Disease #02784 (MCPH5 (microcephaly, type 5, autosomal recessive (MCPH-5)), OMIM:608716)

Official abbreviation MCPH5
Name microcephaly, type 5, autosomal recessive (MCPH-5)
OMIM ID 608716
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 26
Phenotype entries for this disease 25
Associated with 1 gene ASPM
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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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) - ASPM 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 - ASPM 2 1 Birgit Sikkema-Raddatz
00080943 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MCPH5 Microcephaly 5, primary, autosomal recessive (OMIM:608716) ASPM ASPM 1 1 Daniel Trujillano
00081001 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MCPH5 Microcephaly 5, primary, autosomal recessive (OMIM:608716) ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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) ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 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 ASPM ASPM 2 1 Nathalie Pouvreau
00207509 - PubMed: Abdel-Hamid 2016 - M - Egypt - - - - - MCPH5, XLI Also primary microcephaly-5 ASPM, STS STS 1 1 Michel van Geel
00465248 325729 - - M yes Somalia - - - - - MCPH5 Moderate to late preterm birth, Short chin, Small for gestational age, Microcephaly, Inguinal hernia, Abnormality of temperature regulation ASPM ASPM 1 1 Andreas Laner
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