Mosaic trisomy 14 syndrome

disorder

SNOMED 764466009CUI C2930917

Overview

Mosaic trisomy 14 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.

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Cognitive delay

Very frequent (80-99%)HP:0001263

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Frontal protuberance

Very frequent (80-99%)HP:0002007

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Large mouth

Very frequent (80-99%)HP:0000154

Poor school performance

Very frequent (80-99%)HP:0001249

Poor weight gain

Very frequent (80-99%)HP:0001508

Short neck

Very frequent (80-99%)HP:0000470

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Blepharophimosis

Frequent (30-79%)HP:0000581

Cleft of palate

Frequent (30-79%)HP:0000175

Cryptorchidism

Frequent (30-79%)HP:0000028

Ectopic anus

Frequent (30-79%)HP:0004397

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypospadias

Frequent (30-79%)HP:0000047

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low chest circumference

Frequent (30-79%)HP:0000774

Microtia

Frequent (30-79%)HP:0008551

Nostrils anteverted

Frequent (30-79%)HP:0000463

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Seizures

Frequent (30-79%)HP:0001250

Aplasia/Hypoplasia affecting the eye

Occasional (5-29%)HP:0008056

Eyelid ptosis

Occasional (5-29%)HP:0000508

Left and right leg differ in length or width

Occasional (5-29%)HP:0100559

Proximal interphalangeal finger joint contractures

Occasional (5-29%)HP:0100490

Rib anomalies

Occasional (5-29%)HP:0000772

Related Conditions

Anomaly of chromosome pair 14(parent)

Trisomy and partial trisomy of autosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 764466009
UMLS CUI: C2930917
Fully Specified Name: Mosaic trisomy 14 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.