Monosomy 14q22q23

disorder

SNOMED 771439009CUI C1864825

Overview

Monosomy 14q22q23 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 the hypothalamus-pituitary axis

Very frequent (80-99%)HP:0000864

Absence of eyeballs

Very frequent (80-99%)HP:0000528

Absent auditory canals

Very frequent (80-99%)HP:0000413

Absent optic nerve

Very frequent (80-99%)HP:0012521

Anterior bulging of the globe of eye

Very frequent (80-99%)HP:0000520

Capuchin ears

Very frequent (80-99%)HP:0000378

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

High forehead

Very frequent (80-99%)HP:0000348

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Skin tag on the posterior cheek

Very frequent (80-99%)HP:0000384

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Anterior pituitary hypoplasia

Frequent (30-79%)HP:0010627

Diabetes insipidus

Frequent (30-79%)HP:0000873

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Short and broad skull

Frequent (30-79%)HP:0000248

Small nasal alae

Frequent (30-79%)HP:0000430

Zygomatic flattening

Frequent (30-79%)HP:0000272

Adrenal hypoplasia

Occasional (5-29%)HP:0000835

Bilateral single transverse palmar creases

Occasional (5-29%)HP:0007598

Curvature of little finger

Occasional (5-29%)HP:0004209

Deafness

Occasional (5-29%)HP:0000365

Decreased fetal movement

Occasional (5-29%)HP:0001558

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Congenital anomaly of visual system(parent)

Congenital anomaly of limb(parent)

Partial deletion of chromosome 14q(parent)

Quick Facts

SNOMED CT: 771439009
UMLS CUI: C1864825
Fully Specified Name: 14q22q23 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.