Congenital pontocerebellar hypoplasia type 7

disorder

SNOMED 718605009CUI C3554226

Overview

Congenital pontocerebellar hypoplasia type 7 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

Muscle weakness

Always present (100%)HP:0001324

Pontine hypoplasia

Always present (100%)HP:0012110

Microcephaly, progressive

Very frequent (80-99%)HP:0000253

Abnormal cerebral morphology

Frequent (30-79%)HP:0002060

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Ataxia

Frequent (30-79%)HP:0001251

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Choreoathetosis

Frequent (30-79%)HP:0001266

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Fatigable weakness of skeletal muscles

Frequent (30-79%)HP:0030197

Full upper lip

Frequent (30-79%)HP:0000215

High arched palate

Frequent (30-79%)HP:0000218

Hypertonia

Frequent (30-79%)HP:0001276

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Large ears

Frequent (30-79%)HP:0000400

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental-retardation

Frequent (30-79%)HP:0001249

Muscle fasciculation

Frequent (30-79%)HP:0002380

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

Olivopontocerebellar hypoplasia

Frequent (30-79%)HP:0006955

Palpebronasal fold

Frequent (30-79%)HP:0000286

Peripheral hypotonia

Frequent (30-79%)HP:0001252

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: 718605009
UMLS CUI: C3554226
Fully Specified Name: Congenital pontocerebellar hypoplasia type 7 (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.