Disease #05446 (ML (mucolipidosis (ML)))

Official abbreviation ML
Name mucolipidosis (ML)
OMIM ID -
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 2 genes GNPTAB, GNPTG
Associated tissues -
Disease features -
Remarks -
Date created 2018-06-27 14:44:08 +02:00 (CEST)
Date last edited N/A


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00165131 15060128-Pat8I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - ? no Netherlands - - - - - ML see paper; ..., no family history, GNPTG GNPTG 2 1 Renata Voltolini Velho
00165185 15060128-Pat1 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? yes Israel Druze - - - - ML see paper; ..., family history, GNPTG GNPTG 1 1 Johan den Dunnen
00165186 15060128-Pat2I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - ML see paper; ..., no family history, GNPTG GNPTG 1 2 Johan den Dunnen
00165187 15060128-Pat3 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia Jewish - - - - ML see paper; ..., family history, GNPTG GNPTG 1 1 Johan den Dunnen
00165188 15060128-Pat4I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - ML see paper; ..., family history, GNPTG GNPTG 1 2 Johan den Dunnen
00165189 15060128-Pat5I/II/III/IV PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 4 affecteds, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - ML see paper; ..., family history, GNPTG GNPTG 1 4 Johan den Dunnen
00165190 15060128-Pat6I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives F yes Iran Jewish - - - - ML see paper; ..., family history, GNPTG GNPTG 1 2 Johan den Dunnen
00165191 15060128-Pat7I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? no Finland - - - - - ML see paper; ..., family history, GNPTG GNPTG 1 1 Johan den Dunnen
00245068 patient 2 PubMed: Tiede 2004, Journal: Tiede 2004 sister of patient 1 F no Germany - - - - - ML weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence GNPTG GNPTG 1 1 Johan den Dunnen
00245069 patient 1 PubMed: Tiede 2004, Journal: Tiede 2004 2-generation family, 2 affected siblings, unaffected heterozygous carrier parents/relatives M - Germany - - - - - ML weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence; hyperopia, astigmatism GNPTG GNPTG 1 2 Johan den Dunnen
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