Disease #05476

Official abbreviation SPONASTRIME
Name dysplasia, SPONASTRIME type
OMIM ID 271510
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 1 gene TONSL
Associated tissues -
Disease features autosomal recesive
Remarks -


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00183261 -Pat1 Burrage ASHG2018 P277, Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; ... TONSL TONSL 2 1 Johan den Dunnen
00225433 -Fam1Pat1/2 Journal: Chang 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL ARHGAP11A, RELN, TACC2, TONSL, ZBED4 10 2 Johan den Dunnen
00225434 -Pat2 Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225435 -Pat3-1 Journal: Burrage 2019 2-generation family, 2 affected brothers M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 2 Johan den Dunnen
00225436 -Pat3-2 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225437 -Pat4 Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225438 -Pat5 Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225443 -Pat9 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 1 1 Johan den Dunnen
00225444 -Pat10 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 1 1 Johan den Dunnen
00225445 -Pat11 Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; … TONSL - 0 1 Johan den Dunnen
00225446 -Pat12 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL - 0 1 Johan den Dunnen
00225447 -Pat13 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225448 -Pat14 Journal: Burrage 2019 - F - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225449 -Pat15 Journal: Burrage 2019 - M - - - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225450 -Pat2 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL FAM47A, TONSL 3 1 Johan den Dunnen
00225451 -Pat3 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL SYT14, TONSL 4 1 Johan den Dunnen
00225452 -Pat4 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Brazil African black;non-Latin European - 0 - - SPONASTRIME see paper; … TONSL CELSR3, CPS1, DCHS2, FKBP1A-SDCBP2, KCNAB2, LSR, PCDH15, RAB44, SCUBE2, SDCBP2, ST6GALNAC5, STXBP5, TCHHL1, TONSL 15 1 Johan den Dunnen
00225453 -Pat5 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL IGSF5, KMT2D, NELFE, PDE8A, SLC22A1, TONSL, TRIM7 11 1 Johan den Dunnen
00225454 -Pat6 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Finland - - 0 - - SPONASTRIME see paper; … TONSL FKRP, TONSL 3 1 Johan den Dunnen
00225455 -Pat7 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL GBGT1, MLLT4, NSDHL, TONSL 6 1 Johan den Dunnen
00225456 -Pat8 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225457 -Pat9 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - 0 - - SPONASTRIME see paper; … TONSL TONSL 3 1 Johan den Dunnen
00225458 -Pat10 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225459 -Pat11 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - 0 - - SPONASTRIME see paper; … TONSL TONSL 2 1 Johan den Dunnen
00225460 -Pat12 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - 0 - - SPONASTRIME see paper; … TONSL TONSL 1 1 Johan den Dunnen
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