Developmental and speech delay due to SRY-box 5 deficiency

disorder

SNOMED 771472009CUI C4749915

Overview

Developmental and speech delay due to SRY-box 5 deficiency 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.

Delayed motor milestones

Always present (100%)HP:0001270

Poor school performance

Always present (100%)HP:0001249

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Upper jaw bone excess

Very frequent (80-99%)HP:0430028

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Anxiety disease

Frequent (30-79%)HP:0000739

Deep central tongue furrow

Frequent (30-79%)HP:0002711

Dental crowding

Frequent (30-79%)HP:0000678

Frontal protuberance

Frequent (30-79%)HP:0002007

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Narrow palate

Frequent (30-79%)HP:0000189

Near sighted

Frequent (30-79%)HP:0000545

Optic atrophy

Frequent (30-79%)HP:0000648

Outward facing eye ball

Frequent (30-79%)HP:0000577

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

Pectus carinatum

Frequent (30-79%)HP:0000768

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Squint

Frequent (30-79%)HP:0000486

Thoracic kyphoscoliosis

Frequent (30-79%)HP:0005659

Vertebral fusion

Frequent (30-79%)HP:0002948

Aggression

Occasional (5-29%)HP:0000718

Autoagression

Occasional (5-29%)HP:0100716

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Epilepsy

Occasional (5-29%)HP:0001250

Feeding difficulties

Occasional (5-29%)HP:0011968

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Genital abnormalities

Occasional (5-29%)HP:0000078

Mitral regurgitation, mild

Occasional (5-29%)HP:0001653

Sagittal clefting of vertebrae

Occasional (5-29%)HP:0003316

Related Conditions

Slow to talk(parent)

SOX5 haploinsufficiency syndrome(parent)

Quick Facts

SNOMED CT: 771472009
UMLS CUI: C4749915
Fully Specified Name: Developmental and speech delay due to SRY-box 5 deficiency (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.