All individuals with variants in gene AP4E1

9 entries on 1 page. Showing entries 1 - 9.
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00011655 - PubMed: Abou Jamra 2011 3-generation family, 2 affecteds, unaffacted carrier parents M yes Syria - - 0 - - ID severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight 1 1 Johan den Dunnen
00011656 - - 3-generation family, 2 affecteds, unaffected carrier parents F yes Syria - - 0 - - ID severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight 1 1 Johan den Dunnen
00011657 - PubMed: Abou Jamra 2011 family ? yes Syria - - 0 - - ID - 1 1 Johan den Dunnen
00011658 - PubMed: Abou Jamra 2011 - - - Syria - - 0 - - Healthy/Control - 1 160 Johan den Dunnen
00011659 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents F yes Jordan Palestine - 0 - - ID severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing 1 1 Johan den Dunnen
00011660 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - 0 - - ID severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing 3 1 Johan den Dunnen
00080818 - Trujillano et al., submitted unaffected parents - - - - - 0 - - CPSQ-4 Spastic paraplegia 51 (OMIM:613744) 1 1 Daniel Trujillano
00150233 26539891-PatBAB5029 PubMed: Karaca 2015 2-generation family, 2 affected brothers, unaffected carrier parents M yes Turkey - - 0 - - ? intellectual disability, microcephaly, seizures, spasticity, hyperintensity changes in both cerebellar hemispheres and subcortical deep white matter 1 1 Johan den Dunnen
00291262 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
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