X-linked intellectual disability with cubitus valgus and dysmorphism syndrome

disorder

SNOMED 719138006CUI C4304935

Overview

X-linked intellectual disability with cubitus valgus and dysmorphism 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.

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Deep set eye

Very frequent (80-99%)HP:0000490

Deformity of face

Very frequent (80-99%)HP:0001999

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Noncancerous mole

Very frequent (80-99%)HP:0000995

Outward turned elbows

Very frequent (80-99%)HP:0002967

Decreased size of cranium

Frequent (30-79%)HP:0000252

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Seizures

Frequent (30-79%)HP:0001250

Truncal obesity

Frequent (30-79%)HP:0001956

Bilateral single transverse palmar creases

Occasional (5-29%)HP:0007598

Decreased body height

Occasional (5-29%)HP:0004322

High arched palate

Occasional (5-29%)HP:0000218

Pectus excavatum

Occasional (5-29%)HP:0000767

Tapering fingers

Occasional (5-29%)HP:0001182

Related Conditions

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

Congenital cubitus valgus(parent)

Congenital anomaly of joint(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Arthropathy of elbow(parent)

Congenital deformity of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719138006
UMLS CUI: C4304935
Fully Specified Name: X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.