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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Type II lissencephaly, Hydrocephalus, Progressive muscle deterioration (muscular dystrophy), and Severe global developmental delay and others; and sometimes findings: Hypoplasia of the brainstem, Seizure, Agenesis of corpus callosum, and Cerebellar hypoplasia and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Poor speech, Hypoplasia of the brainstem, Seizure
Muscles	4	Flexion contracture, Progressive muscle deterioration (muscular dystrophy), Neonatal hypotonia
Eyes	3	Cataract, Retinal degeneration, Visual impairment
Head and neck	2	Progressive microcephaly, Microcephaly
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Bones and joints	1	Sideways curvature of the spine (scoliosis)
Digestive system	1	Feeding difficulties
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Pregnancy and birth	1	Neonatal hypotonia
Lungs and breathing	1	Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness)

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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team