| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Juberg Marsidi syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Lowry MacLean syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Scholte syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| MEDNIK-Syndrom |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Kapur Toriello syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| MEDNIK syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| MEHMO syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| syndrome d'Okamoto |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 10 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Oro-facial digital syndrome type 5 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Oro-facial digital syndrome type 8 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Ossification anomaly with psychomotor developmental delay syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital cataract with deafness and hypogonadism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, developmental delay, contracture syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Toriello Carey syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Skeletal dysplasia with intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Isodicentric chromosome 15 syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Faciocardiorenal syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Fallot complex with intellectual disability and growth delay syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Hypotrichosis and intellectual disability syndrome Lopes type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| N syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Non-progressive cerebellar ataxia with intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Phosphoribosylpyrophosphate synthetase superactivity (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ramos Arroyo syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Laryngeal abductor paralysis with intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Kleefstra syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Infantile choroidocerebral calcification syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Temple Baraitser syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 5-amino-4-imidazole carboxamide ribosiduria (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bullous dystrophy macular type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability Buenos Aires type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Neurofaciodigitorenal syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability Hedera type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spastic paraplegia with precocious puberty syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Epilepsy telangiectasia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Pseudoprogeria syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Van den Bosch syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| C syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| McDonough syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| MORM syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| GMS syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Harrod syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Goldblatt Wallis syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephaly with deafness and intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Female restricted epilepsy with intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| FRAXE intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| L1 syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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