Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6;

Symbol : MDDGB6;

CISMeF acronym : MDC1D; MDDGB6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, type 1d; Muscular dystrophy, congenital, large-related; MDC1D;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acetylglucosaminyltransferase-like protein (LARGE, 603590.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #608840;

Details

Origin ID

608840;

UMLS CUI

C1837229;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy type 1D large gene mutation [ICD-11 More detail]
- muscular dystrophy-dystroglycanopathy type B6 [DO Concept]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1D [ORDO Disease]
- muscular dystrophy, congenital, type 1D [MeSH concept]
- muscular dystrophy, congenital, type 1D [MeSH Supplementary Concept]
DO Cross reference
- muscular dystrophy-dystroglycanopathy type B6 [DO Concept]
Genes related to phenotype
- Acetylglucosaminyltransferase-like protein [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Abnormality of neuronal migration [HPO term]
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital muscular dystrophy [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial muscle weakness, mild [HPO term]
- Facial palsy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Horizontal nystagmus [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Joint contracture of the hand [HPO term]
- Lower limb hyperreflexia [HPO term]
- Macroglossia [HPO term]
- Motor delay [HPO term]
- Muscle weakness, predominantly proximal [HPO term]
- Muscular dystrophy [HPO term]
- Muscular dystrophy, congenital [HPO term]
- Pachygyria [HPO term]
- Proximal muscle weakness [HPO term]
- Short stature [HPO term]
- Skeletal muscle hypertrophy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy type 1D [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 type 1D [ORDO Disease]
- muscular dystrophy, congenital, type 1D [MeSH Supplementary Concept]
- muscular dystrophy, congenital, type 1D [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients