Intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Preferred Label : Intellectual developmental disorder with speech delay, autism, and dysmorphic facies;

Symbol : IDDSADF;

CISMeF acronym : IDDSADF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CCR4-NOT transcription complex, subunit 3 gene (CNOT3, 604910.0001);

Prefixed ID : #618672;

Details

Origin ID

618672;

UMLS CUI

C5231456;

Genes related to phenotype
- Ccr4-not transcription complex, subunit 3 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Depressed nasal ridge [HPO term]
- Dolichocephaly [HPO term]
- Downturned corners of mouth [HPO term]
- Enlarged cisterna magna [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hip dysplasia [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes planus [HPO term]
- Plagiocephaly [HPO term]
- Prominent forehead [HPO term]
- Prominent occiput [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short philtrum [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thick corpus callosum [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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