Disease #04631 (NLS2 (Neu-Laxova syndrome, tyep 2 (NLS-2)), OMIM:616038)

Official abbreviation NLS2
Name Neu-Laxova syndrome, tyep 2 (NLS-2)
OMIM ID 616038
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene PSAT1
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00295967 - - - F yes Iran - 00y00m27d01h - - - NLS2 HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0007651, HP:0000518, HP:0000252, HP:0001371, HP:0008064 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00295968 - - - F - Germany - - - - - NLS2 HP:0001511, HP:0000340, HP:0000369, HP:0000175, HP:0000252, HP:0000252, HP:0001274, HP:0000238, HP:0001371, HP:0100259, HP:0003241 PSAT1 PSAT1 2 1 Fatima Abdelfattah
00295969 - - - F yes Germany - - - - - NLS2 HP:0001511,HP:0000340, HP:0000470, HP:0000377, HP:000369, HP:0012472, HP:0000347, HP:000252, HP:0001302, HP:0007364, HP:00012714, HP:0000238, HP:001371, HP:0001838, HP:0009601, HP:0030084 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00295970 - - - M no United States - 00y00m05d00h - - - NLS2 HP:0001511, HP:0000470,HP:0000377,HP:000369, HP:0000347, HP:0000518, HP:0000492, HP:000252, HP:0001339, HP:0001321, HP:00012714, HP:0002514, HP:0001371, HP:0001838, HP:0001762, HP:0008064, HP:0000951, HP:0002089, HP:0003241 PSAT1 PSAT1 2 1 Fatima Abdelfattah
00295971 - - - M yes - - - - - - NLS2 HP:0001511, HP:0001558, HP:0000340, HP:0000470, HP:0000377, HP:0000369,HP:0012472, HP:0000153, HP:0000218, HP:0000347, HP:0000316, HP:0000518, HP:0000482, HP:000252, HP:0002536, HP:0012639, HP:0001274, HP:0001371, HP:0001838, HP:0012210, HP:0000924, HP:0001627, HP:0008064 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00295972 - - - F no Ireland - 00y00m01d00h - - - NLS2 HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000153, HP:0012472, HP:0000175, HP:0000347, HP:0000520, HP:0007651, HP:0000252, HP:0001339, HP:0001321, HP:0000238, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0008064, HP:0000951, HP:0200128, HP:0002089, HP:0000062 PSAT1 PSAT1 2 1 Fatima Abdelfattah
00295973 Pat15a 2-generation family, 2 affected brothers - M no Tuvalu - 00y00m00d01h - - - NLS2 HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000347, HP:0000252, HP:0001321, HP:0001305, HP:0001371, HP:0001838, HP:0000951, HP:0001195, HP:0012583, HP:0003241, HP:0000062 PSAT1 PSAT1 1 2 Fatima Abdelfattah
00300228 - - - F yes Iran - 00y00m05d00h - - - NLS2 HP:0001511, HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0007651, HP:0000518, HP:0000252, HP:0001371, HP:0008064 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00300231 - - The pregerancy was terminated, he was the brother of individual #0295968 and he had the same variants in PSAT1 as his sister. M no Germany white - - - - NLS2 HP:0000767 PSAT1 PSAT1 2 1 Fatima Abdelfattah
00300232 - - - M yes Belgium Arab 00y00m01d00h - - - NLS2 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0000316, HP:0000520, HP:0007651, HP:0000252, HP:0001339, HP:00012714, HP:0002119, HP:0001331, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0010305, HP:0008064, HP:0001629, HP:0012210, HP:0003241, HP:0000054, HP:0000969 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00300236 - - - F no Ireland - 00y00m07d01h - - - NLS2 HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0007651, HP:0000252, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0008064,HP:0000951, HP:0002089 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00300250 - - brother of #00295973, pregnancy terminated owing the same validated variants as in his brother and he has the same phenotype on antenatal ultrasound M ? New Zealand Tuvalu <00y00m00d - - - NLS2 HP:0001511, HP:0000340, HP:0000470, HP:0000347, HP:0000252, HP:0001371, HP:0001838,HP:0000175, HP:0001317, HP:0100679 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00300251 - - individual was IUFD (stillbirth at 35w) F - Spain white <00y00m00d - - - NLS2 HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0000316, HP:0003196, HP:0000463, HP:0000494, HP:0000282, HP:0000520, HP:0007651, HP:0000252, HP:0001371, HP:0001225, HP:0010741, HP:0000951, HP:0000062 PSAT1 PSAT1 1 1 Fatima Abdelfattah
00380806 ? PubMed: Nair 2018 - ? - Lebanon - - - - - NLS2 Microcephaly; coarse face; early death (Multiple systems) - PSAT1 1 1 LOVD
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