Macrocephaly and developmental delay syndrome

disorder

SNOMED 763773007CUI C4706573

Overview

Macrocephaly and developmental delay 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.

Anxiety disease

Frequent (30-79%)HP:0000739

Delayed ability to walk

Frequent (30-79%)HP:0031936

Frontal protuberance

Frequent (30-79%)HP:0002007

Large head

Frequent (30-79%)HP:0000256

Mental-retardation

Frequent (30-79%)HP:0001249

Poor speech discrimination

Frequent (30-79%)HP:0001963

Repetitive behaviour Stereotypic behaviour

Frequent (30-79%)HP:0000733

Speech difficulties

Frequent (30-79%)HP:0000750

ASD

Occasional (5-29%)HP:0000729

Autoagression

Occasional (5-29%)HP:0100716

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Craniosyostosis

Occasional (5-29%)HP:0001363

Curvature of little finger

Occasional (5-29%)HP:0004209

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

EEG: generalized slow activity

Occasional (5-29%)HP:0010845

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

High arched palate

Occasional (5-29%)HP:0000218

Mandibular excess

Occasional (5-29%)HP:0000303

Narrow eyelid opening

Occasional (5-29%)HP:0045025

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Pneumonia, recurrent

Occasional (5-29%)HP:0006532

Protruding forehead

Occasional (5-29%)HP:0011220

Retromicrognathia

Occasional (5-29%)HP:0000308

Scaphocephaly

Occasional (5-29%)HP:0030799

Seizures

Occasional (5-29%)HP:0001250

Swelling of eyelids

Occasional (5-29%)HP:0100540

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763773007
UMLS CUI: C4706573
Fully Specified Name: Macrocephaly and developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.