Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Preferred Label : Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities;

Symbol : NEDCFSA;

CISMeF acronym : NEDCFSA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific demethylase 6B gene (KDM6B, 611577.0002);

Prefixed ID : #618505;

Details

Origin ID

618505;

UMLS CUI

C5193134;

Genes related to phenotype
- Lysine demethylase 6b [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the pinna [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemangioma [HPO term]
- Hyperactivity [HPO term]
- Hypermelanotic macule [HPO term]
- Hypoplastic nipples [HPO term]
- Joint hypermobility [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thick vermilion border [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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