Warburg micro syndrome

disorder

SNOMED 772224009CUI C5442005

Overview

Warburg micro 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.

Enlarged lateral sulcus

Always present (100%)HP:0100952

Frontoparietal polymicrogyria

Always present (100%)HP:0012650

Small cerebellum

Always present (100%)HP:0001321

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Cataract

Very frequent (80-99%)HP:0000518

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Cornea of eye less than 10mm in diameter

Very frequent (80-99%)HP:0000482

Cortical blindness

Very frequent (80-99%)HP:0100704

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed puberty

Very frequent (80-99%)HP:0000823

Fewer or absent grooves in brain

Very frequent (80-99%)HP:0001339

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic or absent corpus callosum

Very frequent (80-99%)HP:0007370

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Optic atrophy

Very frequent (80-99%)HP:0000648

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Stiff joint

Very frequent (80-99%)HP:0001387

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Clitoral hypoplasia

Frequent (30-79%)HP:0000060

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Generalized hirsutism

Frequent (30-79%)HP:0002230

Related Conditions

Congenital malformation of corpus callosum(parent)

Gonadal dysgenesis(parent)

RAB18, member RAS oncogene family deficiency(parent)

Congenital cataract(parent)

Quick Facts

SNOMED CT: 772224009
UMLS CUI: C5442005
Fully Specified Name: Warburg micro 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.