Disease #02819

Official abbreviation SPDRS
Name syndrome, salt and pepper developmental regression (SPDRS)
OMIM ID 609056
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ST3GAL5
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00132653 - - - M - Pakistan - - 0 - - SPDRS Epilepsy geneneralized Seizures CACNA1C-AS1, CACNA1C-AS4, CACNA1C-IT3, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CFTR CFTR 1 1 Sumaira Kanwal
00168063 24026681-FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - 0 - - SPDRS see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation ST3GAL5 ST3GAL5 1 3 Johan den Dunnen
00168066 26649472-Pats PubMed: Wang 2016 28 individuals (12 males and 16 females), unaffected heterozygous carrier parents/relatives F;M yes United States - - 0 - - SPDRS infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening ST3GAL5 ST3GAL5 1 28 Johan den Dunnen
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