EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome

disorder

SNOMED 1177175008CUI C5567899

Overview

EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia 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.

Mental and motor retardation

Very frequent (80-99%)HP:0001263

No development of motor milestones

Very frequent (80-99%)HP:0001270

Severe platyspondyly

Very frequent (80-99%)HP:0004565

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Abnormal limb bone morphology

Frequent (30-79%)HP:0002813

Abnormality of the chest

Frequent (30-79%)HP:0000765

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Acetabular dysplasia

Frequent (30-79%)HP:0008807

Aplasia/hypoplasia involving bones of the extremities

Frequent (30-79%)HP:0045060

Brachydactyly

Frequent (30-79%)HP:0001156

Cervical vertebral anomalies

Frequent (30-79%)HP:0003319

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Decreased mitogen-induced T-cell proliferation

Frequent (30-79%)HP:0031381

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed ability to sit

Frequent (30-79%)HP:0025336

Distortion of face

Frequent (30-79%)HP:0001999

Frontal protuberance

Frequent (30-79%)HP:0002007

Hunched back

Frequent (30-79%)HP:0002808

Hypereosinophilia

Frequent (30-79%)HP:0032061

Hyporeflexia

Frequent (30-79%)HP:0001265

Iliac abnormalities

Frequent (30-79%)HP:0002867

Low intelligence

Frequent (30-79%)HP:0001249

Narrow sciatic notches

Frequent (30-79%)HP:0003375

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Phalangeal hypoplasia

Frequent (30-79%)HP:0009803

Reduced number of T cells

Frequent (30-79%)HP:0005403

Short stature, severe disproportionate

Frequent (30-79%)HP:0003498

Shortened long bones of hand

Frequent (30-79%)HP:0010049

Small nose

Frequent (30-79%)HP:0003196

Small odontoid peg

Frequent (30-79%)HP:0003311

Related Conditions

Developmental delay(parent)

Spondylodysplastic group(parent)

Multiple system malformation syndrome(parent)

Immuno-osseous dysplasia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1177175008
UMLS CUI: C5567899
Fully Specified Name: Skeletal dysplasia, T-cell immunodeficiency, developmental delay 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.