Alazami-yuan syndrome

Preferred Label : Alazami-yuan syndrome;

Symbol : ALYUS;

CISMeF acronym : ALYUS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80-kD gene (TAF6, 602955.0001);

Prefixed ID : #617126;

Details

Origin ID

617126;

UMLS CUI

C4310702;

Genes related to phenotype
- Taf6 rna polymerase II, tata box-binding protein-associated factor, 80-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad hallux [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Neonatal hypotonia [HPO term]
- Poor speech [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Short stature [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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