Disease #00277 (DWFP (dwarfism, primordial (DWFP)))

Official abbreviation DWFP
Name dwarfism, primordial (DWFP)
OMIM ID -
Inheritance -
Individuals reported having this disease 37
Phenotype entries for this disease 34
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-22 16:21:08 +01:00 (CET)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00004048 - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, unaffected carrier parents, deceased sister M yes Saudi Arabia Arab - - - - DWFP characteristic facies, hypoplastic terminal phalanges, osteopenia, blind, profound global developmental delay, hypopigmented skin patches and talipes. Bifrontal subdural hygroma on brain MRI CRIPT CRIPT 1 4 Fowzan Alkuraya
00004051 - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, unaffected carrier parents, deceased brother M yes Egypt Arab 00y00m70d - - - DWFP characteristic facies, hypoplastic terminal phalanges, osteopenia, albinoid fundus, markedly impaired retinal function, recurrent infections, PDA, persistent anemia (Hb 8.3 g/dl) with anisopoikilocytosis. MRI showed increase white matter signal and hypogenesis of corpus callosum CRIPT CRIPT 1 4 Fowzan Alkuraya
00004052 24389050-Pat, -Fam08DG00385 PubMed: Shaheen 2014, Journal: Shaheen 2014, PubMed: Alazami 2015, Journal: Alazami 2015 5-generation family, unaffected carrier parents F yes Saudi Arabia Arab 02y08m - - - DWFP global developmental delay, bilateral hip dysplasia, ectopic kidney, PDA, retinoblastoma and brain glioma, normal blood indices and bone marrow BRCA2 BRCA2 1 1 Fowzan Alkuraya
00004053 - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - DWFP see paper; ... IGF1 IGF1 1 2 Fowzan Alkuraya
00004054 - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, unaffected heterozygous carrier parents, deceased sister F yes Saudi Arabia Arab - - - - DWFP normal motor development, speech delay, triangular bird-like face, and short philtrum AKAP11, VEGFC, XRCC4 AKAP11, VEGFC, XRCC4 3 4 Fowzan Alkuraya
00105004 25728776-PatP1 PubMed: Murray 2015, Journal: Murray 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - DWFP microcephalic primordial dwarfism (MPD), see paper; ..., extreme microcephaly (-8.3 SD), short stature (-4.7 SD) XRCC4 XRCC4 1 1 Johan den Dunnen
00105005 25728776-PatP2 PubMed: Murray 2015, Journal: Murray 2015 - M - Morocco - - - - - DWFP see paper; ... XRCC4 XRCC4 2 1 Johan den Dunnen
00105006 25728776-Fam3Pat3-1/2 PubMed: Murray 2015, Journal: Murray 2015 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Italy - - - - - DWFP see paper; ... XRCC4 XRCC4 2 2 Johan den Dunnen
00105007 25728776-Fam4Pat4 PubMed: Murray 2015, Journal: Murray 2015 - M - France - - - - - DWFP see paper; ... XRCC4 XRCC4 2 1 Johan den Dunnen
00105008 25728776-Fam5Pat5 PubMed: Murray 2015, Journal: Murray 2015 - M - United Kingdom (Great Britain) - - - - - DWFP see paper; ... XRCC4 XRCC4 2 1 Johan den Dunnen
00105009 25728776-Fam PubMed: Murray 2015, Journal: Murray 2015 2-generation family, dizygotic twins, unaffected heterozygous carrier parents F;M - - - - - - - DWFP see paper; ... LIG4 LIG4 2 2 Johan den Dunnen
00460130 Pat1 PubMed: Rauch 2008 - F yes Turkey - - - - - DWFP see paper; ..., mild developmental delay; multiple aneurysms, Moyamoya disease PCNT PCNT 1 1 Johan den Dunnen
00460131 Pat2 PubMed: Rauch 2008 - F yes - Kurdish - - - - DWFP see paper; ..., no developmental dealy; Moyamoya disease PCNT PCNT 1 1 Johan den Dunnen
00460132 Pat3 PubMed: Rauch 2008 - M yes Oman - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460133 Pat4 PubMed: Rauch 2008 - F yes Pakistan - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460134 Pat1;Pat5 PubMed: Majewski 1998, PubMed: Rauch 2008 - M no Turkey - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 2 1 Johan den Dunnen
00460135 patient;Pat6 PubMed: Young 2004, PubMed: Rauch 2008 - F yes India - - - - - DWFP see paper; ..., severe developmental delay (normal until strokes); Moyamoya disease, multiple infarcts PCNT PCNT 1 1 Johan den Dunnen
00460136 Pat7 PubMed: Rauch 2008 - M yes India - - - - - DWFP see paper; ..., moderate developmental delay; frontal atrophy PCNT PCNT 1 1 Johan den Dunnen
00460137 Pat8 PubMed: Rauch 2008 - F yes Portugal - - - - - DWFP see paper; ..., mild-moderate developmental dealy; ischemic lesion, stroke PCNT PCNT 1 1 Johan den Dunnen
00460138 Pat9 PubMed: Rauch 2008 - M no Belgium - - - - - DWFP see paper; ..., mild developmental delay (VIQ78, PIQ53, FSIQ60); sub-arachnoid bleeding PCNT PCNT 2 1 Johan den Dunnen
00460139 Pat10 PubMed: Rauch 2008 - F yes Oman - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460140 Pat3;Pat11 PubMed: Majewski 1998, PubMed: Rauch 2008 - M no Turkey - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460141 Pat12 PubMed: Rauch 2008 - M no Germany - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 2 1 Johan den Dunnen
00460142 PPat2;at13 PubMed: Majewski 1998, PubMed: Rauch 2008 - M yes Turkey - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460143 Pat14 PubMed: Rauch 2008 - M yes Palestine - - - - - DWFP see paper; ..., mild developmental delay; Moyamoya disease, multiple infarcts PCNT PCNT 1 1 Johan den Dunnen
00460144 Pat15a PubMed: Rauch 2008 4-generation family, 2 affected brothers M yes Netherlands - - - - - DWFP see paper; ..., severe developmental delay; enlarged ventricles PCNT PCNT 1 2 Johan den Dunnen
00460145 Pat15b PubMed: Rauch 2008 brother M yes Netherlands - - - - - DWFP see paper; ..., severe developmental delay; hydrocephalus PCNT PCNT 1 1 Johan den Dunnen
00460146 Pat16 PubMed: Rauch 2008 - M yes (Iraq) - - - - - DWFP see paper; ..., mild-moderate developmental dealy PCNT PCNT 1 1 Johan den Dunnen
00460147 Pat17 PubMed: Rauch 2008 - F yes Lebanon - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460148 Pat18 PubMed: Rauch 2008 - F no Poland - - - - - DWFP see paper; ..., borderline developmental delay (VIQ 81, PIQ 80, FSIQ 79) PCNT PCNT 1 1 Johan den Dunnen
00460149 Pat19 PubMed: Rauch 2008 - F no Netherlands - - - - - DWFP see paper; ..., mild developmental delay (IQ60-65) PCNT PCNT 2 1 Johan den Dunnen
00460150 Pat20 PubMed: Rauch 2008 - F no England - - - - - DWFP see paper; ..., no developmental dealy; Moyamoya disease, epilepsy PCNT PCNT 1 1 Johan den Dunnen
00460151 Pat21 PubMed: Rauch 2008 - M no England - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 1 1 Johan den Dunnen
00460152 patient;Pat22 PubMed: Brancati 2005, PubMed: Rauch 2008 - M no Italy - - - - - DWFP see paper; ..., mild developmental delay; Moyamoya disease, ischemic lesion PCNT PCNT 1 1 Johan den Dunnen
00460153 Pat23 PubMed: Rauch 2008 - M no Ireland - - - - - DWFP see paper; ..., no developmental dealy PCNT PCNT 2 1 Johan den Dunnen
00460154 Pat24 PubMed: Rauch 2008 - M no Germany - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 2 1 Johan den Dunnen
00460155 Pat25 PubMed: Rauch 2008 - F no England - - - - - DWFP see paper; ..., mild developmental delay PCNT PCNT 2 1 Johan den Dunnen
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