Congenital pontocerebellar hypoplasia type 4

disorder

SNOMED 718608006CUI C1856974

Overview

Congenital pontocerebellar hypoplasia type 4 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.

Deglutition disorder

Always present (100%)HP:0002015

Excess astrocytes in brain

Always present (100%)HP:0002171

Feeding difficulties

Always present (100%)HP:0011968

Loss of Purkinje cells in the cerebellar vermis

Always present (100%)HP:0007001

Pontine hypoplasia

Always present (100%)HP:0012110

Respiratory failure

Always present (100%)HP:0002878

Small cerebellum

Always present (100%)HP:0001321

Arthrogryposis multiplex

Frequent (30-79%)HP:0002804

Central apnoea

Frequent (30-79%)HP:0002871

Congenital joint contractures

Frequent (30-79%)HP:0002803

Distortion of face

Frequent (30-79%)HP:0001999

Head circumference small for gestational age

Frequent (30-79%)HP:0011451

Hydramnios

Frequent (30-79%)HP:0001561

Hypertonia

Frequent (30-79%)HP:0001276

Jerking

Frequent (30-79%)HP:0001336

Olivopontocerebellar hypoplasia

Frequent (30-79%)HP:0006955

Respiratory distress requiring endotracheal intubation

Frequent (30-79%)HP:0004887

Seizures

Frequent (30-79%)HP:0001250

Flat midface

Occasional (5-29%)HP:0011800

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Sloping forehead

Occasional (5-29%)HP:0000340

Decreased size of cranium

HP:0000252

Hypoplasia of the brainstem

HP:0002365

Infantile encephalopathy

HP:0007105

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Severe psychomotor retardation

HP:0011344

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: 718608006
UMLS CUI: C1856974
Fully Specified Name: Congenital pontocerebellar hypoplasia type 4 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.