X-linked intellectual disability with cerebellar hypoplasia syndrome

disorder

SNOMED 719136005CUI C4304937

Overview

X-linked intellectual disability with cerebellar hypoplasia 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.

Poor school performance

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Small cerebellum

Very frequent (80-99%)HP:0001321

Abnormal vocalization

Frequent (30-79%)HP:0002167

ASD

Frequent (30-79%)HP:0000729

Ataxia

Frequent (30-79%)HP:0001251

Deep set eye

Frequent (30-79%)HP:0000490

Deformity of face

Frequent (30-79%)HP:0001999

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Localized dyscognitive seizure

Frequent (30-79%)HP:0002384

Long lower third of face

Frequent (30-79%)HP:0400000

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Partial absence of cerebellar vermis

Frequent (30-79%)HP:0002951

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor eye contact

Frequent (30-79%)HP:0000817

Problems speaking

Frequent (30-79%)HP:0002465

Reduced friendship reciprocity

Frequent (30-79%)HP:0012760

Squint

Frequent (30-79%)HP:0000486

Abnormal retropulsion test

Occasional (5-29%)HP:0002172

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Caudate degeneration

Occasional (5-29%)HP:0002340

Cerebellar tremor

Occasional (5-29%)HP:0002080

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Frontal cortex degeneration

Occasional (5-29%)HP:0006913

Hypo/aplastic vermis

Occasional (5-29%)HP:0006817

Large cisterna magna

Occasional (5-29%)HP:0002280

Large nose

Occasional (5-29%)HP:0000448

Related Conditions

Congenital cerebellar hypoplasia(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked dominant hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719136005
UMLS CUI: C4304937
Fully Specified Name: X-linked intellectual disability with cerebellar hypoplasia 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.