Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of mucopolysaccharide metabolism
Very frequent (80-99%)HP:0011020
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Behavioural/Psychiatric abnormality
Very frequent (80-99%)HP:0000708
Developmental stagnation
Very frequent (80-99%)HP:0007281
Gait disturbance
Very frequent (80-99%)HP:0001288
Ganglioside accumulation
Very frequent (80-99%)HP:0004345
Increased reflexes
Very frequent (80-99%)HP:0001347
Mental-retardation
Very frequent (80-99%)HP:0001249
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Nonverbal
Very frequent (80-99%)HP:0001344
Photophobia
Very frequent (80-99%)HP:0000613
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Squint
Very frequent (80-99%)HP:0000486
Ataxia
Frequent (30-79%)HP:0001251
Central hypotonia
Frequent (30-79%)HP:0001252
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Abnormal ERG
Occasional (5-29%)HP:0000512
Abnormal nasal morphology
Occasional (5-29%)HP:0005105
Back knee
Occasional (5-29%)HP:0002816
Biparietal narrowing
Occasional (5-29%)HP:0004422
Decreased size of cranium
Occasional (5-29%)HP:0000252
Eclabium of lower lip
Occasional (5-29%)HP:0000232
Keratoderma
Occasional (5-29%)HP:0000982
Retinal pigmentary anomaly
Occasional (5-29%)HP:0007703
Thickened facial skin with coarse facial features
Occasional (5-29%)HP:0000280
Tooth hypoplasia
Occasional (5-29%)HP:0000691
Abnormality of the abdomen
HP:0001438
Achlorhydria
HP:0032448
Corneal stromal opacity
HP:0007759
Quick Facts
- SNOMED CT
- 725296006
- UMLS CUI
- C0238286
- Fully Specified Name
- Mucolipidosis type IV (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.