Deaf blind hypopigmentation syndrome Yemenite type

disorder

SNOMED 721084001CUI C1866425

Overview

Deaf blind hypopigmentation syndrome Yemenite 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.

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Freckling

Very frequent (80-99%)HP:0001480

Hypopigmentation of hair

Very frequent (80-99%)HP:0005599

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Increased width of tooth

Very frequent (80-99%)HP:0001572

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Multiple birthmarks

Very frequent (80-99%)HP:0007565

Patchy darkened skin

Very frequent (80-99%)HP:0000953

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Squint

Very frequent (80-99%)HP:0000486

Cornea of eye less than 10mm in diameter

Frequent (30-79%)HP:0000482

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Gait disturbance

Frequent (30-79%)HP:0001288

High forehead

Frequent (30-79%)HP:0000348

Iridocorneal adhesions

Frequent (30-79%)HP:0011483

Iris hypopigmentation

Frequent (30-79%)HP:0007730

Abnormal size of the eyes

Occasional (5-29%)HP:0200007

High-grade hypermetropia

Occasional (5-29%)HP:0008499

Large elongated pulp chamber

Occasional (5-29%)HP:0000679

Narrow, high-arched roof of mouth

Occasional (5-29%)HP:0002705

Spasticity and rigidity of muscles

Occasional (5-29%)HP:0001276

Chorioretinal coloboma

HP:0000567

Iris coloboma

HP:0000612

Numerous pigmented freckles

HP:0007587

Patchy hypo- and hyper-pigmentation

HP:0007509

Poliosis of anterior hair

HP:0002211

Severe sensorineural deafness

HP:0008625

Related Conditions

Congenital deficiency of pigment of skin(parent)

Congenital anomaly of eye(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Genetic disorder of skin pigmentation(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721084001
UMLS CUI: C1866425
Fully Specified Name: Deaf blind hypopigmentation syndrome Yemenite type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.