IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability

disorder

SNOMED 774149004CUI C2931498

Overview

IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability 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.

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

Mental-retardation

Always present (100%)HP:0001249

No social interaction

Always present (100%)HP:0008763

Speech delay

Always present (100%)HP:0000750

Sudden loss of muscle tone

Always present (100%)HP:0010819

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Epilepsy

Frequent (30-79%)HP:0001250

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental retardation, severe

Frequent (30-79%)HP:0010864

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Psychomotor regression beginning in infancy

Frequent (30-79%)HP:0002376

Reduced friendship reciprocity

Frequent (30-79%)HP:0012760

Stereotypical hand wringing

Frequent (30-79%)HP:0012171

ASD

Occasional (5-29%)HP:0000729

Autoagression

Occasional (5-29%)HP:0100716

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Frequently cries for no reason

Occasional (5-29%)HP:0030215

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Hyperkinetic movements

Occasional (5-29%)HP:0002487

Large pinnae

Occasional (5-29%)HP:0000400

No speech development

Occasional (5-29%)HP:0001344

physical aggression

Occasional (5-29%)HP:0000718

Postnatal microcephaly

Occasional (5-29%)HP:0005484

Squint

Occasional (5-29%)HP:0000486

Difficulty speaking

HP:0002465

Generalised decreased muscle tone

HP:0001290

Hyperopia

HP:0000540

Wide skull shape

HP:0000248

Related Conditions

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

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Disorder of head(parent)

Chronic disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 774149004
UMLS CUI: C2931498
Fully Specified Name: Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.