All individuals with variants in gene PDE4D

44 entries on 1 page. Showing entries 1 - 44.
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00064690 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; prominent mandible; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotoer delay (walked at 17m of age); intracranial hypertension with thrombophlebitis of the transverse sinus and jugular 1 1 Johan den Dunnen
00064691 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 intrauterine growth retardation; advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment; intracranial hypertension with jugular stenosis requiring derivation 1 1 Johan den Dunnen
00064692 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (M) M - United States - - - - - ACRDYS2 - 1 1 Danielle Lynch
00064693 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment 1 1 Johan den Dunnen
00064694 - PubMed: Lee 2012 carries also NM_001195220.1(ZNF783_v001):c.187C>T F - United States - - - - - ACRDYS2 small hands, midface hypoplasia 1 1 Johan den Dunnen
00064695 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (F) F - United States - - - - - ACRDYS2 - 1 1 Danielle Lynch
00064696 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 4 affecteds (F, 3M) F;M - United States - - - - - ? - 1 4 Danielle Lynch
00064697 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (F) F - United States - - - - - ACRDYS2 - 1 1 Danielle Lynch
00064698 - PubMed: Michot 2012 - M - France - - - - - ACRDYS2 advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotor delay requiring physiotherapy 1 1 Johan den Dunnen
00064699 - PubMed: Lee 2012 - M - United States - - - - - ACRDYS2 mild short stature, small hands, midface hypoplasia, lumbar stenosis; significant developmental disability; cryptorchidism 1 1 Johan den Dunnen
00064700 - PubMed: Lee 2012 - M - United States - - - - - ACRDYS2 mild short stature, small hands, midface hypoplasia, lumbar stenosis; mild developmental disability; congenital hypothyroidism 1 1 Johan den Dunnen
00064701 - PubMed: Lynch 2013, Journal: Lynch 2013 2-generation family, 1 affected (M) M - United States - - - - - ? - 1 1 Danielle Lynch
00080728 - PubMed: Elli et al.2016 affected twins (male+female) - no (Italy) - - - - - ACRDYS2 PTH resistance, TSH resistance, obesity, mental retardation, craniosynostosis 1 1 Francesca Marta Elli
00080729 - PubMed: Elli et al.2016 - F no (Italy) - - - - - ACRDYS2 TSH resistance, short stature, obesity, brachydactily, mental rtardation cholelithiasis 1 1 Francesca Marta Elli
00080730 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation 1 1 Francesca Marta Elli
00080732 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cryptorchidism, vesicoureteral reflux 1 1 Francesca Marta Elli
00080740 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 PTH resistance, dysmorphic facies, btachydactily, shypo-deformity of knees 1 1 Francesca Marta Elli
00080741 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, shypo-deformity of knees and shoulders 1 1 Francesca Marta Elli
00080759 - PubMed: Mitsui et al.2014 - F ? - - - - - - ACRDYS2 dysmorphic facies, brachydactily, mental retardation, failure to thrive, shypo-deformity of knees and shoulders 1 1 Francesca Marta Elli
00080760 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 transient PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, cryptorchidism 1 1 Francesca Marta Elli
00080761 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, DMT1, recurrent otitis media, lack of puberal growth spurt 1 1 Francesca Marta Elli
00080762 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, hypertension, aortic valve insufficiency 1 1 Francesca Marta Elli
00080764 - PubMed: Lindstrand et al.2014 - M - - - - - - - ACRDYS2 PTH resistance, short stature, obesity, dysmorphic facies, btachydactily, mental retardation, recurrent otitis media 1 1 Francesca Marta Elli
00080765 - PubMed: Lindstrand et al.2014 - F - - - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, unilateral hydronephrosis 1 1 Francesca Marta Elli
00080766 - PubMed: Linglart et al.2012 - F - - - - - - - ACRDYS2 short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080767 - PubMed: Linglart et al.2012 - F - - - - - - - ACRDYS2 obesity, dysmorphic facies, brachydatily, mental retardation, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080769 - PubMed: Kaname et al.2014 familial case - - - - - - - - ACRDYS2 borderline PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age 1 1 Francesca Marta Elli
00080770 - PubMed: Kaname et al.2014 - M - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advancd bone age 1 1 Francesca Marta Elli
00080771 - PubMed: Kaname et al.2014 - F - - - - - - - ACRDYS2 dysmorphic facies, brachydactily, mental retardation, advanced bone age 1 1 Francesca Marta Elli
00080772 - PubMed: Kaname et al.2014 - M - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age 1 1 Francesca Marta Elli
00080773 - PubMed: Kaname et al.2014 familial case - - - - - - - - ACRDYS2 short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age 1 1 Francesca Marta Elli
00100343 - NOT PUBLISHED - F - Spain - - - - - ACRDYS2 - 1 1 Arrate Pereda
00100374 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) F - (France) - - - - - ACRDYS2 - 1 2 Caroline Silve
00100375 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - 1 1 Caroline Silve
00100376 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) M - (France) - - - - - ACRDYS2 - 1 2 Caroline Silve
00100377 - NOT PUBLISHED - F - (France) - - - - - ACRDYS2 - 1 1 Caroline Silve
00100378 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - 1 1 Caroline Silve
00100379 - NOT PUBLISHED - F - (France) - - - - - ACRDYS2 - 1 1 Caroline Silve
00100380 - NOT PUBLISHED - M - (France) - - - - - ACRDYS2 - 1 1 Caroline Silve
00131945 - NOT PUBLISHED - F - Portugal - - - - - ACRDYS2 severe brachydactyly; thick hair; hypertrichosis arms; hip bone replacement–osteoarthrosis; abnormal stature, normal teeth; mil/moderate intellectual disability; dysmorphic face; no clacifications; normal calcium homeastasis; high circulating parathyroid hormone (HP:0003165); vitamin D deficiency (HP:0100512) 1 1 Arrate Pereda
00293886 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00309889 - - - F - - - - - - - ? Brachydactyly (HP:0001156); Depressed nasal bridge (HP:0005280); Limb undergrowth (HP:0009826); Midface retrusion (HP:0011800); Small hand (HP:0200055) 1 1 IMGAG
00315859 170352 - - F ? Germany - - - - - ACRDYS2 neurodevelopmental abnormality, global developmental delay, short stature, facial abnormality; delayed growth; progressive intellectual disability (HP:0006887); dysmorphic face (HP:0001999); decreased body weight (HP:0004325) 1 1 Andreas Laner
00380409 Pat14 PubMed: Goodman 2021, Journal: Goodman 2021 - - - - - - - - - NDD global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; no seizures; no microcephaly 1 1 Johan den Dunnen
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