Overview
Neuroectodermal melanolysosomal disease is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of movement
Very frequent (80-99%)HP:0100022
Epilepsy
Very frequent (80-99%)HP:0001250
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypopigmentation of the skin
Very frequent (80-99%)HP:0001010
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental deficiency
Very frequent (80-99%)HP:0001249
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Specific learning disability
Very frequent (80-99%)HP:0001328
Near sighted
Frequent (30-79%)HP:0000545
Tremor
Frequent (30-79%)HP:0001337
Abnormality of the cerebellar vermis
Occasional (5-29%)HP:0002334
Aplasia/Hypoplasia of the macula
Occasional (5-29%)HP:0008059
Ataxia
Occasional (5-29%)HP:0001251
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Cerebral cortical hemiatrophy
Occasional (5-29%)HP:0100308
Generalised hyperpigmentation
Occasional (5-29%)HP:0007440
Hypertonia
Occasional (5-29%)HP:0001276
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Macular dystrophy
Occasional (5-29%)HP:0007754
Muscle rigidity
Occasional (5-29%)HP:0002063
Muscle stiffness
Occasional (5-29%)HP:0003552
Optic atrophy
Occasional (5-29%)HP:0000648
optic nerve abnormalities
Occasional (5-29%)HP:0000587
respiratory infections, recurrent
Occasional (5-29%)HP:0002205
Small cerebellum
Occasional (5-29%)HP:0001321
Squint
Occasional (5-29%)HP:0000486
Subcortical cerebral atrophy
Occasional (5-29%)HP:0012157
Accumulation of melanosomes in melanocytes
HP:0001008
Related Conditions
Hyperpigmentation of skin(parent)
Neuroectodermal dysplasia(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital pigmentary skin anomalies(parent)
Hereditary disorder of nervous system(parent)
Genetic disorder of skin pigmentation(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of nervous system(parent)
Hereditary disorder of the integument(parent)
Quick Facts
- SNOMED CT
- 724091002
- UMLS CUI
- C1860157
- Fully Specified Name
- Neuroectodermal melanolysosomal disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.