Intellectual developmental disorder, X-linked, syndromic 33

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 33;

Symbol : MRXS33;

CISMeF acronym : MRXS33;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 33;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250-Kd, gene (TAF1, 313650.0002);

Prefixed ID : #300966;

Details

Origin ID

300966;

UMLS CUI

C4225418;

Automatic exact mappings (from CISMeF team)
- TAF1 wt Allele [NCIt concept]
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome [ORDO Disease]
Genes related to phenotype
- Taf1 rna polymerase II, tata box-binding protein-associated factor, 250-kd [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Abnormality of the septum pellucidum [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Aplasia cutis congenita [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Broad chin [HPO term]
- Broad nasal tip [HPO term]
- Bulbous nose [HPO term]
- Caesarian section [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chronic otitis media [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal tip [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dystonia [HPO term]
- Eczema [HPO term]
- Flat occiput [HPO term]
- Gait disturbance [HPO term]
- Gait imbalance [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High, narrow palate [HPO term]
- Hip dysplasia [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Myopia [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Nystagmus [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Pointed chin [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent coccyx [HPO term]
- Prominent forehead [HPO term]
- Prominent protruding coccyx [HPO term]
- Prominent supraorbital ridges [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Reduced tendon reflexes [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short digit [HPO term]
- Short neck [HPO term]
- Sleep-wake cycle disturbance [HPO term]
- Sparse hair [HPO term]
- Spastic diplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Talipes cavus equinovarus [HPO term]
- Thickened ears [HPO term]
- Thickened helices [HPO term]
- Thin upper lip vermilion [HPO term]
- Toenail dysplasia [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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