Disease #05421 (microcephaly (microcephaly))

Official abbreviation microcephaly
Name microcephaly
OMIM ID -
Inheritance -
Individuals reported having this disease 525
Phenotype entries for this disease 437
Associated with 5 genes ASPM, CRNKL1, FAM178A, MCM7, SMC5
Associated tissues -
Disease features -
Remarks -
Date created 2018-04-15 11:41:15 +02:00 (CEST)
Date last edited N/A


Individuals

525 entries on 6 pages. Showing entries 1 - 100.
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00163779 - - - - - - - - - - - microcephaly - KIF11 KIF11 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00163846 IV-1 PubMed: Pagnamenta 2018 DECIPHER ID 265247 M yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 2 Philippe Campeau
00163847 IV-2 PubMed: Pagnamenta 2018 - F yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 1 Philippe Campeau
00207877 29370840-FamFet1/2 PubMed: Wang 2018 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - no China north - - - - microcephaly see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00265259 MFSD2A - - - yes Iran - - - - - microcephaly - MFSD2A MFSD2A 1 1 Ehsan Razmara
00282809 - PubMed: Alazami 2015, PubMed: Ercan-Sencicek 2015, PubMed: Michelson 2011 - - - - - - - - - microcephaly - DIAPH1 DIAPH1 1 1 Global Variome, with Curator vacancy
00299928 - - - M ? United States - - - - - microcephaly - - KIF21B 1 1 Juliette Godin
00307139 RABopathies 1 - - F yes Iran Lur - - - - microcephaly HP:0000519 HP:0007970 HP:0009062 HP:0001257 HP:0100022 HP:0001273 HP:0001344 HP:0006808 HP:0010864 HP:0002063 HP:0001257 HP:0003868 HP:0003928 HP:0002944 HP:0000175 HP:0000028 HP:0000998 HP:0003868 HP:0000369 HP:0003928 RAB3GAP1 RAB3GAP1 1 1 Ehsan Razmara
00315964 - Ullah ASHG2020 2-generation family, 1 affected, unaffected parents F - - - - - - - microcephaly microcephaly, facial dysmorphism, nasal bridges, eczema, epilepsy, short stature, global developmental delay FAM178A FAM178A 2 1 Johan den Dunnen
00315965 - Ullah ASHG2020 2-generation family, 1 affected, unaffected parents F - - - - - - - microcephaly - FAM178A FAM178A 1 1 Johan den Dunnen
00315966 - Ullah ASHG2020 2-generation family, 1 affected, unaffected parents F - - - - - - - microcephaly - FAM178A FAM178A 1 1 Johan den Dunnen
00315967 - Ullah ASHG2020 2-generation family, affected brother/sister, unaffected parents F;M - - - - - - - microcephaly - FAM178A FAM178A 2 2 Johan den Dunnen
00315968 - Ullah ASHG2020 2-generation family, 1 affected, unaffected parents F - - - - - - - microcephaly - SMC5 SMC5 2 1 Johan den Dunnen
00315969 - Ullah ASHG2020 2-generation family, 1 affected, unaffected parents F - - - - - - - microcephaly - SMC5 SMC5 1 1 Johan den Dunnen
00315970 - Ullah ASHG2020 2-generation family, 2 affected brothers, unaffected parents M - - - - - - - microcephaly - SMC5 SMC5 1 2 Johan den Dunnen
00418892 - - - - - - - - - - - microcephaly - CENPJ CENPJ 1 1 Andrea Accogli
00433329 PatA PubMed: Duerinckx 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Iran - - - - - microcephaly primary microcephaly, short stature - IGF2BP3 1 1 Johan den Dunnen
00433330 PatB PubMed: Duerinckx 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - - - - microcephaly primary microcephaly - DNAH2 2 1 Johan den Dunnen
00433331 PatC PubMed: Duerinckx 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Russia - - - - - microcephaly primary microcephaly - DNAH2 2 1 Johan den Dunnen
00433332 Pat1 PubMed: Duerinckx 2021 patient, parents same village M - Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth (SD-3), length (SD-3); OFC (SD-2.5), weigth (SD-1), length (SD-1.5); no epilepsy; SON‐IQ67 (5y6m) (SON‐R); MRI normal; birth OFC (SD-2.5), weigth (SD-3), length (SD-3); OFC (SD-2.5), weigth (SD-1), length (SD-1.5); no epilepsy; SON‐IQ67 (5y6m) (SON‐R); MRI normal - - 1 1 Johan den Dunnen
00433333 patient;Pat2 PubMed: Duerinckx 2017, PubMed: Duerinckx 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - microcephaly primary microcephaly, progressive spasticity; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles - AP4M1 1 1 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 - ASPM 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 - ASPM 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) - ASPM 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) - ASPM 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 - ASPM 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 - ASPM 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 - ASPM 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 - ASPM 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 - ASPM 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 - ASPM 1 1 Johan den Dunnen
00433344 Pan60;Pat13 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient M yes Morocco - - - - - microcephaly primary microcephaly, short stature; OFC (SD-7), weigth (SD-2), length (SD-3.5); no epilepsy; moderate/severe intellectual disability; OFC (SD-7), weigth (SD-2), length (SD-3.5); no epilepsy; moderate/severe intellectual disability - CASC5 1 1 Johan den Dunnen
00433345 PatS1;Pat14 PubMed: Genin 2012, PubMed: Duerinckx 2021 family, 2 affected brothers M yes Morocco - - - - - microcephaly primary microcephaly, short stature; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal - CASC5 1 2 Johan den Dunnen
00433346 PatY1;Pat15 PubMed: Genin 2012, PubMed: Duerinckx 2021 patient F yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres - CASC5 1 1 Johan den Dunnen
00433347 PatE1;Pat16 PubMed: Genin 2012, PubMed: Duerinckx 2021 family, 4 affected sibs M yes Morocco - - - - - microcephaly primary microcephaly, short stature; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern - CASC5 1 4 Johan den Dunnen
00433348 Pat28;Pat17 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, 2 affected sisters F yes Morocco - - - - - microcephaly severe primary microcephaly, short stature; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly - CASC5 1 2 Johan den Dunnen
00433349 Pan59;Pat18 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient F yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe - CDK5RAP2 1 1 Johan den Dunnen
00433350 Pat19 PubMed: Duerinckx 2021 family, 2 affected sisters F yes Morocco - - - - - microcephaly primary microcephaly, café au lait spots; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly - CDK5RAP2 1 2 Johan den Dunnen
00433351 Pat21;Pat20 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, affected brother/sister M no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy); birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy) - CEP152 2 2 Johan den Dunnen
00433352 Pat21 PubMed: Duerinckx 2021 patient M no - white - - - - microcephaly primary microcephaly; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal - CEP152 2 1 Johan den Dunnen
00433353 Pat3;Pat22 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient F yes Turkey - - - - - microcephaly Cockayne syndrome; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability - ERCC8 1 1 Johan den Dunnen
00433354 Pat23 PubMed: Duerinckx 2021 patient F yes Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization - MCPH1 1 1 Johan den Dunnen
00433355 Pat24 PubMed: Duerinckx 2021 patient M yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern - MCPH1 1 1 Johan den Dunnen
00433356 Pat25 PubMed: Duerinckx 2021 patient F yes Turkey - - - - - microcephaly primary microcephaly; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch - MCPH1 1 1 Johan den Dunnen
00433357 Pat26 PubMed: Duerinckx 2021 patient F yes Turkey - - - - - microcephaly primary microcephaly; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA - PNKP 1 1 Johan den Dunnen
00433358 Pat27 PubMed: Duerinckx 2021 patient F yes Morocco - - - - - microcephaly primary microcephaly, short stature, spastic quadriparesia; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum - RTTN 1 1 Johan den Dunnen
00433359 FamPatII1/3;Pat28 PubMed: Duerinckx 2018, PubMed: Duerinckx 2021 2-generation family, affected sister/brother F yes Morocco - - - - - microcephaly primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter - COL22A1, MCPH1, TRAPPC9 3 3 Johan den Dunnen
00433360 FamPatIV5;Pat6;Pat29 PubMed: Igoillo-Esteve 2013, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 5-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - microcephaly primary microcephaly, young onset diabetes, short stature; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal - TRMT10A 1 3 Johan den Dunnen
00433361 Pat24;Pat30 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient M no Belgium - - - - - microcephaly primary microcephaly, axial hypotonia, visual abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities - TUBA1A 1 1 Johan den Dunnen
00433362 Pat31 PubMed: Duerinckx 2021 family, 2 affected brothers M yes Belgium - - - - - microcephaly primary microcephaly, fluctuant neutropenia, truncal obesity, retinal dystrophy, joints hyperlaxity; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal - VPS13B 1 2 Johan den Dunnen
00433363 Pat32 PubMed: Duerinckx 2021 patient M no - white - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria - WDR62 2 1 Johan den Dunnen
00433364 Pat33 PubMed: Duerinckx 2021 patient F no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria - WDR62 2 1 Johan den Dunnen
00433365 Pat34 PubMed: Duerinckx 2021 patient M yes Turkey - - - - - microcephaly primary microcephaly; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal - WDR62 1 1 Johan den Dunnen
00433366 Pat35 PubMed: Duerinckx 2021 patient M no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal - WDR62 1 1 Johan den Dunnen
00433367 Pat36 PubMed: Duerinckx 2021 patient M no Belgium - - - - - microcephaly severe primary microcephaly, hearing deficiency; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal - WDR62 2 1 Johan den Dunnen
00433368 Pan14;Pat37 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, 2 affected sisters F no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern - WDR62 2 2 Johan den Dunnen
00433369 PatPC12;Pat38 PubMed: Nicolas 2010, PubMed: Duerinckx 2021 patient F yes Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly - WDR62 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 ASPM ASPM 1 2 Johan den Dunnen
00433499 patient PubMed: Al-Gazali 2010 - - - United Arab Emirates - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433500 patient PubMed: Al-Gazali 2010 - - - United Arab Emirates - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433501 FamM-8900187 PubMed: Papari 2013 6-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives F;M yes Iran - - - - - microcephaly microcephaly, mild intellectual disability STIL STIL 1 7 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 ASPM ASPM 1 1 Johan den Dunnen
00433503 FamAPatIV3 PubMed: Khan 2017 4-generation family, 1 affected, unaffected heterozygous parents M yes Qatar - - - - - microcephaly - - ASPM 1 1 Johan den Dunnen
00433504 FamB PubMed: Khan 2017 5-generation family, 4 affected, (4M) unaffected heterozygous parents/relatives M yes Qatar - - - - - microcephaly - - ASPM 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 - ASPM ASPM 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 - - ASPM 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 ASPM ASPM 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 ASPM ASPM 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 - ASPM 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 - ASPM 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 - ASPM ASPM 1 4 Johan den Dunnen
00433513 Fam2 PubMed: Bond 2002 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433514 Fam3 PubMed: Bond 2002 - - yes Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433515 Fam4 PubMed: Bond 2002 - - yes Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433516 Fam1 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433517 Fam2 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433518 Fam3 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433519 Fam4 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433520 Fam5 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433521 Fam6 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433522 Fam7 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433523 Fam8 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433524 Fam9 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433525 Fam10 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433526 Fam11 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433527 Fam12 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433528 Fam13 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433529 Fam14 PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly microcephaly, severe intellectual disability ASPM ASPM 1 1 Johan den Dunnen
00433530 Fam15 PubMed: Bond 2003 - - - Netherlands - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433531 Fam16 PubMed: Bond 2003 - - - Jordan - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433532 Fam17 PubMed: Bond 2003 - - - Saudi Arabia - - - - - microcephaly see paper ASPM ASPM 1 1 Johan den Dunnen
00433533 Fam18 PubMed: Bond 2003 - - - - Yemenite - - - - microcephaly microcephaly, severe intellectual disability ASPM ASPM 1 1 Johan den Dunnen
00433534 Fam19 PubMed: Bond 2003 - - - - Yemenite - - - - microcephaly microcephaly, severe intellectual disability ASPM ASPM 1 1 Johan den Dunnen
00433535 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 3 Johan den Dunnen
00433536 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433537 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 3 Johan den Dunnen
00433538 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433539 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 1 Johan den Dunnen
00433540 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 2 Johan den Dunnen
00433541 - PubMed: Bond 2003 - - - Pakistan - - - - - microcephaly - ASPM ASPM 1 4 Johan den Dunnen
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