
Some |
|
| Delay in sexual development AND/OR puberty |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Phonological delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Speech delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Expressive language delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Receptive language delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Delayed pre-verbal development |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Clumsiness - motor delay |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Gross motor development delay (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| PPM-X syndrome |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Developmental delay in receptive-expressive language (disorder) |
Is a |
False |
Developmental delay |
Inferred relationship |
Some |
|
| Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. |
Is a |
False |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| 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 delay |
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 delay |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Is a |
True |
Developmental delay |
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 delay |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. |
Is a |
True |
Developmental delay |
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 delay |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| At increased risk for delayed development |
This attribute specifies the realization of a function |
True |
Developmental delay |
Inferred relationship |
Some |
2 |
| A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low. |
Is a |
True |
Developmental delay |
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 delay |
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 delay |
Inferred relationship |
Some |
|
| A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. |
Is a |
True |
Developmental delay |
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 delay |
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 delay |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Is a |
True |
Developmental delay |
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 delay |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present. |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
| Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) |
Is a |
True |
Developmental delay |
Inferred relationship |
Some |
|
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