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4p partial monosomy syndrome

disorder
SNOMED 17122004CUI C1956097

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal mouth
Very frequent (80-99%)HP:0000153
Abnormality of the philtrum
Very frequent (80-99%)HP:0000288
Ataxia
Very frequent (80-99%)HP:0001251
Central hypotonia
Very frequent (80-99%)HP:0001252
Decreased fetal movement
Very frequent (80-99%)HP:0001558
Decreased muscle mass
Very frequent (80-99%)HP:0003199
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Frontal protuberance
Very frequent (80-99%)HP:0002007
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
High frontal hairline
Very frequent (80-99%)HP:0009890
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Low birth weight
Very frequent (80-99%)HP:0001518
Low posterior hair line
Very frequent (80-99%)HP:0002162
Malformation of lip
Very frequent (80-99%)HP:0000159
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Microtia
Very frequent (80-99%)HP:0008551
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Narrow cranium shape
Very frequent (80-99%)HP:0000268
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Poor growth
Very frequent (80-99%)HP:0001510
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Seizures
Very frequent (80-99%)HP:0001250
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the chest
Frequent (30-79%)HP:0000765
Abnormality of the feet
Frequent (30-79%)HP:0001760

Related Conditions

Deletion of part of chromosome 4(parent)

Quick Facts

SNOMED CT
17122004
UMLS CUI
C1956097
Fully Specified Name
4p partial monosomy 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.