X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome

disorder

SNOMED 765471005CUI C0796264

Overview

X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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.

Aplasia/Hypoplasia of the testes

Very frequent (80-99%)HP:0010468

Behavioral changes

Very frequent (80-99%)HP:0000708

Cognitive delay

Very frequent (80-99%)HP:0001263

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Epilepsy

Very frequent (80-99%)HP:0001250

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Low intelligence

Very frequent (80-99%)HP:0001249

Obesity

Very frequent (80-99%)HP:0001513

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Squint

Very frequent (80-99%)HP:0000486

Voice abnormality

Very frequent (80-99%)HP:0001608

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Cutaneous photosensitivity

Occasional (5-29%)HP:0000992

Eczema

Occasional (5-29%)HP:0000964

Hernia of the abdominal wall

Occasional (5-29%)HP:0004299

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Related Conditions

Multiple system malformation syndrome(parent)

Congenital ichthyosis of skin(parent)

Small stature(parent)

Primary hypogonadism(parent)

Reproductive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 765471005
UMLS CUI: C0796264
Fully Specified Name: X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.