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X-linked intellectual disability with plagiocephaly syndrome

disorder
SNOMED 719812008CUI C2931516

Overview

X-linked intellectual disability with plagiocephaly 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.

Bradycardia
Frequent (30-79%)HP:0001662
Bulging forehead
Frequent (30-79%)HP:0011220
Coarse face
Frequent (30-79%)HP:0000280
Decreased fetal movement
Frequent (30-79%)HP:0001558
Decreased size of cranium
Frequent (30-79%)HP:0000252
Developmental stagnation
Frequent (30-79%)HP:0007281
Diffuse cerebral atrophy
Frequent (30-79%)HP:0002506
Flattening of cranial vault
Frequent (30-79%)HP:0001357
Mental retardation, severe
Frequent (30-79%)HP:0010864
Moderate mental retardation
Frequent (30-79%)HP:0002342
Morning myoclonic jerks
Frequent (30-79%)HP:0007000
Posterior flattening of the skull
Frequent (30-79%)HP:0005469
Speech difficulties
Frequent (30-79%)HP:0000750
Wide skull shape
Frequent (30-79%)HP:0000248

Related Conditions

Plagiocephaly(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital abnormality of skull shape(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Congenital deformity of musculoskeletal system(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
719812008
UMLS CUI
C2931516
Fully Specified Name
X-linked intellectual disability with plagiocephaly syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
14
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.