Warburg micro syndrome 2

Preferred Label : Warburg micro syndrome 2;

Symbol : WARBM2;

CISMeF acronym : WARBM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Micro syndrome 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAB3 GTPase-activating protein (noncatalytic) subunit 2 gene (RAB3GAP2, 609275.0002);

Prefixed ID : #614225;

Details

Origin ID

614225;

UMLS CUI

C3280214;

Currated CISMeF NLP mapping
- Warburg micro syndrome 2 [DO Concept]
DO Cross reference
- Warburg micro syndrome 2 [DO Concept]
Genes related to phenotype
- Rab3 gtpase-activating protein, noncatalytic subunit [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Asymmetry of the ears [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Cryptorchidism [HPO term]
- Developmental cataract [HPO term]
- Flexion contracture [HPO term]
- Global brain atrophy [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic labia majora [HPO term]
- Intellectual disability, severe [HPO term]
- Low anterior hairline [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Optic atrophy [HPO term]
- Overlapping toe [HPO term]
- Polymicrogyria [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nasal bridge [HPO term]
- Secondary microcephaly [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Small scrotum [HPO term]
- Spastic diplegia [HPO term]
- Undetectable visual evoked potentials [HPO term]
ORDO concept(s)
- Micro syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Warburg micro syndrome 2 [DO Concept]
Validated automatic mappings to NTBT
- Micro syndrome [ORDO Disease]

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