HCC - hypomyelination and congenital cataract

disorder

SNOMED 702379005CUI C1864663

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.

CNS hypomyelination

Always present (100%)HP:0003429

Difficulty articulating speech

Always present (100%)HP:0001260

Extensor plantar responses

Always present (100%)HP:0003487

Increased reflexes

Always present (100%)HP:0001347

Mental-retardation

Always present (100%)HP:0001249

Onion bulb formation

Always present (100%)HP:0003383

Truncal hypotonia

Always present (100%)HP:0008936

Cataract, congenital

Very frequent (80-99%)HP:0000519

Cerebellar signs

Very frequent (80-99%)HP:0001317

Cerebral hypomyelination

Very frequent (80-99%)HP:0006808

Corticospinal signs

Very frequent (80-99%)HP:0007256

Decreased motor nerve conduction velocity

Very frequent (80-99%)HP:0003431

Lower limb amyotrophy

Very frequent (80-99%)HP:0007210

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Peripheral nerve disease

Very frequent (80-99%)HP:0001271

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Terminal tremor

Very frequent (80-99%)HP:0002080

Truncal titubation

Very frequent (80-99%)HP:0030147

Delayed ability to walk

Frequent (30-79%)HP:0031936

Delayed brainstem auditory evoked response conduction time

Frequent (30-79%)HP:0004466

Delayed somatosensory central conduction time

Frequent (30-79%)HP:0100291

Epilepsy

Frequent (30-79%)HP:0001250

Loss of ambulation

Frequent (30-79%)HP:0002505

Scoliosis

Frequent (30-79%)HP:0002650

Cerebral white matter atrophy

HP:0012762

Delayed motor milestones

HP:0001270

Leukodystrophy

HP:0002415

Related Conditions

Hereditary disorder of nervous system(parent)

Leukoencephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 702379005
UMLS CUI: C1864663
Fully Specified Name: Hypomyelination and congenital cataract (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.