Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Preferred Label : Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies;

Symbol : NEDDFL;

CISMeF acronym : NEDDFL;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bromodomain PHD finger transcription factor gene (BPTF, 601819.0001);

Prefixed ID : #617755;

Détails

Origin ID

617755;

UMLS CUI

C4540327;

Genes related to phenotype
- Bromodomain phd finger transcription factor [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad eyebrow [HPO term]
- Broad hallux [HPO term]
- Broad nasal tip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Esodeviation [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long nasal bridge [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Overlapping toe [HPO term]
- Pes planus [HPO term]
- Prominent nose [HPO term]
- Sandal gap [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Small hand [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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