All individuals with variants in gene CNTN1

5 entries on 1 page. Showing entries 1 - 5.
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00151374 - PubMed: Jones 2003 5-generation family, 4 affecteds, 9 carriers, consanguineous parents (1st degree) M yes Egypt - 0d 0 - - MYPCN 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth 1 4 Johan den Dunnen
00151375 - PubMed: Jones 2003 brother of 19026398-V.2 M yes Egypt - 0d 0 - - MYPCN 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth 1 1 Johan den Dunnen
00151376 - PubMed: Jones 2003 sister of 19026398-V.2 F yes Egypt - 0d 0 - - MYPCN 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth 1 1 Johan den Dunnen
00151377 - PubMed: Jones 2003 niece of 19026398-V.2 F yes Egypt - 1m 0 - - MYPCN 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); birth-required intubation/ventilation, low weight, hypotonic (absent deep tendon reflexes), scaphocephaly, oval face, hypertelorism, high arched palate; died from respiratory failure; normal CPK level 1 1 Johan den Dunnen
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 1 1 Florian Erger
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