Pontocerebellar hypoplasia, type 12
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (18 available)
Clinical features
Help- Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Congenital vertical talus
Congenital vertical talus
- MedGen UID: 66821
- Concept ID: C0240912
- Finding: Congenital Abnormality
Abnormality of limbs
- Overlapping fingers
Overlapping fingers
- MedGen UID: 252954
- Concept ID: C1446712
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the musculoskeletal system
- Joint contracture
Joint contracture
- MedGen UID: 3228
- Concept ID: C0009918
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Primary microcephaly
Primary microcephaly
- MedGen UID: 383046
- Concept ID: C2677180
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral hypoplasia
Cerebral hypoplasia
- MedGen UID: 343321
- Concept ID: C1855330
- Finding: Finding
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
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Cerebellar hypoplasia
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