Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

disorder

SNOMED 773581009CUI C3554343

Overview

Intellectual disability, craniofacial dysmorphism, cryptorchidism 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.

Distortion of face

Very frequent (80-99%)HP:0001999

Dull intelligence

Very frequent (80-99%)HP:0001249

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Bilateral ptosis

Frequent (30-79%)HP:0001488

Cryptorchidism

Frequent (30-79%)HP:0000028

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dyschezia

Frequent (30-79%)HP:0002019

Epilepsy

Frequent (30-79%)HP:0001250

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Low-set ears

Frequent (30-79%)HP:0000369

Oral aversion

Frequent (30-79%)HP:0012523

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Potato nose

Frequent (30-79%)HP:0000414

Protruding ear

Frequent (30-79%)HP:0000411

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

2 vessel cord

Occasional (5-29%)HP:0001195

ASD

Occasional (5-29%)HP:0000729

Atria septal defect

Occasional (5-29%)HP:0001631

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Bicuspid aortic valve

Occasional (5-29%)HP:0001647

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Broad thumbs

Occasional (5-29%)HP:0011304

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased serum complement C3 level

Occasional (5-29%)HP:0005421

Decreased size of cranium

Occasional (5-29%)HP:0000252

Related Conditions

Autosomal dominant hereditary disorder(parent)

Developmental delay(parent)

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

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773581009
UMLS CUI: C3554343
Fully Specified Name: Intellectual disability, craniofacial dysmorphism, cryptorchidism 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.