All individuals with variants in gene FMN2

10 entries on 1 page. Showing entries 1 - 10.
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00289786 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307946 17DG0768 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Intellectual disability, Microcephaly, Sloping forehead, Prominent nose, Pachygyria, Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Arnold-Chiari type I malformation 1 1 Johan den Dunnen
00362198 ARID-628-IV-4 PubMed: Law 2014 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - ID intellectual disability; OFC 52.4 cm; speech 1-2 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; hypotonia; no microcephaly; seizures (controlled Carbamazepine); ECG normal; no spasticity; no visual abnormalities; mitral valve prolapse; MRI brain normal 1 2 Johan den Dunnen
00362199 ARID-628-IV-5 PubMed: Law 2014 sister M yes Pakistan - - - - - ID intellectual disability; OFC 50.3 cm; speech 1-2 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; hypotonia; no microcephaly; seizures (controlled Carbamazepine); no spasticity; no visual abnormalities 1 1 Johan den Dunnen
00362200 ARID-49-IV-1 PubMed: Law 2014 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - ID intellectual disability; OFC 51.7 cm; speech full sentences; normal hearing; daily activities independent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities 1 3 Johan den Dunnen
00362201 ARID-49-IV-2 PubMed: Law 2014 sister F yes Egypt - - - - - ID intellectual disability; OFC 51.6 cm; speech 2-3 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities 1 1 Johan den Dunnen
00362202 ARID-49-IV-3 PubMed: Law 2014 sister F yes Egypt - - - - - ID intellectual disability; OFC 50.4 cm; speech single words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities; MRI brain normal 1 1 Johan den Dunnen
00387910 M9200008 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Kurd - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00409231 FamPatIII2 PubMed: Li 2022 3-generation family, 3 affected (3F, mother, daughter, granddaughter) F no China - >35y - - - POF see paper; ..., y-amenorrhea (HP:0000141), no pregnancies 1 3 Maeve Soen
00411071 patient PubMed: Li 2022 sporadic case F - China - - - - - POF see paper; ..., 23y-amenorrhea, no pregnancies 1 1 Johan den Dunnen
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