Hao-fountain syndrome

Preferred Label : Hao-fountain syndrome;

Symbol : HAFOUS;

CISMeF acronym : HAFOUS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies;

Included titles and symbols : Chromosome 16p13.2 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ubiquitin-specific protease 7 gene (USP7, 602519.0001);

Prefixed ID : #616863;

Details

Origin ID

616863;

UMLS CUI

C5393908;

Automatic exact mappings (from CISMeF team)
- 16p13.2 microdeletion syndrome [ORDO Disease]
Genes related to phenotype
- Ubiquitin-specific protease 7 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Apraxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central sleep apnea [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed speech and language development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hallux valgus [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Perseveration [HPO term]
- Premature adrenarche [HPO term]
- Seizure [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- 16p13.2 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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