All individuals with variants in gene ASPM

509 entries on 6 pages. Showing entries 1 - 100.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00057250 Pat6 PubMed: Rump 2016 - F - - - - - - - MCPH5 brain magnetic resonance imaging: not available; additional clinical featuresmild intellectual disability, seizures, behavioural problems (brother with intellectual disability and microcephaly) 2 1 Birgit Sikkema-Raddatz
00057267 Pat32 PubMed: Rump 2016 - F - - - - - - - MCPH5 microcephaly; brain magnetic resonance imaging: simplified gyral pattern; additional clinical featuresseizures, behavioural problems, short stature, obesity, severe intellectual disability 2 1 Birgit Sikkema-Raddatz
00080943 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MCPH5 Microcephaly 5, primary, autosomal recessive (OMIM:608716) 1 1 Daniel Trujillano
00081001 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MCPH5 Microcephaly 5, primary, autosomal recessive (OMIM:608716) 1 1 Daniel Trujillano
00132087 Pat1 PubMed: Letard 2018 - M yes Macau Morocco - - - - MCPH5 ultrasound microcephaly second trimester pregnancy; birth OFC (SD-7.5), length (SD-1), weight (SD-1.6); OFC (SD-10), length (SD-5.8), weight (SD-1.3); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain -slight cortical atrophy; hyperactivity 1 1 Nathalie Pouvreau
00132088 Pat3 PubMed: Letard 2018 - F - France Morocco - - - - MCPH5 birth OFC (SD-6.7), length (SD-5.2), weight (SD-3.2); OFC (SD-5.8), length (SD-1), weight (SD-1.4); no epilepsy; MRI brain 0.6y-gyral simplification; thin corpus callosum; subcortical hypersignal on T2-weighted images; hyperpigmentation spot 1 1 Nathalie Pouvreau
00132089 Pat4 PubMed: Letard 2018 - M no France - - - - - MCPH5 birth OFC (SD-3.8), length (SD-1.5), weight (SD-0.9); OFC (SD-7.5), length (SD-2.5), weight (SD-2.8); <18m-no walk; no epilepsy; MRI brain 0.5y-gyral simplification; behavioral disorders 2 1 Nathalie Pouvreau
00132090 Pat5 PubMed: Letard 2018 - M no France - - - - - MCPH5 ultrasound no microcephaly; birth OFC (SD-3.4), length (SD0), weight (SD+1.1); OFC (SD-4.1), length (SD-0.8), weight (SD+0.9); <18m-no walk; speech <3y no first senteence; no epilepsy 2 1 Nathalie Pouvreau
00132091 Pat6 PubMed: Letard 2018 - F yes France Morocco - - - - MCPH5 birth weight (SD-1.5); OFC (SD-10.6), length (SD-2.2), weight (SD-2.5); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain gyral simplification; corpus callosum hypoplasia; congenital hip dislocation 1 1 Nathalie Pouvreau
00132121 Pat7 PubMed: Letard 2018 - M no Congo - - - - - MCPH5 birth OFC (SD-6.6), length (SD-2.5), weight (SD-2.2); OFC (SD-9.5), length (SD-0.8), weight (SD-0.8); <4y-epilepsy 1 1 Nathalie Pouvreau
00132122 Pat10 PubMed: Letard 2018 - F - France - - - - - MCPH5 ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.5), length (SD-0.2), weight (SD-0.7); OFC (SD-8.5), length (SD-0.2), weight (SD-0.4); <18m-walk; speech <3y no first senteence; 14y-epilepsy; MRI brain 0.8y-gyral simplification, mild ventricular enlargement; scaphocephaly; behavioral disorders 1 1 Nathalie Pouvreau
00132123 Pat11 PubMed: Letard 2018 - F no Spain - - - - - MCPH5 birth OFC (SD-2.7), length (SD-0.5), weight (SD-1); OFC (SD-3.4); <18m-walk; no epilepsy; 3y6m-Bayley III DQ95; MRI brain 1.7y-gyral simplification; arachnoid cyst in the posterior fossa; enlarged Virchow-Robin spaces 1 1 Nathalie Pouvreau
00132143 FamPat12.1 PubMed: Letard 2018 family, 2 affected sibs (F, M) F yes Egypt - - - - - MCPH5 OFC (SD-7.2), length (SD-3.7), weight (SD-1.9); no epilepsy; 7y-Stanford Binet DQ56; MRI brain 7y-gyral simplification, mild ventricular enlargement, thin corpus callosum and brainstem 1 2 Nathalie Pouvreau
00132144 Pat13 PubMed: Letard 2018 - M no France Cameroon - - - - MCPH5 ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.7), length (SD-2.5), weight (SD-2); OFC (SD-6.4), length (SD-0.6), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-III (5.5): FSIQ = 82*/ VIQ = 75/ PIQ = 90/ GCL = 77; MRI brain 5.5y-white matter hypersignal in T2-weighted images, ventricular enlargement 2 1 Nathalie Pouvreau
00132145 FamPat14.1 PubMed: Letard 2018 family, 2 affected sibs (2M) M ? Macau Morocco - - - - MCPH5 ultrasound microcephaly third trimester pregnancy; OFC (SD-8.5), length (SD+0.5); <18m-walk; speech <3y first senteence; 6m-epilepsy; hyperactivity, enuresis 1 2 Nathalie Pouvreau
00132146 Pat15 PubMed: Letard 2018 - F yes France Turkey - - - - MCPH5 ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.3), weight (SD-1.5); OFC (SD-5.5), length (SD+0.7), weight (SD+1.1); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain 0.5y-gyral simplification, enlarged subarachnoid spaces, mega cisterna magna 1 1 Nathalie Pouvreau
00132271 Pat18 PubMed: Letard 2018 - M no France Tunisia - - - - MCPH5 ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD+0.2); OFC (SD-6), length (SD2), weight (SD+1); <18m-walk; no epilepsy; behavioral disorders 1 1 Nathalie Pouvreau
00132272 FamPat17.1 PubMed: Letard 2018 family, 2 affected sibs (2M) M no France - - - - - MCPH5 ultrasound microcephaly third trimester pregnancy; birth OFC (SD-8.4), length (SD-2.6), weight (SD-4); OFC (SD-6.9), length (SD-1.5), weight (SD-1.6); <18m-no walk; speech <3y no first senteence; 7y-epilepsy; 4y6m-Borel-Maisonny DQ56; MRI brain 9y-slight left cerebral atrophy; cervicothoracic syringomyelia; spastic hemiplegic cerebral palsy, severe behavioral disorders 2 2 Nathalie Pouvreau
00132276 Pat19 PubMed: Letard 2018 - F no France - - - - - MCPH5 ultrasound no microcephaly; birth OFC (SD-7.2), length (SD-1.1), weight (SD-0.3); OFC (SD-7), length (SD-3), weight (SD-2.2); <18m-no walk; speech <3y no first senteence; 1y6m-epilepsy; MRI brain 0.3y-gyral simplification, thin corpus callosum, pineal cyst, large arachnoid cyst in the posterior fossa; left middle ear hypoplasia, behavioral disorders 1 1 Nathalie Pouvreau
00132277 Pat20 PubMed: Letard 2018 - M no Italy - - - - - MCPH5 ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-4.3), length (SD-0.5), weight (SD0); OFC (SD-5.6), length (SD-1.4), weight (SD-1.7); <18m-walk; speech <3y no first senteence; 6y-epilepsy; 9y3m-DQ34; MRI brain 7y-gyral simplification, polymicrogyria in fronto-insular region 1 1 Nathalie Pouvreau
00132279 Pat21 PubMed: Letard 2018 - M ? France - - - - - MCPH5 OFC (SD-6.3); <18m-no walk; 7y-epilepsy; MRI brain 45y-gyral simplification; mild ventricular enlargement; mega cisterna magna; hypersignal of the temporal poles in T2-weighted images; thin brainstem; major vermis and cerebellar atrophy; ceroid lipofuscinosis with identified CLN3 mutations (retinitis pigmentosa) 2 1 Nathalie Pouvreau
00132281 FamPat23.1 PubMed: Letard 2018 family, 2 affected sibs (2M) M yes Egypt - - - - - MCPH5 OFC (SD-10.8), length (SD-3.9), weight (SD-3.1); <18m-no walk; no epilepsy; MRI brain 4.3y-thick frontal gyri, gyral simplification; thick corpus callosum; extensive bilateral posterior polymicrogyria; spastic tetraplegia 1 2 Nathalie Pouvreau
00132282 FamPat24.1 PubMed: Letard 2018 family, 3 affected sibs (2F, M) F yes Morocco - - - - - MCPH5 ultrasound no microcephaly; OFC (SD-4.3), length (SD-2), weight (SD-1.2); <18m-walk; speech <3y no first senteence; no epilepsy 1 3 Nathalie Pouvreau
00132284 Pat8 PubMed: Letard 2018 - M ? France Africa - - - - MCPH5 ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD-0.8); OFC (SD-5.6), length (SD+1.5), weight (SD+0.6); <18m-no walk; speech <3y no first senteence; no epilepsy; WPPSI-III (3.7): FSIQ = 60*/ VIQ = 74/ PIQ = 54/ GCL = 85; MRI brain 3.7y-ventricular enlargement, cerebellar hypoplasia, subcortical hypersignal on T2-weighted images, elongated superior cerebellar peduncles 2 1 Nathalie Pouvreau
00150141 26539891-FamBAB4837 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly 1 2 Johan den Dunnen
00150142 26539891-FamBAB4914 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly 1 2 Johan den Dunnen
00150143 26539891-FamBAB5056 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly 1 1 Johan den Dunnen
00154976 - - - M - (Germany) - - - - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Pachygyria (HP:0001302) 2 1 IMGAG
00208783 - - - F - Germany - - - - - - HP:0000252 (Microcephaly); HP:0001263 (Global developmental delay) 1 1 Andreas Laner
00275641 FamMR94Pat5 PubMed: Santos-Cortez 2018 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - ID OFC 40.5cm; IQ 20, severe intellectual disability (HP:0010864); microcephaly 1 4 Johan den Dunnen
00275642 FamMR94Pat6 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 42.1cm; IQ 20, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275643 FamMR94Pat7 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 38.5cm; IQ 20, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275644 FamMR94Pat8 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 34.5cm; IQ 20, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275656 FamMR115Pat1 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 43.5cm; IQ 40, moderate intellectual disability (HP:0002342); microcephaly 1 3 Johan den Dunnen
00275657 FamMR115Pat2 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 43.5cm; IQ 40, moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00275658 FamMR115Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 44.5cm; IQ 50, mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00289631 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289632 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 192 Mohammed Faruq
00289633 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289634 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289635 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289636 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289637 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 46 Mohammed Faruq
00289638 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 55 Mohammed Faruq
00289639 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 53 Mohammed Faruq
00289640 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 41 Mohammed Faruq
00295110 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 107 Mohammed Faruq
00295357 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00304172 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00304173 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304174 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00305323 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00317996 PKMR102 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Microcephaly 1 1 Johan den Dunnen
00374206 S-887 PubMed: Ganapathy 2019 - - - India - - - - - ? Microcephaly, mental retardation, unclear speech, behavioural problems and impaired motor functions 1 1 Johan den Dunnen
00374207 S-1362 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of primary microcephaly 2 1 Johan den Dunnen
00374208 S-1339 PubMed: Ganapathy 2019 - - - India - - - - - ? Primary microcephaly, speech delay and hyperactive with DQ of 67-74 1 1 Johan den Dunnen
00387828 M8800033 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents once removed - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387845 M8900177 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Azeri - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387849 M8900189 PubMed: Hu 2019 family, 3 affected individuals, third cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 3 Johan den Dunnen
00387882 M9000091 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 3 Johan den Dunnen
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
00408082 3 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - - - - retinal disease One year old male infant born with microcephaly and IUGR and all the growth parameters continued to be below third percentile. He had developmental delay and some distinctive facial features (small nose and low-set ears). His parents were cousins and he had 2 healthy siblings. 1 1 LOVD
00428770 Pat24 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected, boy and affected carrier mother M - - - - - - - NDD see paper; ..., speech delay, motor delay, intellectual disability, autistic traits, no behavioral problems, dysmorphism, no genitourinary anomalies; mother ADHD, history of delays 1 2 Johan den Dunnen
00433334 Pat10;Pan17;Pat3 PubMed: Passemard 2009, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient M no Algeria;Lebanon white - - - - microcephaly primary microcephaly, pyramidal syndrome; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia 2 1 Johan den Dunnen
00433335 ?;FamA;Pat4 PubMed: Tunca 2006, PubMed: Desir 2006, PubMed: Duerinckx 2021 family, 1 affected and terminated pregnancy F yes Turkey - - - - - microcephaly primary microcephaly; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy 1 2 Johan den Dunnen
00433336 Pat2;Pat5 PubMed: Letard 2018, PubMed: Duerinckx 2021 family, affected brother/sister M no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R); birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R) 2 2 Johan den Dunnen
00433337 family;?;Pan15;Pat6 PubMed: Jamieson 2000, PubMed: Bond 2003, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 2-generation family, 4 affected sibs (F, 3M) unaffected heterozygous carrier parents M yes Turkey - - - - - microcephaly primary microcephaly; OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill); OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill) 1 4 Johan den Dunnen
00433338 Pat16;Pan1;Pat7 PubMed: Letard 2018, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, 2 affected sibs M yes Turkey - - - - - microcephaly primary microcephaly, closed fontanelles before birth; birth OFC (SD-2), weigth (SD1), length median; no epilepsy; birth OFC (SD-2), weigth (SD1), length median; no epilepsy 1 2 Johan den Dunnen
00433339 Pat22;Pat8 PubMed: Letard 2018, PubMed: Duerinckx 2021 patient F yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal 1 1 Johan den Dunnen
00433340 ?;FamB;Pat9 PubMed: Tunca 2006, PubMed: Desir 2006, PubMed: Duerinckx 2021 family, 3 affected, affected uncle, affected and terminated pregnancy M yes Turkey - - - - - microcephaly primary microcephaly; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal 1 3 Johan den Dunnen
00433341 patient;Pan12;Pat10 PubMed: Desir 2008, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 5-generation family, affected sister/brother (F, M), unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern 1 2 Johan den Dunnen
00433342 Pat9;Pan16;Pat11 PubMed: Letard 2018, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient F no - white;Europe - - - - microcephaly primary microcephaly; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern 2 1 Johan den Dunnen
00433343 Pat12 PubMed: Duerinckx 2021 patient, parents same village M - Portugal - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia 1 1 Johan den Dunnen
00433498 Fam9000013PatV1/2 PubMed: Akbariazar 2013 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Iran - - - - - microcephaly see paper 1 2 Johan den Dunnen
00433499 patient PubMed: Al-Gazali 2010 - - - United Arab Emirates - - - - - microcephaly - 1 1 Johan den Dunnen
00433500 patient PubMed: Al-Gazali 2010 - - - United Arab Emirates - - - - - microcephaly - 1 1 Johan den Dunnen
00433502 FamM-8900188 PubMed: Papari 2013 4-generation family, 3 affected (3M), unaffected heterozygous parents M yes Iran - - - - - microcephaly microcephaly, moderate–severe intellectual disability 1 1 Johan den Dunnen
00433503 FamAPatIV3 PubMed: Khan 2017 4-generation family, 1 affected, unaffected heterozygous parents M yes Qatar - - - - - microcephaly - 1 1 Johan den Dunnen
00433504 FamB PubMed: Khan 2017 5-generation family, 4 affected, (4M) unaffected heterozygous parents/relatives M yes Qatar - - - - - microcephaly - 1 4 Johan den Dunnen
00433505 family PubMed: Shen 2005 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M - Saudi Arabia - - - - - microcephaly - 11 3 Johan den Dunnen
00433506 family PubMed: Hashmi 2016 4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M yes Saudi Arabia - - - - - microcephaly - 1 3 Johan den Dunnen
00433508 family PubMed: Saadi 2009 6-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Algeria - - - - - microcephaly see paper 2 1 Johan den Dunnen
00433509 patient PubMed: Nakamura 2015 2-generation family, 1 affected, unaffected heterozygous parents M no Japan - - - - - microcephaly see paper; ..., microcephaly, anterior predominant pachygyria 2 1 Johan den Dunnen
00433510 family PubMed: Marchal 2011, PubMed: Hu 2014 4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M yes Germany Turkey - - - - microcephaly see paper 2 1 Johan den Dunnen
00433511 FamPatIII7/10 PubMed: Ariani 2013 4-generation family, 2 affected brothers, 6 female carriers with microcephaly, 1 female carrier healthy M no Italy - - - - - microcephaly moderate-severe intellectual disability, congenital microcephaly [OFC 42.5 cm (-7.8 SD), height 182 cm (75-90th percentile); not able to read, able to write name; MRI brain global reduction brain size, thin brain stem, normal corpus callosum, normal temporal pachygiria; cardiac ultrasound mild tricuspid valve insufficiency 2 2 Johan den Dunnen
00433512 Fam1PatII1/2/3/4 PubMed: Bond 2002 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F;M yes Pakistan - - - - - microcephaly - 1 4 Johan den Dunnen
00433513 Fam2 PubMed: Bond 2002 - - - Pakistan - - - - - microcephaly - 1 1 Johan den Dunnen
00433514 Fam3 PubMed: Bond 2002 - - yes Pakistan - - - - - microcephaly - 1 1 Johan den Dunnen
00433515 Fam4 PubMed: Bond 2002 - - yes Pakistan - - - - - microcephaly - 1 1 Johan den Dunnen
00433516 Fam1 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433517 Fam2 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433518 Fam3 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433519 Fam4 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433520 Fam5 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433521 Fam6 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433522 Fam7 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433523 Fam8 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433524 Fam9 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
00433525 Fam10 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper 1 1 Johan den Dunnen
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