Proximal 16p11.2 microduplication syndrome

disorder

SNOMED 765142003CUI C4707332

Overview

Proximal 16p11.2 microduplication 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.

Abnormal basal ganglia MRI signal intensity

Very frequent (80-99%)HP:0012751

Arachnodactyly

Very frequent (80-99%)HP:0001166

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased BMI

Very frequent (80-99%)HP:0045082

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Deep set eye

Very frequent (80-99%)HP:0000490

Flat facial shape

Very frequent (80-99%)HP:0012368

Flat philtrum

Very frequent (80-99%)HP:0000319

Hyporeflexia

Very frequent (80-99%)HP:0001265

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Microtia

Very frequent (80-99%)HP:0008551

No development of motor milestones

Very frequent (80-99%)HP:0001270

Poor school performance

Very frequent (80-99%)HP:0001249

Poor weight gain

Very frequent (80-99%)HP:0001508

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Speech articulation difficulties

Very frequent (80-99%)HP:0009088

Thin eyelashes

Very frequent (80-99%)HP:0000653

Tremor

Very frequent (80-99%)HP:0001337

Abnormal visual accommodation

Frequent (30-79%)HP:0030800

ASD

Frequent (30-79%)HP:0000729

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

OCD

Frequent (30-79%)HP:0000722

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Abnormality of the hairline

Occasional (5-29%)HP:0009553

Autism

Occasional (5-29%)HP:0000717

Bipolar disorder

Occasional (5-29%)HP:0007302

Related Conditions

Duplication of part of short arm of chromosome 16(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 765142003
UMLS CUI: C4707332
Fully Specified Name: Proximal 16p11.2 microduplication 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.