Congenital pontocerebellar hypoplasia type 2

disorder

SNOMED 715463008CUI C2932714

Overview

Congenital pontocerebellar hypoplasia type 2 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.

Cerebellar vermis hypoplasia

Very frequent (80-99%)HP:0001320

Choreoathetosis

Very frequent (80-99%)HP:0001266

Feeding difficulties

Very frequent (80-99%)HP:0011968

Generalized myoclonic seizure

Very frequent (80-99%)HP:0002123

Hypoplasia of the ventral pons

Very frequent (80-99%)HP:0006850

Impaired oropharyngeal swallow response

Very frequent (80-99%)HP:0031162

Seizures

Very frequent (80-99%)HP:0001250

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Small cerebellum

Very frequent (80-99%)HP:0001321

Trouble sleeping

Very frequent (80-99%)HP:0002360

Apnea

Frequent (30-79%)HP:0002104

Decreased visual acuity

Frequent (30-79%)HP:0007663

Delayed motor milestones

Frequent (30-79%)HP:0001270

Episodic dystonia

Frequent (30-79%)HP:0002268

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Infantile spasms

Frequent (30-79%)HP:0012469

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Oral pharyngeal dysphagia

Frequent (30-79%)HP:0200136

Poor sucking

Frequent (30-79%)HP:0002033

Sloping forehead

Frequent (30-79%)HP:0000340

Susceptibility to infection

Frequent (30-79%)HP:0002719

Abnormal cortical gyration

Occasional (5-29%)HP:0002536

Bilateral single transverse palmar creases

Occasional (5-29%)HP:0007598

Bilateral tonic-clonic seizure with generalized onset

Occasional (5-29%)HP:0025190

Cortical blindness

Occasional (5-29%)HP:0100704

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Extensor plantar responses

Occasional (5-29%)HP:0003487

Gastrostomy tube feeding in infancy

Occasional (5-29%)HP:0011471

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: 715463008
UMLS CUI: C2932714
Fully Specified Name: Congenital pontocerebellar hypoplasia type 2 (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.