Cardiac, facial, and digital anomalies with developmental delay

Preferred Label : Cardiac, facial, and digital anomalies with developmental delay;

Symbol : CAFDADD;

CISMeF acronym : CAFDADD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TNF receptor-associated factor 7 gene (TRAF7, 606692.0001);

Prefixed ID : #618164;

Details

Origin ID

618164;

UMLS CUI

C4748484;

Automatic exact mappings (from CISMeF team)
- TRAF7 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cardiac, Facial, and Digital Anomalies with Developmental Delay [NCIt concept]
Genes related to phenotype
- Tnf receptor-associated factor 7 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Clinodactyly [HPO term]
- Coarctation of aorta [HPO term]
- Cystic hygroma [HPO term]
- Delayed speech and language development [HPO term]
- Double outlet right ventricle [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypertonia [HPO term]
- Hypoplastic left heart [HPO term]
- Low-set ears [HPO term]
- Neonatal respiratory distress [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Tethered cord [HPO term]
- Thickened nuchal skin fold [HPO term]
- Umbilical hernia [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac, Facial, and Digital Anomalies with Developmental Delay [NCIt concept]

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