Mucolipidosis type IV

disorder

SNOMED 725296006CUI C0238286

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

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 disorders

Very frequent (80-99%)HP:0000708

Corneal opacity

Very frequent (80-99%)HP:0007957

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

Low intelligence

Very frequent (80-99%)HP:0001249

No speech development

Very frequent (80-99%)HP:0001344

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Photophobia

Very frequent (80-99%)HP:0000613

Squint

Very frequent (80-99%)HP:0000486

Ataxia

Frequent (30-79%)HP:0001251

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Muscular hypotonia

Frequent (30-79%)HP:0001252

Abnormal ERG

Occasional (5-29%)HP:0000512

Abnormal nasal morphology

Occasional (5-29%)HP:0005105

Back knee

Occasional (5-29%)HP:0002816

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased width of the skull

Occasional (5-29%)HP:0004422

Keratoderma

Occasional (5-29%)HP:0000982

Protruding lower lip

Occasional (5-29%)HP:0000232

Retinal pigmentary anomaly

Occasional (5-29%)HP:0007703

Small teeth

Occasional (5-29%)HP:0000691

Thickened facial skin with coarse facial features

Occasional (5-29%)HP:0000280

Abnormality of the abdomen

HP:0001438

Achlorhydria

HP:0032448

Cloudy cornea

HP:0007759

Related Conditions

Mucolipidosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Inherited metabolic disorder of nervous system(parent)

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.