X-linked intellectual disability, short stature, overweight syndrome

disorder

SNOMED 1255335006CUI C5681122

Overview

X-linked intellectual disability, short stature, overweight 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.

Behavioral changes

Frequent (30-79%)HP:0000708

Central hypotonia

Frequent (30-79%)HP:0001252

Decreased body height

Frequent (30-79%)HP:0004322

High arched palate

Frequent (30-79%)HP:0000218

Mental retardation, mild

Frequent (30-79%)HP:0001256

Moderate mental retardation

Frequent (30-79%)HP:0002342

Overweight

Frequent (30-79%)HP:0025502

Speech difficulties

Frequent (30-79%)HP:0000750

Tremor

Frequent (30-79%)HP:0001337

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Cerebellar dysplasia

Occasional (5-29%)HP:0007033

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased testicular size

Occasional (5-29%)HP:0008734

Depressive episode

Occasional (5-29%)HP:0000716

Epilepsy

Occasional (5-29%)HP:0001250

Excess astrocytes in brain

Occasional (5-29%)HP:0002171

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Gait disturbance

Occasional (5-29%)HP:0001288

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

High forehead

Occasional (5-29%)HP:0000348

Hyperkinetic movements

Occasional (5-29%)HP:0002487

Hypertrophy of cranial bones

Occasional (5-29%)HP:0004437

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased width of the forehead

Occasional (5-29%)HP:0000337

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Macrotia

Occasional (5-29%)HP:0000400

Mental retardation, severe

Occasional (5-29%)HP:0010864

Myocardial infarction

Occasional (5-29%)HP:0001658

Related Conditions

X-linked recessive hereditary disease(parent)

Slow to talk(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1255335006
UMLS CUI: C5681122
Fully Specified Name: X-linked intellectual disability, short stature, overweight 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.