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DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

disorder
SNOMED 783619003CUI C5191008

Overview

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 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.

Brain imaging abnormality
Very frequent (80-99%)HP:0410263
Dysmorphic facies
Very frequent (80-99%)HP:0001999
Feeding difficulties
Very frequent (80-99%)HP:0011968
Gait disturbance
Very frequent (80-99%)HP:0001288
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormalities of the toes
Frequent (30-79%)HP:0001780
Abnormality of the feet
Frequent (30-79%)HP:0001760
Ataxia
Frequent (30-79%)HP:0001251
CNS hypomyelination
Frequent (30-79%)HP:0003429
Constipation
Frequent (30-79%)HP:0002019
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Genitourinary dysplasia
Frequent (30-79%)HP:0000119
Hypoplasia of the brainstem
Frequent (30-79%)HP:0002365
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Low birth weight
Frequent (30-79%)HP:0001518
Neurohypophysis hypoplasia
Frequent (30-79%)HP:0011757
No speech development
Frequent (30-79%)HP:0001344
Problems speaking
Frequent (30-79%)HP:0002465
Prominent nasal root
Frequent (30-79%)HP:0000426
Seizures
Frequent (30-79%)HP:0001250
Tapering fingers
Frequent (30-79%)HP:0001182
Webbed second, third and fourth toes
Frequent (30-79%)HP:0005768
Wide based walk
Frequent (30-79%)HP:0002136
Abnormality of optic chiasm morphology
Occasional (5-29%)HP:0025163
Aggression
Occasional (5-29%)HP:0000718

Related Conditions

Deletion of part of chromosome 21(parent)
DYRK1A-related intellectual disability syndrome(parent)

Quick Facts

SNOMED CT
783619003
UMLS CUI
C5191008
Fully Specified Name
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (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.