Disease #02804 (SMDCRD (dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD)), OMIM:608940)

Official abbreviation SMDCRD
Name dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD)
OMIM ID 608940
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 PCYT1A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2019-12-10 14:05:02 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00095884 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 3-generation family, 1 affected, unaffected carrier parents F no - Europe, north - - - - SMDCRD pigmentary maculopathy (HP:0008002), 13y6m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/100 PCYT1A PCYT1A 1 1 Johan den Dunnen
00095885 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no - Europe, north - - - - SMDCRD pigmentary maculopathy (HP:0008002), 17m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/180 PCYT1A PCYT1A 2 1 Johan den Dunnen
00095886 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 2 affecteds (F, M), unaffected carrier parents/sib, Pat1 F no Greece - - - - - SMDCRD pigmentary maculopathy (HP:0008002), 51y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 8/80 PCYT1A PCYT1A 1 2 Johan den Dunnen
00095887 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 3 affecteds (2F, M), unaffected carrier parents/sib, Fam4Pat4 F no - Europe, north - - - - SMDCRD pigmentary maculopathy (HP:0008002), 36m cone-rod dystrophy (HP:0000548), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 5/250 PCYT1A PCYT1A 2 3 Johan den Dunnen
00095888 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat5 F no - Europe, north - - - - SMDCRD pigmentary maculopathy (HP:0008002), 27m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/250 PCYT1A PCYT1A 2 1 Johan den Dunnen
00095889 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat6 M no - Europe, north - - - - SMDCRD pigmentary maculopathy (HP:0008002), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 10/250 PCYT1A PCYT1A 2 1 Johan den Dunnen
00095890 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents/sib M no Japan - - - - - SMDCRD pigmentary maculopathy (HP:0008002), 11y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021) PCYT1A PCYT1A 2 1 Johan den Dunnen
00095891 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no Korea - - - - - SMDCRD pigmentary maculopathy (HP:0008002), cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021) PCYT1A PCYT1A 2 1 Johan den Dunnen
00095892 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 4-generation family, affected brother/sister, unaffected carrier parents, PatIV4 M yes Japan - - - - - SMDCRD see paper; …, onset infancy PCYT1A PCYT1A 1 2 Johan den Dunnen
00095893 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 PatIV5 F yes Japan - - - - - SMDCRD see paper; …, onset infancy PCYT1A PCYT1A 1 1 Johan den Dunnen
00095894 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 5-generation family, 2 affecteds, unaffected carrier parents/relatives, PatV2 F yes Japan - - - - - SMDCRD see paper; … PCYT1A PCYT1A 1 2 Johan den Dunnen
00095895 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 PatV5 F yes Japan - - - - - SMDCRD see paper; … PCYT1A PCYT1A 1 1 Johan den Dunnen
00104990 A10.1 PubMed: de Castro-Miró 2016 - M no Spain - - - - - SMDCRD - - C21orf2 2 1 Marta de Castro-Miró
00132071 1 - - M yes Brazil - >06y - - - SMDCRD - PCYT1A PCYT1A 1 1 Karina Silveira
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