PMP22-RAI1 contiguous gene duplication syndrome

disorder

SNOMED 1172899000CUI C4225255

Overview

PMP22-RAI1 contiguous gene duplication 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.

Absent tendon reflexes

Very frequent (80-99%)HP:0001284

Cognitive delay

Very frequent (80-99%)HP:0001263

Delayed ability to walk

Very frequent (80-99%)HP:0031936

Delayed language development

Very frequent (80-99%)HP:0000750

Distortion of face

Very frequent (80-99%)HP:0001999

Feeding difficulties

Very frequent (80-99%)HP:0011968

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Hypotonia, early

Very frequent (80-99%)HP:0008947

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Behavioral changes

Frequent (30-79%)HP:0000708

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Cardiac anomaly

Frequent (30-79%)HP:0001627

Chronic constipation

Frequent (30-79%)HP:0012450

Decreased or absent ankle reflexes

Frequent (30-79%)HP:0200101

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Distal limb muscle weakness due to peripheral neuropathy

Frequent (30-79%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Foot deformity

Frequent (30-79%)HP:0001760

High arched palate

Frequent (30-79%)HP:0000218

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Inability to heel walk

Frequent (30-79%)HP:0009027

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Kidney malformation

Frequent (30-79%)HP:0012210

Loss of distal sensation

Frequent (30-79%)HP:0002936

Sleep apnea

Frequent (30-79%)HP:0010535

Trouble sleeping

Frequent (30-79%)HP:0002360

Undergrowth

Frequent (30-79%)HP:0001508

Aortic aneurysm

Occasional (5-29%)HP:0004942

Aortic root dilatation

Occasional (5-29%)HP:0002616

Related Conditions

Autosomal dominant hereditary disorder(parent)

Global developmental delay(parent)

Congenital malformation(parent)

Developmental hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

17q partial trisomy syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172899000
UMLS CUI: C4225255
Fully Specified Name: Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication 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.