Congenital pontocerebellar hypoplasia type 8

disorder

SNOMED 718611007CUI C3554209

Overview

Congenital pontocerebellar hypoplasia type 8 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.

Mental and motor retardation

Always present (100%)HP:0001263

Reduced cerebral white matter volume

Always present (100%)HP:0034295

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Small cerebellum

Very frequent (80-99%)HP:0001321

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Arthrogryposis multiplex

Frequent (30-79%)HP:0002804

CVI

Frequent (30-79%)HP:0100704

Delayed ability to walk

Frequent (30-79%)HP:0031936

Esotropia

Frequent (30-79%)HP:0000565

Increased reflexes

Frequent (30-79%)HP:0001347

Muscular hypotonia

Frequent (30-79%)HP:0001252

Reduced social responsiveness

Frequent (30-79%)HP:0012760

Brisk deep tendon reflexes

Occasional (5-29%)HP:0001348

Choreiform movements

Occasional (5-29%)HP:0002072

Convergent squint

Occasional (5-29%)HP:0020045

Dyschezia

Occasional (5-29%)HP:0002019

Feeding difficulties

Occasional (5-29%)HP:0011968

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Hyperopia

Occasional (5-29%)HP:0000540

Hypertonia

Occasional (5-29%)HP:0001276

Hypertrichosis

Occasional (5-29%)HP:0000998

Hypoplasia of the brainstem

Occasional (5-29%)HP:0002365

Inability to coordinate movements when walking

Occasional (5-29%)HP:0002066

Increased length of eyelashes

Occasional (5-29%)HP:0000527

Involuntary movements

Occasional (5-29%)HP:0004305

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Low-set ears

Occasional (5-29%)HP:0000369

Mental deterioration in childhood

Occasional (5-29%)HP:0002376

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: 718611007
UMLS CUI: C3554209
Fully Specified Name: Congenital pontocerebellar hypoplasia type 8 (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.