Hyperphosphatasia with impaired intellectual development syndrome 4

Preferred Label : Hyperphosphatasia with impaired intellectual development syndrome 4;

Symbol : HPMRS4;

CISMeF acronym : GPIBD10; HPMRS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycosylphosphatidylinositol biosynthesis defect 10; GPIBD10; Hyperphosphatasia with mental retardation syndrome 4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the post-GPI attachment to proteins 3 gene (PGAP3, 611801.0001);

Laboratory abnormalities : Increased serum alkaline phosphatase;

Prefixed ID : #615716;

Details

Origin ID

615716;

UMLS CUI

C3810354;

Genes related to phenotype
- Post-gpi attachment to proteins 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Bruxism [HPO term]
- Cleft palate [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Involuntary movements [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Tented upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hyperphosphatasia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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