Intellectual disability, early-onset cataract, microcephaly syndrome

disorder

SNOMED 1351838008CUI C5543241

Overview

Intellectual disability, early-onset cataract, microcephaly 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.

Delayed ability to walk

Always present (100%)HP:0031936

Hypotonia, in neonatal onset

Always present (100%)HP:0001319

Lens opacities

Always present (100%)HP:0000518

Mental retardation, severe

Always present (100%)HP:0010864

Mongoloid slant

Always present (100%)HP:0000582

Narrow, high-arched roof of mouth

Always present (100%)HP:0002705

Tapering fingers

Always present (100%)HP:0001182

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed language development

Very frequent (80-99%)HP:0000750

Acanthosis nigricans

Frequent (30-79%)HP:0000956

Hirsutism

Frequent (30-79%)HP:0001007

Hunched back

Frequent (30-79%)HP:0002808

Inability to walk

Frequent (30-79%)HP:0002540

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

No speech development

Frequent (30-79%)HP:0001344

Obesity

Frequent (30-79%)HP:0001513

Striae atrophicae

Frequent (30-79%)HP:0001065

Urinary incontinence

Frequent (30-79%)HP:0000020

Dropped arches

Occasional (5-29%)HP:0001763

Dystonic movements

Occasional (5-29%)HP:0001332

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Focal seizures

Occasional (5-29%)HP:0007359

Generalised brain degeneration

Occasional (5-29%)HP:0002283

Migraine headache

Occasional (5-29%)HP:0002076

Related Conditions

Cataract(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1351838008
UMLS CUI: C5543241
Fully Specified Name: Intellectual disability, early-onset cataract, microcephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.