| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Disorder of sex development with intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Chromosome Xp11.3 microdeletion syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with precocious puberty and obesity syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability Cabezas type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Xq28-Duplikationssyndrom, proximales |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Aniridia and intellectual disability syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebro-facio-thoracic dysplasia (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cystic leucoencephalopathy without megalencephaly |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebrooculonasal syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Filippi syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Chudley Lowry Hoar syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Fine Lubinsky syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hall Riggs syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oliver syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature with webbed neck and congenital heart disease syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Goldberg Shprintzen megacolon syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Holmes Gang syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Juberg Marsidi syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Blepharonasofacial malformation syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Lowry MacLean syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| DOORS syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Scholte syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| MEDNIK-Syndrom |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Kapur Toriello syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| MEDNIK syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| MEHMO syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculocerebrofacial syndrome Kaufman type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| syndrome d'Okamoto |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital cataract with deafness and hypogonadism syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cataract-hypertrichosis-intellectual disability syndrome is characterised by congenital cataract, generalised 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 |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised 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 |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, developmental delay, contracture syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Skeletal dysplasia with intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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 |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 10 |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 5 |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 8 |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ossification anomaly with psychomotor developmental delay syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe X-linked intellectual disability Gustavson type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Toriello Carey syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly, seizure, intellectual disability, heart disease syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isodicentric chromosome 15 syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Faciocardiorenal syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Fallot complex with intellectual disability and growth delay syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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 |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ramos Arroyo syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypotrichosis and intellectual disability syndrome Lopes type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Non-progressive cerebellar ataxia with intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Phosphoribosylpyrophosphate synthetase superactivity (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Renier Gabreels Jasper syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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