Liberfarb syndrome
- Synonyms
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LIBERFARB TYPE; Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the eye
- Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina
- MedGen UID: 323029
- Concept ID: C1836926
- Finding: Finding
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
- MedGen UID: 347513
- Concept ID: C1857644
- Finding: Finding
Abnormality of the eye
- Bone spicule pigmentation of the retina
- Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
Delayed epiphyseal ossification
- MedGen UID: 351324
- Concept ID: C1865200
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal striations
Metaphyseal striations
- MedGen UID: 376512
- Concept ID: C1849081
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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