MAGE family member L2-related Prader-Willi-like syndrome

disorder

SNOMED 1229946007CUI C5575066

Overview

MAGE family member L2-related Prader-Willi-like 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.

Psychomotor development deficiency

Always present (100%)HP:0001263

Congenital hypotonia

Very frequent (80-99%)HP:0001319

Cryptorchidism

Very frequent (80-99%)HP:0000028

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hypotonia, early

Very frequent (80-99%)HP:0008947

Infertility

Very frequent (80-99%)HP:0000789

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Poor sucking

Very frequent (80-99%)HP:0002033

Abdominal obesity

Frequent (30-79%)HP:0012743

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Absence of pubertal development

Frequent (30-79%)HP:0008197

ASD

Frequent (30-79%)HP:0000729

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Camptodactyly

Frequent (30-79%)HP:0012385

Chronic constipation

Frequent (30-79%)HP:0012450

Clitoral hypoplasia

Frequent (30-79%)HP:0000060

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased body height

Frequent (30-79%)HP:0004322

Decreased fetal movement

Frequent (30-79%)HP:0001558

Decreased testicular size

Frequent (30-79%)HP:0008734

Delayed language development

Frequent (30-79%)HP:0000750

Dermatillomania

Frequent (30-79%)HP:0012166

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Diminished deep tendon reflexes

Frequent (30-79%)HP:0001315

Related Conditions

Prader-Willi-like syndrome(parent)

Quick Facts

SNOMED CT: 1229946007
UMLS CUI: C5575066
Fully Specified Name: MAGE family member L2-related Prader-Willi-like 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.