Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2;

Symbol : MDDGB2;

CISMeF acronym : MDDGB2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, pomt2-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannosyltransferase 2 gene (POMT2, 607439.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613156;

Détails

Origin ID

613156;

UMLS CUI

C3150416;

Currated CISMeF NLP mapping
- Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 [NCIt concept]
DO Cross reference
- muscular dystrophy-dystroglycanopathy [DO Concept]
Genes related to phenotype
- Protein o-mannosyltransferase 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital muscular dystrophy [HPO term]
- Cryptorchidism [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- Hip dislocation [HPO term]
- Hyperlordosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular systolic dysfunction [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Open mouth [HPO term]
- Pigmentary retinopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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