Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

disorder

SNOMED 722282008CUI C4302679

Overview

Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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

Capuchin ears

Very frequent (80-99%)HP:0000378

Decreased body height

Very frequent (80-99%)HP:0004322

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dysplastic ears

Very frequent (80-99%)HP:0000377

Hearing impairment

Very frequent (80-99%)HP:0000365

High forehead

Very frequent (80-99%)HP:0000348

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Large head

Very frequent (80-99%)HP:0000256

Low-set ears

Very frequent (80-99%)HP:0000369

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Pectus excavatum

Very frequent (80-99%)HP:0000767

Retrognathia

Very frequent (80-99%)HP:0000278

Scoliosis

Very frequent (80-99%)HP:0002650

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Short neck

Very frequent (80-99%)HP:0000470

Choanal atresia

Frequent (30-79%)HP:0000453

Cleft of palate

Frequent (30-79%)HP:0000175

High arched palate

Frequent (30-79%)HP:0000218

Iris coloboma

Frequent (30-79%)HP:0000612

Optic disc coloboma

Frequent (30-79%)HP:0000588

PDA

Frequent (30-79%)HP:0001643

Prominent nasal root

Frequent (30-79%)HP:0000426

VSD

Frequent (30-79%)HP:0001629

Related Conditions

Agenesis of corpus callosum(parent)

Congenital micrognathism(parent)

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

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Congenital coloboma of iris(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722282008
UMLS CUI: C4302679
Fully Specified Name: Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.