Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome

disorder

SNOMED 773583007CUI C4751006

Overview

Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability 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.

5th finger camptodactyly

Frequent (30-79%)HP:0009183

Aphonia

Frequent (30-79%)HP:0001686

Bilateral ptosis

Frequent (30-79%)HP:0001488

Breakdown of light-sensitive cells in back of eye

Frequent (30-79%)HP:0000556

Broad thumbs

Frequent (30-79%)HP:0011304

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Duplication of outermost bone of toe

Frequent (30-79%)HP:0010193

Feeding difficulties

Frequent (30-79%)HP:0011968

Flexion deformities of thumbs

Frequent (30-79%)HP:0009600

Hyperplasia of cheeks

Frequent (30-79%)HP:0000293

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Invaginated nipples

Frequent (30-79%)HP:0003186

Joint contractures of the 2nd finger

Frequent (30-79%)HP:0009537

Laryngeal stenosis

Frequent (30-79%)HP:0001602

Lateral deviation of halluces

Frequent (30-79%)HP:0001822

Mental retardation, severe

Frequent (30-79%)HP:0010864

Narrow mouth

Frequent (30-79%)HP:0000160

Optic atrophy

Frequent (30-79%)HP:0000648

Partial/complete duplication of the phalanges of the hallux

Frequent (30-79%)HP:0010066

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent lips

Frequent (30-79%)HP:0012471

Sensorineural deafness

Frequent (30-79%)HP:0000407

Short nails

Frequent (30-79%)HP:0001799

Squint

Frequent (30-79%)HP:0000486

Tapering fingers

Frequent (30-79%)HP:0001182

Thick eyebrow

Frequent (30-79%)HP:0000574

Tooth hypotrophy

Frequent (30-79%)HP:0000691

Underdeveloped vaginal lips

Frequent (30-79%)HP:0000059

Unilateral vocal cord paralysis

Frequent (30-79%)HP:0008757

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital hearing disorder(parent)

Aphonia(parent)

Hereditary retinal dystrophy(parent)

Perodactylia of great toe(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 773583007
UMLS CUI: C4751006
Fully Specified Name: Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability 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.