Galloway-mowat syndrome 2, X-linked

Preferred Label : Galloway-mowat syndrome 2, X-linked;

Symbol : GAMOS2;

CISMeF acronym : GAMOS2;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the L antigen family, member 3 gene (LAGE3, 300060.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #301006;

Details

Origin ID

301006;

UMLS CUI

C4538784;

Currated CISMeF NLP mapping
- Galloway-Mowat syndrome 2 [DO Concept]
DO Cross reference
- Galloway-Mowat syndrome 2 [DO Concept]
Genes related to phenotype
- L antigen family, member 3 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Esotropia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glomerular sclerosis [HPO term]
- High palate [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Minimal change glomerulonephritis [HPO term]
- Narrow forehead [HPO term]
- Nephrotic syndrome [HPO term]
- Nystagmus [HPO term]
- Polymicrogyria [HPO term]
- Proteinuria [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Galloway-Mowat syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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