Congenital pontocerebellar hypoplasia type 3

disorder

SNOMED 718609003CUI C1842687

Overview

Congenital pontocerebellar hypoplasia type 3 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.

Brainstem atrophy

Always present (100%)HP:0007366

Degeneration of cerebrum

Always present (100%)HP:0002059

Epilepsy

Always present (100%)HP:0001250

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Increased reflexes

Always present (100%)HP:0001347

Infratentorial atrophy

Always present (100%)HP:0001272

Mental and motor retardation

Always present (100%)HP:0001263

Pontine hypoplasia

Always present (100%)HP:0012110

Reduced cerebral white matter volume

Always present (100%)HP:0034295

Truncal hypotonia

Always present (100%)HP:0008936

Optic atrophy

Occasional (5-29%)HP:0000648

Optic disc pallor

Occasional (5-29%)HP:0000543

Concave bridge of nose

HP:0005280

Deafness

HP:0000365

Decreased body height

HP:0004322

Delay in head control

HP:0002421

Downturned corners of mouth

HP:0002714

High arched palate

HP:0000218

Hypoplasia of the brainstem

HP:0002365

Hypotonia, in neonatal onset

HP:0001319

Increased length of philtrum

HP:0000343

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Low-set ears

HP:0000369

Macrotia

HP:0000400

Microcephaly, progressive

HP:0000253

Narrow, high-arched roof of mouth

HP:0002705

Prominent eyes

HP:0000520

Puffy cheeks

HP:0000293

Small cerebellum

HP:0001321

Weight less than 3rd percentile

HP:0004325

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: 718609003
UMLS CUI: C1842687
Fully Specified Name: Congenital pontocerebellar hypoplasia type 3 (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.