Infantile cerebellar and retinal degeneration

disorder

SNOMED 782822006CUI C3281192

Overview

Infantile cerebellar and retinal degeneration 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.

Ataxia

Always present (100%)HP:0001251

Athetoid movements

Always present (100%)HP:0002305

Breakdown of light-sensitive cells in back of eye

Always present (100%)HP:0000556

Mental retardation, severe

Always present (100%)HP:0010864

Severe psychomotor retardation

Always present (100%)HP:0011344

Decreased body weight

Very frequent (80-99%)HP:0004325

Optic atrophy

Very frequent (80-99%)HP:0000648

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cortical white matter abnormalities seen on MRI

Frequent (30-79%)HP:0002500

Decreased size of cranium

Frequent (30-79%)HP:0000252

Focal seizures

Frequent (30-79%)HP:0007359

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Squint

Frequent (30-79%)HP:0000486

Hyporeflexia

Occasional (5-29%)HP:0001265

Sensorineural deafness

Occasional (5-29%)HP:0000407

Demyelinating peripheral neuropathy

HP:0007108

Microcephaly, progressive

HP:0000253

Undergrowth

HP:0001508

Related Conditions

Degeneration of retina(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary cerebellar degeneration(parent)

Hereditary optic atrophy(parent)

Quick Facts

SNOMED CT: 782822006
UMLS CUI: C3281192
Fully Specified Name: Infantile cerebellar and retinal degeneration (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.