Zimmermann-laband syndrome 2

Preferred Label : Zimmermann-laband syndrome 2;

Symbol : ZLS2;

CISMeF acronym : ZLS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ATPase, H transporting, lysosomal, 56/58-kd, V1 subunit B, isoform-2 gene (ATP6V1B2, 606939.0001);

Prefixed ID : #616455;

Détails

Origin ID

616455;

UMLS CUI

C4225321;

Genes related to phenotype
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Deep philtrum [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long eyelashes [HPO term]
- Macroglossia [HPO term]
- Prominent nasal septum [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Zimmermann-Laband syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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