Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

disorder

SNOMED 724001005CUI C4518330

Overview

Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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.

Acanthosis nigricans

Very frequent (80-99%)HP:0000956

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased testicular size

Very frequent (80-99%)HP:0008734

Gynaecomastia

Very frequent (80-99%)HP:0000771

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

NIDDM

Very frequent (80-99%)HP:0005978

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Brachydactyly

Frequent (30-79%)HP:0001156

Broad foot

Frequent (30-79%)HP:0001769

Cataract

Frequent (30-79%)HP:0000518

Cryptorchidism

Frequent (30-79%)HP:0000028

Impaired vision

Frequent (30-79%)HP:0000505

Keloids

Frequent (30-79%)HP:0010562

Obesity

Frequent (30-79%)HP:0001513

Previous menstrual periods stop

Frequent (30-79%)HP:0000869

Retarded ossification

Frequent (30-79%)HP:0002750

Short toes

Frequent (30-79%)HP:0001831

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Xerosis

Frequent (30-79%)HP:0000958

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Hunched back

Occasional (5-29%)HP:0002808

Polycystic ovary disease

Occasional (5-29%)HP:0000147

Prominent swayback

Occasional (5-29%)HP:0003307

Related Conditions

Hypogonadism(parent)

Autosomal recessive retinitis pigmentosa(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 724001005
UMLS CUI: C4518330
Fully Specified Name: Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (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.