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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3(MDDGA3)

MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
Synonyms: MDDGA3; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
 
Gene (location): POMGNT1 (1p34.1)
 
OMIM®: 253280

Definition

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. [from NCI]

Term Hierarchy

Recent clinical studies

Etiology

Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV
BMC Pediatr 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2. PMID: 30961548Free PMC Article

Diagnosis

Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV
BMC Pediatr 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2. PMID: 30961548Free PMC Article

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