Congenital pontocerebellar hypoplasia type 10

disorder

SNOMED 782720005CUI C5190575

Overview

Congenital pontocerebellar hypoplasia type 10 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.

Appendicular hypertonia

Always present (100%)HP:0002509

Dilated cerebral ventricle

Always present (100%)HP:0002119

Dyschezia

Always present (100%)HP:0002019

Feeding difficulties

Always present (100%)HP:0011968

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Kyphoscoliosis

Always present (100%)HP:0002751

Mega cisterna magna

Always present (100%)HP:0002280

Prominent columella

Always present (100%)HP:0009765

Tapering fingers

Always present (100%)HP:0001182

Truncal hypotonia

Always present (100%)HP:0008936

White matter loss

Always present (100%)HP:0034295

Delayed fine motor development

Very frequent (80-99%)HP:0010862

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Delayed language development

Very frequent (80-99%)HP:0000750

Increased reflexes

Very frequent (80-99%)HP:0001347

Abnormality of the cerebral cortex

Frequent (30-79%)HP:0002538

Bulbous nasal tip

Frequent (30-79%)HP:0000414

CVI

Frequent (30-79%)HP:0100704

Delay in head control

Frequent (30-79%)HP:0002421

Epilepsy

Frequent (30-79%)HP:0001250

Fluid-filled cyst in spinal cord

Frequent (30-79%)HP:0003396

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hyperopia

Frequent (30-79%)HP:0000540

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Narrow forehead

Frequent (30-79%)HP:0000341

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Congenital pontocerebellar hypoplasia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 782720005
UMLS CUI: C5190575
Fully Specified Name: Congenital pontocerebellar hypoplasia type 10 (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.