Congenital pontocerebellar hypoplasia type 6

disorder

SNOMED 718606005CUI C1969084

Overview

Congenital pontocerebellar hypoplasia type 6 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.

Feeding difficulties

Always present (100%)HP:0011968

Generalised decreased muscle tone

Always present (100%)HP:0001290

Postnatal failure to thrive

Always present (100%)HP:0001508

Psychomotor retardation, profound

Always present (100%)HP:0012736

Apnea

Frequent (30-79%)HP:0002104

Appendicular spasticity

Frequent (30-79%)HP:0034353

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Brain wasting

Frequent (30-79%)HP:0012444

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Decreased activity of mitochondrial complex IV

Frequent (30-79%)HP:0008347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Elbow contracture

Frequent (30-79%)HP:0034391

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Increased CSF lactic acid

Frequent (30-79%)HP:0002490

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Poor sucking

Frequent (30-79%)HP:0002033

Respiratory complex I deficiency

Frequent (30-79%)HP:0011923

Respiratory complex III deficiency

Frequent (30-79%)HP:0011924

Small cerebellum

Frequent (30-79%)HP:0001321

Torpor

Frequent (30-79%)HP:0001254

Truncal hypotonia

Frequent (30-79%)HP:0008936

Brainstem atrophy

HP:0007366

Convex bridge of nose

HP:0000426

Delay in head control

HP:0002421

Enophthalmos

HP:0000490

Epilepsy

HP:0001250

Increased reflexes

HP:0001347

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: 718606005
UMLS CUI: C1969084
Fully Specified Name: Congenital pontocerebellar hypoplasia type 6 (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.