Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- Synonyms
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED
Summary
Available tests
Clinical tests (34 available)
Clinical features
Help- Abnormality of the eye
- Retinal dysplasia
Retinal dysplasia
- MedGen UID: 48433
- Concept ID: C0035313
- Finding: Congenital Abnormality
Abnormality of the eye
- Retinal dysplasia
- Abnormality of the genitourinary system
- Gonadal dysgenesis
Gonadal dysgenesis
- MedGen UID: 9075
- Concept ID: C0018051
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Gonadal dysgenesis
- Abnormality of the nervous system
- Cerebellar dysplasia
Cerebellar dysplasia
- MedGen UID: 479952
- Concept ID: C3278322
- Finding: Finding
Abnormality of the nervous system
- Cobblestone lissencephaly
Cobblestone lissencephaly
- MedGen UID: 96562
- Concept ID: C0431376
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Neural tube defect
Neural tube defect
- MedGen UID: 18009
- Concept ID: C0027794
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar dysplasia
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