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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
Delayed language development
Frequent (30-79%)HP:0000750
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
Tremor
Frequent (30-79%)HP:0001337
Anxiety disease
Occasional (5-29%)HP:0000739
ASD
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
Depression
Occasional (5-29%)HP:0000716
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Excess astrocytes in brain
Occasional (5-29%)HP:0002171
Excessive growth of skull bones
Occasional (5-29%)HP:0004437
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
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
Large pinnae
Occasional (5-29%)HP:0000400
Mental retardation, severe
Occasional (5-29%)HP:0010864
Myocardial infarction
Occasional (5-29%)HP:0001658
Pulmonary fibrosis
Occasional (5-29%)HP:0002206

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.