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PADDAS syndrome

disorder
SNOMED 1260097007CUI C4693672

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.

5th finger middle phalangeal hypoplasia
Always present (100%)HP:0004220
Appendicular hypotonia
Always present (100%)HP:0012389
Clinodactyly
Always present (100%)HP:0030084
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Cryptorchidism
Always present (100%)HP:0000028
CVI
Always present (100%)HP:0100704
Decreased bone mineral density Z score
Always present (100%)HP:0004349
Delayed ability to walk
Always present (100%)HP:0031936
Dilated fourth ventricle
Always present (100%)HP:0002198
Disproportionately small hands
Always present (100%)HP:0200055
Fine hair
Always present (100%)HP:0002213
Generalised-onset seizure
Always present (100%)HP:0002197
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Hirsutism
Always present (100%)HP:0001007
Hyporeflexia
Always present (100%)HP:0001265
Increased distance between eyes
Always present (100%)HP:0000316
Joint ligamentous laxity
Always present (100%)HP:0001382
Muscular hypotonia
Always present (100%)HP:0001252
Pectus excavatum
Always present (100%)HP:0000767
Poor school performance
Always present (100%)HP:0001249
Prominent columella
Always present (100%)HP:0009765
Psychomotor development deficiency
Always present (100%)HP:0001263
Sparse eyebrow
Always present (100%)HP:0045075
Stereotypical hand wringing
Always present (100%)HP:0012171
Syndactyly of feet
Always present (100%)HP:0001770
Tapering fingers
Always present (100%)HP:0001182
Thin eyelashes
Always present (100%)HP:0000653
Thinning of the corpus callosum
Always present (100%)HP:0033725
Truncal hypotonia
Always present (100%)HP:0008936
High arched palate
Very frequent (80-99%)HP:0000218

Related Conditions

Autosomal dominant hereditary disorder(parent)
Spinocerebellar ataxia(parent)
Developmental delay(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1260097007
UMLS CUI
C4693672
Fully Specified Name
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure 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.