ANK3-related intellectual disability, sleep disturbance syndrome

disorder

SNOMED 787175002CUI C5192596

Overview

ANK3-related intellectual disability, sleep disturbance syndrome 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.

Aggression

Frequent (30-79%)HP:0000718

ASD

Frequent (30-79%)HP:0000729

Bruxism

Frequent (30-79%)HP:0003763

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Moderate mental retardation

Frequent (30-79%)HP:0002342

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Speech and language difficulties

Frequent (30-79%)HP:0000750

Trouble sleeping

Frequent (30-79%)HP:0002360

Fetal macrosomia

Occasional (5-29%)HP:0001520

Large head

Occasional (5-29%)HP:0000256

Mental retardation, mild

Occasional (5-29%)HP:0001256

Seizures

Occasional (5-29%)HP:0001250

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Dyssomnia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 787175002
UMLS CUI: C5192596
Fully Specified Name: Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.