| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, alacrima, achalasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability Wolff type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Macrocephaly and developmental delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Malan overgrowth syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oro-facial digital syndrome type 14 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Intellectual disability Birk-Barel type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Purine rich element binding protein A syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Jawad syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Developmental and speech delay due to SOX5 deficiency |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 15q overgrowth syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autism spectrum disorder due to AUTS2 deficiency |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| White Sutton syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Warburg micro syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| RAB18 deficiency |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Zechi Ceide syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Roifman syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability with strabismus syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 9q31.1q31.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal Xq28 microduplication syndrome (disorder) |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deafness with onychodystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Ataxia, photosensitivity, short stature syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Piebald trait with neurologic defects syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Blepharophimosis, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Woodhouse Sakati syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| 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. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Blepharonasofacial malformation syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Achalasia microcephaly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability Atkin type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 9 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability with ataxia and apraxia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Fried syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Syndromic X-linked intellectual disability type 11 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Shrimpton type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Siderius type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Stevenson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability Stocco Dos Santos type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Stoll type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Turner type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Van Esch type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability Wilson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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