Deficiency of 3-hydroxyisobutyryl CoA hydrolase

disorder

SNOMED 124427009CUI C0342738

Overview

Deficiency of 3-hydroxyisobutyryl CoA hydrolase 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.

Abnormal finger chase test

Always present (100%)HP:0001310

Absence of corpus callosum

Always present (100%)HP:0001274

Ataxia

Always present (100%)HP:0001251

Loss of acquired milestones

Always present (100%)HP:0002376

Torpor

Always present (100%)HP:0001254

Muscular hypotonia

Very frequent (80-99%)HP:0001252

No development of motor milestones

Very frequent (80-99%)HP:0001270

Vomiting

Very frequent (80-99%)HP:0002013

Worsening neurological symptoms

Very frequent (80-99%)HP:0002344

Abnormality of mitochondrial metabolism

Frequent (30-79%)HP:0003287

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Facial shape compression

Frequent (30-79%)HP:0011334

Feeding difficulties

Frequent (30-79%)HP:0011968

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Increased reflexes

Frequent (30-79%)HP:0001347

Infantile spasms

Frequent (30-79%)HP:0012469

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Metabolic acidosis

Frequent (30-79%)HP:0001942

Palpebronasal fold

Frequent (30-79%)HP:0000286

Trouble sleeping

Frequent (30-79%)HP:0002360

Undergrowth

Frequent (30-79%)HP:0001508

Cryptorchidism

Occasional (5-29%)HP:0000028

Encephalopathy

Occasional (5-29%)HP:0001298

Irritability

Occasional (5-29%)HP:0000737

Leukoencephalopathy

Occasional (5-29%)HP:0002352

Respiratory function loss

Occasional (5-29%)HP:0002093

Small basal ganglia

Occasional (5-29%)HP:0012697

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124427009
UMLS CUI: C0342738
Fully Specified Name: Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (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.