Disease #00274 (SCKL5 (Seckel syndrome, type 5 (SCKL-5)), OMIM:613823)

Official abbreviation SCKL5
Name Seckel syndrome, type 5 (SCKL-5)
OMIM ID 613823
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 8
Phenotype entries for this disease -
Associated with 1 gene CEP152
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-22 15:19:05 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00206485 - PubMed: Kalay 2011 - M - South Africa - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206486 - PubMed: Kalay 2011 - M - Turkey - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206487 - PubMed: Kalay 2011 - F - Turkey - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206488 - PubMed: Kalay 2011 - M - Turkey - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206489 - PubMed: Kalay 2011 - F - Turkey - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206490 - PubMed: Kalay 2011 - M - Turkey - - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206491 - PubMed: Kalay 2011 - M - France Turkish - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
00206492 - PubMed: Kalay 2011 - F - Germany Italian - - - - SCKL5 - CEP152 CEP152 2 1 LOVD
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