Agenesis of corpus callosum and abnormal genitalia syndrome

disorder

SNOMED 763797003CUI C0796124

Overview

Agenesis of corpus callosum and abnormal genitalia 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

Always present (100%)HP:0001274

Decreased body height

Very frequent (80-99%)HP:0004322

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Seizures

Very frequent (80-99%)HP:0001250

Abnormal distribution of hair

Frequent (30-79%)HP:0010720

Abnormality of the hips

Frequent (30-79%)HP:0003272

Generalized hirsutism

Frequent (30-79%)HP:0002230

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Protruding ear

Frequent (30-79%)HP:0000411

Scoliosis

Frequent (30-79%)HP:0002650

Squint

Frequent (30-79%)HP:0000486

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Hypospadias

Occasional (5-29%)HP:0000047

Inguinal hernia

Occasional (5-29%)HP:0000023

Quadriplegia

Occasional (5-29%)HP:0002445

Renal adysplasia

Occasional (5-29%)HP:0000110

Renal hypoplasia/aplasia

Occasional (5-29%)HP:0008678

Congenital hypotonia

HP:0001319

Cryptorchidism

HP:0000028

Decreased size of cranium

HP:0000252

High arched palate

HP:0000218

Hirsutism

HP:0001007

Impaired vision

HP:0000505

Limb joint contracture

HP:0003121

Low anterior hairline

HP:0000294

Megalophthalmos

HP:0001090

Mental and motor retardation

HP:0001263

Related Conditions

Agenesis of corpus callosum(parent)

Multiple system malformation syndrome(parent)

Genitourinary congenital anomalies(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763797003
UMLS CUI: C0796124
Fully Specified Name: Agenesis of corpus callosum and abnormal genitalia syndrome (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.