Sifrim-hitz-weiss syndrome

Preferred Label : Sifrim-hitz-weiss syndrome;

Symbol : SIHIWES;

CISMeF acronym : SIHIWES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 4 gene (CHD4, 603277.0001);

Prefixed ID : #617159;

Details

Origin ID

617159;

UMLS CUI

C4310688;

Automatic exact mappings (from CISMeF team)
- CHD4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Sifrim-Hitz-Weiss Syndrome [NCIt concept]
Genes related to phenotype
- Chromodomain helicase dna-binding protein 4 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ambiguous genitalia [HPO term]
- Anteriorly placed anus [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chiari malformation [HPO term]
- Coarctation of aorta [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Epicanthus [HPO term]
- Flat acetabular roof [HPO term]
- Gait imbalance [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micropenis [HPO term]
- Ptosis [HPO term]
- Renal insufficiency [HPO term]
- Short clavicles [HPO term]
- Short femoral neck [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Tapered finger [HPO term]
- Tetralogy of Fallot [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
- Wormian bones [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sifrim-Hitz-Weiss Syndrome [NCIt concept]

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