Disease #03150

Official abbreviation MYPCN
Name myopathy, congenital, Compton-North (MYPCN)
OMIM ID 612540
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene CNTN1
Associated tissues -
Disease features -
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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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 CNTN1 CNTN1 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 CNTN1 CNTN1 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 CNTN1 CNTN1 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 CNTN1 CNTN1 1 1 Johan den Dunnen
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