Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome

disorder

SNOMED 770901001CUI C4749580

Overview

Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture 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.

Limb joint contracture

Very frequent (80-99%)HP:0003121

Mental retardation, severe

Very frequent (80-99%)HP:0010864

No speech development

Very frequent (80-99%)HP:0001344

Psychomotor regression beginning in infancy

Very frequent (80-99%)HP:0002376

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Febrile seizure (within the age range of 3 months to 6 years)

Frequent (30-79%)HP:0002373

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Inability to straighten knee

Frequent (30-79%)HP:0006380

Large mouth

Frequent (30-79%)HP:0000154

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Abnormal lumbar spine morphology

Occasional (5-29%)HP:0100712

Ankle clonus

Occasional (5-29%)HP:0011448

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Deglutition disorder

Occasional (5-29%)HP:0002015

Dysplastic ears

Occasional (5-29%)HP:0000377

High arched palate

Occasional (5-29%)HP:0000218

Thick eyebrow

Occasional (5-29%)HP:0000574

tremors in hands

Occasional (5-29%)HP:0002378

Unibrow

Occasional (5-29%)HP:0000664

Upper limb hyperreflexia

Occasional (5-29%)HP:0007350

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Chronic arthropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Contracture of multiple joints(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770901001
UMLS CUI: C4749580
Fully Specified Name: Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.