7q36.3 microduplication syndrome

disorder

SNOMED 1208720000CUI C5679998

Overview

7q36.3 microduplication 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.

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Increased size of skull

Very frequent (80-99%)HP:0000256

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Arnold Chiari type I malformation

Frequent (30-79%)HP:0007099

Flattening of head

Frequent (30-79%)HP:0001357

Increased distance between eyes

Frequent (30-79%)HP:0000316

Mental retardation, mild

Frequent (30-79%)HP:0001256

Generalised-onset seizure

Occasional (5-29%)HP:0002197

Mental retardation, borderline

Occasional (5-29%)HP:0006889

Unbalanced face

Occasional (5-29%)HP:0000324

Related Conditions

Congenital macrocephaly(parent)

Agenesis of corpus callosum(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1208720000
UMLS CUI: C5679998
Fully Specified Name: Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.