Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
- Synonyms
- MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Summary
Available tests
Clinical tests (75 available)
Clinical features
Help- Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Macroglossia
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Abnormal left ventricular function
Abnormal left ventricular function
- MedGen UID: 69237
- Concept ID: C0242698
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Abnormal left ventricular function
- Abnormality of the eye
- Developmental cataract
Developmental cataract
- MedGen UID: 3202
- Concept ID: C0009691
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Developmental cataract
- Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Enlarged cisterna magna
Enlarged cisterna magna
- MedGen UID: 344031
- Concept ID: C1853377
- Finding: Finding
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular dystrophy
Muscular dystrophy
- MedGen UID: 44527
- Concept ID: C0026850
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Cerebellar dysplasia
Cerebellar dysplasia
- MedGen UID: 479952
- Concept ID: C3278322
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Focal cortical dysplasia
Focal cortical dysplasia
- MedGen UID: 853938
- Concept ID: C2938983
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the brainstem
Hypoplasia of the brainstem
- MedGen UID: 334226
- Concept ID: C1842688
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Absent speech
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