Congenital pontocerebellar hypoplasia type 1

disorder

SNOMED 718610008CUI C5442006

Overview

Congenital pontocerebellar hypoplasia type 1 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.

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord

Very frequent (80-99%)HP:0002398

Hyporeflexia

Very frequent (80-99%)HP:0001265

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Muscle weakness

Very frequent (80-99%)HP:0001324

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

No development of motor milestones

Very frequent (80-99%)HP:0001270

Respiratory failure

Very frequent (80-99%)HP:0002878

Feeding difficulties

Frequent (30-79%)HP:0011968

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Optic atrophy

Frequent (30-79%)HP:0000648

Pontine hypoplasia

Frequent (30-79%)HP:0012110

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Progressive visual loss

Frequent (30-79%)HP:0000529

Cerebellar cysts

Occasional (5-29%)HP:0002350

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Congenital laryngeal stridor

Occasional (5-29%)HP:0004886

Epilepsy

Occasional (5-29%)HP:0001250

Increased reflexes

Occasional (5-29%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Peripheral axonal neuropathy

Occasional (5-29%)HP:0003477

Squint

Occasional (5-29%)HP:0000486

Thinning of the corpus callosum

Occasional (5-29%)HP:0033725

Tongue fasciculations/fibrillations

Occasional (5-29%)HP:0001308

Arthrogryposis multiplex

Very rare (1-4%)HP:0002804

Ataxia

Very rare (1-4%)HP:0001251

Esotropia

Very rare (1-4%)HP:0000565

Related Conditions

Congenital pontocerebellar hypoplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718610008
UMLS CUI: C5442006
Fully Specified Name: Congenital pontocerebellar hypoplasia type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.