Disease #04576 (NEDMISBA;MCPH15 (neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalitie (MCPH15)), OMIM:616486)

Official abbreviation NEDMISBA;MCPH15
Name neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalitie (MCPH15)
OMIM ID 616486
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene MFSD2A
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-17 19:31:53 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00276067 FamAPat1 PubMed: Scala 2020 2-generation family, 1 affected F yes Iran - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 28 cm (-4.6 SDS), OFC 41 cm (-5.6 SDS); global developmental delay; not sitting; not walking; no speech; no behavioral abnormalities; appendicular spasticity; axial hypotonia; seizures; dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia MFSD2A MFSD2A 1 1 Marcello Scala
00276070 FamBPat2 PubMed: Scala 2020 2-generation family, 2 affected brothers M yes Iran - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 27 cm (-3.9 SDS), OFC 37 cm (-8.8 SDS); global developmental delay; not sitting; not walking; severely delayed speech; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; no dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia MFSD2A MFSD2A 1 2 Marcello Scala
00276071 FamCPat3 PubMed: Scala 2020 2-generation family, 4 affected sibs (2F, 2M) F yes Pakistan - - - - - NEDMISBA;MCPH15 no premature death; OFC 49 cm (-5.0 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia MFSD2A MFSD2A 1 4 Marcello Scala
00276074 FamDPat5 PubMed: Scala 2020 2-generation family, 1 affected M no Russia - - - - - NEDMISBA;MCPH15 no premature death; OFC 46 cm (-3.6 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; no appendicular spasticity; axial hypotonia; seizures; dysphagia; no skeletal abnormalities; MRI mild WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia MFSD2A MFSD2A 2 1 Marcello Scala
00276075 FamEPat6 PubMed: Scala 2020 2-generation family, 2 affected sibs (F, M) F yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 28.5 cm (-3.6 SDS); global developmental delay; not sitting; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; no skeletal abnormalities; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia MFSD2A MFSD2A 1 1 Marcello Scala
00276076 FamFPat7 PubMed: Scala 2020 2-generation family, 1 affected M yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 25.5 cm (-6 SDS), OFC 36 cm (-8.9 SDS); global developmental delay; not sitting; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia MFSD2A MFSD2A 1 1 Marcello Scala
00276077 FamGPat8 PubMed: Scala 2020 2-generation family, 1 affected F yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 30.5 cm (-2.4 SDS), OFC 36 cm (-3.9 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus, bilateral developmental dysplasia hip; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia MFSD2A MFSD2A 1 1 Marcello Scala
00396960 FamCPat4 PubMed: Scala 2020 FamCPat4 F yes Pakistan - - - - - NEDMISBA;MCPH15 no premature death; OFC 47 cm (-6.9 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia MFSD2A MFSD2A 1 1 Johan den Dunnen
00396961 family PubMed: Harel 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Morocco Jewish - - - - NEDMISBA;MCPH15 no premature death; OFC birth mean -2.5 SDS, OFC mean -3.25 SDS; global developmental delay (2/2); sit (2/2); not walking; severely delayed speech (2/2); intellectual disability (2/2); no behavioral abnormalities; appendicular spasticity, dystonia (2/2); axial hypotonia (2/2); no seizures; no dysphagia; no skeletal abnormalities; MRI WM thinning with ventricular dilatation (2/2) - MFSD2A 1 2 Johan den Dunnen
00396963 Fam1422 PubMed: Guemez-Gamboa 2015 4-generation family, 2 affected, sisters unaffected heterozygous carrier parents F yes Libya - - - - - NEDMISBA;MCPH15 see peper; ... - MFSD2A 1 2 Johan den Dunnen
00396964 Fam1825 PubMed: Guemez-Gamboa 2015 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Egypt - - - - - NEDMISBA;MCPH15 see paper; ... - MFSD2A 1 2 Johan den Dunnen
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