Gaze palsy, familial horizontal, with progressive scoliosis 1
Summary
Available tests
Clinical tests (14 available)
Clinical features
Help- Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy
- MedGen UID: 870350
- Concept ID: C4024794
- Finding: Disease or Syndrome
Abnormality of the eye
- Hyperopic astigmatism
Hyperopic astigmatism
- MedGen UID: 376146
- Concept ID: C1847524
- Finding: Disease or Syndrome
Abnormality of the eye
- Impaired ocular abduction
Impaired ocular abduction
- MedGen UID: 375894
- Concept ID: C1846462
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive ophthalmoplegia
Progressive ophthalmoplegia
- MedGen UID: 384479
- Concept ID: C2062713
- Finding: Disease or Syndrome
Abnormality of the eye
- Esotropia
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 78562
- Concept ID: C0265529
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Thoracolumbar scoliosis
Thoracolumbar scoliosis
- MedGen UID: 196671
- Concept ID: C0749379
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Delayed ability to sit
Delayed ability to sit
- MedGen UID: 1368737
- Concept ID: C4476710
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the pons
Hypoplasia of the pons
- MedGen UID: 341246
- Concept ID: C1848529
- Finding: Finding
Abnormality of the nervous system
- Torticollis
Torticollis
- MedGen UID: 11859
- Concept ID: C0040485
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar hypoplasia
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