| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive hyperimmunoglobulin M syndrome (disorder) |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive retinitis pigmentosa |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Recessive dystrophic epidermolysis bullosa |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive aplasia cutis congenita of limb (disorder) |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Retinohepatoendocrinologic syndrome (disorder) |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia, characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare congenital disorder of bone resorption characterised by generalised skeletal densification. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Some |
|
| A rare form of disorder of protein N-glycosylation characterised by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). |
Is a |
True |
Autosomal recessive 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]