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YY1 haploinsufficiency syndrome

disorder
SNOMED 1186730002CUI C4479652

Overview

YY1 haploinsufficiency 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.

Delayed motor milestones
Always present (100%)HP:0001270
Dull intelligence
Always present (100%)HP:0001249
Bulbous nasal tip
Very frequent (80-99%)HP:0000414
Cognitive delay
Very frequent (80-99%)HP:0001263
Deformity of face
Very frequent (80-99%)HP:0001999
Feeding difficulties
Very frequent (80-99%)HP:0011968
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased height of lower lip vermilion
Very frequent (80-99%)HP:0000179
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Behavioural disorders
Frequent (30-79%)HP:0000708
Broad, upturned nose
Frequent (30-79%)HP:0000455
Deformity of the upper lip vermillion
Frequent (30-79%)HP:0011339
Delayed ability to walk
Frequent (30-79%)HP:0031936
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Fullness around the eyes
Frequent (30-79%)HP:0000629
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Mental retardation, mild
Frequent (30-79%)HP:0001256
Moderate mental retardation
Frequent (30-79%)HP:0002342
Muscular hypotonia
Frequent (30-79%)HP:0001252
Oral pharyngeal dysphagia
Frequent (30-79%)HP:0200136
PEG-fed in infancy
Frequent (30-79%)HP:0011471
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Simple ear
Frequent (30-79%)HP:0020206
Small pointed chin
Frequent (30-79%)HP:0000307
Speech delay
Frequent (30-79%)HP:0000750
Squint
Frequent (30-79%)HP:0000486
Unbalanced face
Frequent (30-79%)HP:0000324
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Absence of corpus callosum
Occasional (5-29%)HP:0001274

Related Conditions

Autosomal dominant hereditary disorder(parent)
Developmental hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1186730002
UMLS CUI
C4479652
Fully Specified Name
Gabriele-de Vries 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.