Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome

disorder

SNOMED 1220597000CUI C4015242

Overview

Retinitis pigmentosa, juvenile cataract, short stature, 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.

Attenuation of retinal blood vessels

Always present (100%)HP:0007843

Breakdown of light-sensitive cells in back of eye

Always present (100%)HP:0000556

Difficulties with night vision

Always present (100%)HP:0000662

Fundus with peripheral bony spicules

Always present (100%)HP:0007737

Lens opacities

Always present (100%)HP:0000518

Retinal pigment epithelial atrophy

Always present (100%)HP:0007722

Wide-spaced teeth

Always present (100%)HP:0000687

Decreased body height

Very frequent (80-99%)HP:0004322

Funny looking face

Very frequent (80-99%)HP:0001999

Juvenile cataract

Very frequent (80-99%)HP:0001118

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Progressive night blindness

Very frequent (80-99%)HP:0007675

Progressive visual loss

Very frequent (80-99%)HP:0000529

Retinitis pigmentosa

Very frequent (80-99%)HP:0000510

Small nasal alae

Very frequent (80-99%)HP:0000430

Angle class 2 malocclusion

Frequent (30-79%)HP:0000689

Attached earlobe

Frequent (30-79%)HP:0009907

Brachydactyly

Frequent (30-79%)HP:0001156

Constriction of peripheral visual field

Frequent (30-79%)HP:0001133

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Gaps between teeth

Frequent (30-79%)HP:0000699

Hyperplasia of columella

Frequent (30-79%)HP:0010761

Incoordination

Frequent (30-79%)HP:0002311

Low-set ears

Frequent (30-79%)HP:0000369

Mongoloid slant

Frequent (30-79%)HP:0000582

Patchy atrophy of the retinal pigment epithelium

Frequent (30-79%)HP:0007791

Short neck

Frequent (30-79%)HP:0000470

Specific learning disability

Frequent (30-79%)HP:0001328

Related Conditions

Autosomal recessive retinitis pigmentosa(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Juvenile cataract(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1220597000
UMLS CUI: C4015242
Fully Specified Name: Retinitis pigmentosa, juvenile cataract, short stature, 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.