Alkaline ceramidase 3 deficiency
- Synonyms
- LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Thick eyebrow
Thick eyebrow
- MedGen UID: 377914
- Concept ID: C1853487
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
- Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Optic disc pallor
- Abnormality of the genitourinary system
- Neurogenic bladder
Neurogenic bladder
- MedGen UID: 595
- Concept ID: C0005697
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Neurogenic bladder
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture
Joint contracture
- MedGen UID: 3228
- Concept ID: C0009918
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Relative macrocephaly
Relative macrocephaly
- MedGen UID: 338607
- Concept ID: C1849075
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Appendicular spasticity
Appendicular spasticity
- MedGen UID: 937224
- Concept ID: C4313257
- Finding: Finding
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental stagnation
Developmental stagnation
- MedGen UID: 341348
- Concept ID: C1848980
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
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
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Appendicular spasticity
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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