Prader-Willi-like syndrome due to microdeletion 6q16

disorder

SNOMED 1003380001CUI C5438727

Overview

Prader-Willi-like syndrome due to microdeletion 6q16 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.

Delayed language development

Very frequent (80-99%)HP:0000750

Malformation of face

Very frequent (80-99%)HP:0001999

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Obesity

Very frequent (80-99%)HP:0001513

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Almond shaped eyes

Frequent (30-79%)HP:0007874

Congenital hypotonia

Frequent (30-79%)HP:0001319

Increased appetite

Frequent (30-79%)HP:0002591

Increased size of skull

Frequent (30-79%)HP:0000256

Mongoloid slant

Frequent (30-79%)HP:0000582

Narrow forehead

Frequent (30-79%)HP:0000341

Poor sucking

Frequent (30-79%)HP:0002033

Puffy cheeks

Frequent (30-79%)HP:0000293

Specific learning disability

Frequent (30-79%)HP:0001328

Squint

Frequent (30-79%)HP:0000486

Abnormal ear morphology

Occasional (5-29%)HP:0031703

Abnormality of the chest

Occasional (5-29%)HP:0000765

ASD

Occasional (5-29%)HP:0000729

Bulbous nose

Occasional (5-29%)HP:0000414

Concave bridge of nose

Occasional (5-29%)HP:0005280

Eye disease

Occasional (5-29%)HP:0000478

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Incoordination

Occasional (5-29%)HP:0002311

Increased width of the forehead

Occasional (5-29%)HP:0000337

Long foot

Occasional (5-29%)HP:0001833

Low-set ears

Occasional (5-29%)HP:0000369

Microtia

Occasional (5-29%)HP:0008551

Nostrils anteverted

Occasional (5-29%)HP:0000463

Retrognathia

Occasional (5-29%)HP:0000278

Tapering fingers

Occasional (5-29%)HP:0001182

Related Conditions

Deletion of part of long arm of chromosome 6(parent)

Prader-Willi-like syndrome(parent)

Quick Facts

SNOMED CT: 1003380001
UMLS CUI: C5438727
Fully Specified Name: 6q16 microdeletion 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.