Macrocephaly, intellectual disability, left ventricular non compaction syndrome

disorder

SNOMED 1187642008CUI C5569083

Overview

Macrocephaly, intellectual disability, left ventricular non compaction 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.

Relatively large head

Very frequent (80-99%)HP:0004482

Convex bridge of nose

Frequent (30-79%)HP:0000426

Delay in head control

Frequent (30-79%)HP:0002421

Delayed gross motor development

Frequent (30-79%)HP:0002194

Dropped arches

Frequent (30-79%)HP:0001763

Dysplasia of corpus callosum

Frequent (30-79%)HP:0006989

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hypernasal voice

Frequent (30-79%)HP:0001611

Hyperplasia of nose

Frequent (30-79%)HP:0000448

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Left ventricular abnormality

Frequent (30-79%)HP:0001711

Malformation of face

Frequent (30-79%)HP:0001999

Mental retardation, mild

Frequent (30-79%)HP:0001256

Mongoloid slant

Frequent (30-79%)HP:0000582

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Nasal bridge, thin

Frequent (30-79%)HP:0000446

Near sighted

Frequent (30-79%)HP:0000545

Poor sucking

Frequent (30-79%)HP:0002033

Shyness

Frequent (30-79%)HP:0100962

Slack jawed appearance

Frequent (30-79%)HP:0000194

Speech and language difficulties

Frequent (30-79%)HP:0000750

Squint

Frequent (30-79%)HP:0000486

Symphalangism affecting the 1st metacarpal

Frequent (30-79%)HP:0009703

Thin build

Frequent (30-79%)HP:0001533

Tooth size discrepancy

Frequent (30-79%)HP:0000678

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Zygomatic flattening

Frequent (30-79%)HP:0000272

Abnormal cardiac ventricular function

Occasional (5-29%)HP:0030872

Related Conditions

X-linked recessive hereditary disease(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Left ventricular myocardial noncompaction cardiomyopathy(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital anomaly of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Abnormality of skeleton morphology(parent)

Quick Facts

SNOMED CT: 1187642008
UMLS CUI: C5569083
Fully Specified Name: Macrocephaly, intellectual disability, left ventricular non compaction 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.