Oculocerebral hypopigmentation syndrome of Preus type

disorder

SNOMED 716174001CUI C2931646

Overview

Oculocerebral hypopigmentation syndrome of Preus type 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 immune system physiology

Very frequent (80-99%)HP:0010978

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Decreased body height

Very frequent (80-99%)HP:0004322

Epilepsy

Very frequent (80-99%)HP:0001250

Fair skin

Very frequent (80-99%)HP:0007513

Hearing impairment

Very frequent (80-99%)HP:0000365

High arched palate

Very frequent (80-99%)HP:0000218

Hypochromic anemia

Very frequent (80-99%)HP:0001931

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Iris hypopigmentation

Very frequent (80-99%)HP:0007730

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Poor school performance

Very frequent (80-99%)HP:0001249

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

White hair

Very frequent (80-99%)HP:0011364

Abnormal diencephalon morphology

Frequent (30-79%)HP:0010662

Abnormality of brainstem morphology

Frequent (30-79%)HP:0002363

Abnormality of neutrophils

Frequent (30-79%)HP:0001874

Albinism, Ocular

Frequent (30-79%)HP:0001107

Arachnodactyly

Frequent (30-79%)HP:0001166

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Abnormality of the hips

Occasional (5-29%)HP:0003272

Ataxia

Occasional (5-29%)HP:0001251

Cataract

Occasional (5-29%)HP:0000518

Decreased bone mineral density Z score

Occasional (5-29%)HP:0004349

Morphologic abnormality of the renal tubules

Occasional (5-29%)HP:0000091

Photophobia

Occasional (5-29%)HP:0000613

Related Conditions

Congenital deficiency of pigment of skin(parent)

Congenital anomaly of hair(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Genetic disorder of skin pigmentation(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716174001
UMLS CUI: C2931646
Fully Specified Name: Oculocerebral hypopigmentation syndrome of Preus type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.