QRICH1-related intellectual disability, chondrodysplasia syndrome

disorder

SNOMED 1220568003CUI C4693824

Overview

QRICH1-related intellectual disability, chondrodysplasia 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.

Curvature of little finger

Always present (100%)HP:0004209

Irregular metaphyses

Always present (100%)HP:0003025

Large ears

Always present (100%)HP:0000400

Nasal hypertrophy

Always present (100%)HP:0000448

Nonprogressive mental retardation

Always present (100%)HP:0001249

Scoliosis

Always present (100%)HP:0002650

Speech delay

Always present (100%)HP:0000750

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Large mouth

Very frequent (80-99%)HP:0000154

No development of motor milestones

Very frequent (80-99%)HP:0001270

2 vessel cord

Frequent (30-79%)HP:0001195

ASD

Frequent (30-79%)HP:0000729

Broad, upturned nose

Frequent (30-79%)HP:0000455

Bulbous nose

Frequent (30-79%)HP:0000414

Central hypotonia

Frequent (30-79%)HP:0001252

Cerebellar tremor

Frequent (30-79%)HP:0002080

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed skeletal development

Frequent (30-79%)HP:0002750

Eyelid ptosis

Frequent (30-79%)HP:0000508

Feeding difficulties

Frequent (30-79%)HP:0011968

Flat philtrum

Frequent (30-79%)HP:0000319

High arched palate

Frequent (30-79%)HP:0000218

Hyporeflexia

Frequent (30-79%)HP:0001265

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased nasal width

Frequent (30-79%)HP:0000445

Low-set ears

Frequent (30-79%)HP:0000369

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Mongoloid slant

Frequent (30-79%)HP:0000582

Protruding lower lip

Frequent (30-79%)HP:0000232

Related Conditions

Autosomal dominant hereditary disorder(parent)

Chondrodysplasia(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1220568003
UMLS CUI: C4693824
Fully Specified Name: Glutamine rich 1-related intellectual disability, chondrodysplasia 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.