Delleman-Oorthuys syndrome

disorder

SNOMED 403554008CUI C0796092

Overview

Delleman-Oorthuys 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 the cerebellar vermis

Very frequent (80-99%)HP:0002334

Aplasia/Hypoplasia of the skin

Very frequent (80-99%)HP:0008065

Dull intelligence

Very frequent (80-99%)HP:0001249

Epilepsy

Very frequent (80-99%)HP:0001250

Eyelid ptosis

Very frequent (80-99%)HP:0000508

More grooves in brain

Very frequent (80-99%)HP:0002126

Skin tag on the posterior cheek

Very frequent (80-99%)HP:0000384

Skin tags

Very frequent (80-99%)HP:0010609

Small cerebellum

Very frequent (80-99%)HP:0001321

Calvarial defect

Frequent (30-79%)HP:0001362

Cryptorchidism

Frequent (30-79%)HP:0000028

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Eyelid coloboma

Frequent (30-79%)HP:0000625

Hair loss

Frequent (30-79%)HP:0001596

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Rib anomalies

Frequent (30-79%)HP:0000772

Abnormality of the fingernails

Occasional (5-29%)HP:0001231

Absent/hypoplastic terminal phalanges of toes

Occasional (5-29%)HP:0010185

Congenital hip dislocations

Occasional (5-29%)HP:0001374

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Diaphragmatic hernia

Occasional (5-29%)HP:0000776

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Distal phalangeal hypoplasia

Occasional (5-29%)HP:0009882

Dysplastic ears

Occasional (5-29%)HP:0000377

Formation of new noncancerous bone on top of existing bone

Occasional (5-29%)HP:0100777

Hearing impairment

Occasional (5-29%)HP:0000365

Increased distance between eyes

Occasional (5-29%)HP:0000316

Related Conditions

Aplasia cutis congenita secondary to malformation syndrome (Type 9)(parent)

Quick Facts

SNOMED CT: 403554008
UMLS CUI: C0796092
Fully Specified Name: Oculocerebrocutaneous 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.