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

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000210667 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 - NEDMISBA Familial, autosomal recessive 04y - - - - Marcello Scala 00276067
0000210668 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 - NEDMISBA Familial, autosomal recessive 04y - - - - Marcello Scala 00276070
0000210669 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 - NEDMISBA Familial, autosomal recessive 17y - - - - Marcello Scala 00276071
0000210670 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 - NEDMISBA Familial, autosomal recessive 05y - - - - Marcello Scala 00276074
0000210671 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 - NEDMISBA Familial, autosomal recessive 00y01m - - - - Marcello Scala 00276075
0000210673 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 - NEDMISBA Familial, autosomal recessive 02y - - - - Marcello Scala 00276076
0000210674 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 - - Familial, autosomal recessive 00y04m - - - - Marcello Scala 00276077
0000290115 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 - NEDMISBA Familial, autosomal recessive 27y - - - - Johan den Dunnen 00396960
0000290116 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) microcephaly, hypomyelination NEDMISBA Familial, autosomal recessive - - - - - Johan den Dunnen 00396961
0000290118 see peper; ... lethal microcephaly syndrome NEDMISBA Familial, autosomal recessive - - - - - Johan den Dunnen 00396963
0000290119 see paper; ... lethal microcephaly syndrome NEDMISBA Familial, autosomal recessive - - - - - Johan den Dunnen 00396964
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