Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

disorder

SNOMED 722455002CUI C4302530

Overview

Intellectual disability, hypoplastic corpus callosum, preauricular tag 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.

Abnormality of immune system physiology

Very frequent (80-99%)HP:0010978

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Hypertonia

Very frequent (80-99%)HP:0001276

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Protruding ear

Very frequent (80-99%)HP:0000411

pulmonary infections, recurrent

Very frequent (80-99%)HP:0006532

Retarded growth

Very frequent (80-99%)HP:0001510

Retarded ossification

Very frequent (80-99%)HP:0002750

Skin tag on the posterior cheek

Very frequent (80-99%)HP:0000384

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Talipes

Frequent (30-79%)HP:0001883

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Decreased body height

Occasional (5-29%)HP:0004322

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

High forehead

Occasional (5-29%)HP:0000348

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Narrow mouth

Occasional (5-29%)HP:0000160

Optic atrophy

Occasional (5-29%)HP:0000648

Seizures

Occasional (5-29%)HP:0001250

Small nose

Occasional (5-29%)HP:0003196

Voice abnormality

Occasional (5-29%)HP:0001608

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Skin tag(parent)

Hypoplasia of corpus callosum(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of nervous system(parent)

Benign neoplasm of skin of face(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Fetal and/or neonatal disorder of integument(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722455002
UMLS CUI: C4302530
Fully Specified Name: Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (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.