Disease #00768 (MICPCH (mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH)), OMIM:300749)

Official abbreviation MICPCH
Name mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH)
OMIM ID 300749
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 32
Phenotype entries for this disease 32
Associated with 1 gene CASK
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-01-15 09:18:41 +01:00 (CET)


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00057257 - PubMed: Rump 2016 - F - - - - - - - MICPCH Microcephaly HP:0000252 - CASK 1 1 Birgit Sikkema-Raddatz
00111393 S_008 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - MICPCH Microcephaly, MRI: cerebellopontine hypoplasia, moderate to severe ID, muscular hypertonia, hearing loss CASK CASK 1 1 Bernt Popp
00163761 UZL6032 - - F - - European - - - - MICPCH - CASK CASK 1 1 Francesca Cristofoli
00163763 UZL4581 - - F - - European - - - - MICPCH - - CASK 1 1 Francesca Cristofoli
00275940 - - - M - - - 12y - - - MICPCH, MRXSBL;MRX60 pontocerebellar hypoplasia - CASK 1 1 Enza Maria Valente
00275942 CCM031 - - F - - - 01y06m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275943 CCM041 - - F - Romania - - - - - MICPCH - CASK CASK 1 1 Enza Maria Valente
00275944 CCM043 - - F - Italy - 05y07m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275945 CCM086 - - F - - - 15y06m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275946 CCM115 - - F - Italy - 26y04m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275947 CCM157 - - F - Italy - 05y - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275948 CCM195 - - M - Italy - 01y09m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275949 CCM239 - - F - - - 03y06m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275950 CCM395 - - M - Italy - 04y02m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275951 CCM249 - - F - Croatia (Hrvatska) - 00y04m - - - MICPCH - CASK CASK 1 1 Enza Maria Valente
00275952 CCM333 - - F - Italy - 04y02m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275953 CCM411 - - F - Morocco - 03y04m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275954 CCM529 - - F - Italy - 03y09m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275955 CCM530 - - F - Italy - 03y06m - - - MICPCH - CASK CASK 1 1 Enza Maria Valente
00275956 CCM433 - - F - Italy - 00y08m - - - MICPCH - CASK CASK 1 1 Enza Maria Valente
00275957 CCM457 - - F - Italy - 05y04m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275958 CCM509 - - F - Israel - 07y - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275959 CCM510 - - M - Albania - 03y04m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275960 CCM515 - - F - Italy - 05y02m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275961 CCM525 - - F - Serbia - 01y09m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275962 CCM532 - - F - - - - - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275963 CCM531 - - F - Italy - 07y05m - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275964 CCM533 - - F - Italy - 04y - - - MICPCH - - CASK 1 1 Enza Maria Valente
00275965 CCM568 - - F - Italy - 06y - - - MICPCH - - CASK 1 1 Enza Maria Valente
00411450 - Journal: Rodríguez-García 2022 - M no Spain white >10y - - - MICPCH HP:0001263 HP:0003502 HP:0000252 HP:0001272 HP:0006834 HP:0000496 HP:0002521 HP:0002540 HP:0001344 HP:0001252 HP:0001631 HP:0000648 - CASK, EEF2 2 1 Francisco Martínez-Azorín
00416850 19 PubMed: Rump 2016 - F - - - - - - - MICPCH brain magnetic resonance imaging: atrophy, mild enlarged ventricles on ct-scan; additional clinical featuresumbilical hernia, hip dysplasia, scoliosis, spasticity, feeding problems, severe intellectual disability, seizures, no speech, prominent upper incisors CASK CASK 1 1 LOVD
00455464 307639 - - F - Germany - - - - - MICPCH Microcephaly, Delayed cranial suture closure, Neurodevelopmental delay CASK CASK 1 1 Andreas Laner
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