All individuals with variants in gene FOXG1

137 entries on 2 pages. Showing entries 1 - 100.
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00000239 - PubMed: Van der Aa 2011 Not Rett synd. - early-onset encephalopathy F - - - - - - - DEE2 - 1 1 RettBASE
00000240 - PubMed: Van der Aa 2011 - M - - - - - - - Healthy/Control - 1 1 RettBASE
00000241 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - 1 1 RettBASE
00000242 - PubMed: Le Guen 2011 - M - - - - - - - Rett syndrome - 1 1 RettBASE
00000243 - PubMed: Kortum 2011 (Das) - M - - - - - - - Healthy/Control - 1 1 RettBASE
00000244 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - 1 1 RettBASE
00000245 - PubMed: Le Guen 2011 Not Rett synd. - severe microcephaly F - - - - - - - - - 1 1 RettBASE
00000246 - PubMed: Le Guen 2011 - M - - - - - - - Healthy/Control - 1 1 RettBASE
00000247 - PubMed: Bahi-Buisson 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000248 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - 1 1 RettBASE
00000249 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - 1 1 RettBASE
00000250 - PubMed: Van der Aa 2011 Rett syndrome - classical F - - - - - - - RTT - 1 1 RettBASE
00000251 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - 1 1 RettBASE
00000252 - PubMed: Kortum 2011 (Das) - M - - - - - - - Healthy/Control - 1 1 RettBASE
00000253 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000254 - PubMed: Kortum 2011 (Das) - F - - - - - - - Healthy/Control - 2 1 RettBASE
00000255 - PubMed: Van der Aa 2011 - M - - - - - - - Rett syndrome - 1 1 RettBASE
00000256 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000257 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000258 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000259 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - 1 1 RettBASE
00000260 - PubMed: Le Guen 2011 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00000261 - PubMed: Kortum 2011 (Das) - F - - - - - - - Healthy/Control - 1 1 RettBASE
00000262 - PubMed: Kortum 2011 (Das) - F - - - - - - - Healthy/Control - 1 1 RettBASE
00000263 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - 1 1 RettBASE
00000264 Case 1 PubMed: Ariani 2008 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - RTT see paper; ... 1 1 Johan den Dunnen
00000265 Pat1 PubMed: Philippe 2010 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - RTT see paper; ..., severe RTT-like neurodevelopmental disorder 1 1 Johan den Dunnen
00000266 Case 2 PubMed: Ariani 2008 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - RTT see paper; ... 1 1 Johan den Dunnen
00000267 Pat2 PubMed: Philippe 2010 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - RTT see paper; ..., classical clinical RTT presentation. 1 1 Johan den Dunnen
00000268 - PubMed: Bahi-Buisson 2010 - F - - - - - - - Rett syndrome - 1 1 RettBASE
00035861 - - - - - Germany - - - - - ? epilepsy, severe retardation 1 1 Andreas Laner
00035862 - - - - - Germany - - - - - ? epilepsy, severe mental retardation 1 1 Andreas Laner
00035863 - - - - - Germany - - - - - ? mental retardation since delivery, BNS-epilepsy since the second year of life, hypotonia 1 1 Andreas Laner
00035864 - - - - - Germany - - - - - ? congenital Rett syndrome 1 1 Andreas Laner
00035865 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035866 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035867 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035868 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035869 - - - - - Germany - - - - - ? severe global developmental delay, BNS-Epilepsie, status post West syndrome 1 1 Andreas Laner
00035870 - - - - - Germany - - - - - ? epilepsy syndrom,hypotonia since the first year of life, since the fifth month of life therapy-resistant West-Syndrom 1 1 Andreas Laner
00081041 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - Rett syndrome Rett syndrome, congenital variant (OMIM:613454) 1 1 Daniel Trujillano
00144429 - - - F - (Germany) - - - - - ? Encephalopathy (HP:0001298); Epileptic encephalopathy (HP:0200134); Postnatal microcephaly (HP:0005484); Global developmental delay (HP:0001263) 1 1 IMGAG
00144511 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 1 1 IMGAG
00181081 - - - M - - - - - - - DD HP:0000252 HP:0001263 1 1 Anaïs Begemann
00207984 - - - M - Germany - - - - - - HP:0100660 (Dyskinesia); HP:0000252 (Microcephaly); HP:0008936 (Muscular hypotonia of the trunk); HP:0001382 (Joint hypermobility); HP:0002307 (Drooling); HP:0012758 (Neurodevelopmental delay); HP:0001344 (Absent speech); HP:0001250 (Seizures); HP:0002133 (Status epilepticus); HP:0002305 (Athetosis); HP:0002487 (Hyperkinesis); HP:0002650 (Scoliosis) 1 1 Andreas Laner
00208546 - - - F - Germany - - - - - - HP:0012638 (Abnormality of nervous system physiology); HP:0002376 (Developmental regression) 1 1 Andreas Laner
00229650 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 1 1 IMGAG
00250299 - - - M no Italy - - - - - RTT - 1 1 Alessandra Renieri
00260914 Fam1Pat1 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, dyskinesia, cMRI: corpus callosum anomaly; not walking; functional hand use; 26m-started expressive speech, 6 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260915 Fam2Pat2 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, epilepsy, cMRI: simplified gyral pattern, delay of myelinisation; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; strabism; no nystagmus; no abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 21m-onset epileptic seizures; seizures; focal, generalised tonic-clonic seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260916 Fam3Pat3 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, hypotonia, epilepsy; 24m-assisted sitting; not walking; no functional hand use; 21m-started expressive speech, 4 words; no stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; no eye contact; unexplained episodes of crying; 24m-onset epileptic seizures; seizures; infantile spasms, generalized tonic seizures, generalized tonic-clonic activity, febrile seizures; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260917 Fam4Pat4 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, hypotonia, cMRI: pachygyria, corpus callosum anomaly; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; good eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260918 Fam5Pat5 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, hypotonia, cMRI: pachygyria; 24m-assisted sitting; 60m-walking; assisted walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 55m-onset epileptic seizures; seizures; antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260919 Fam6Pat6 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, epilepsy, strabism, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; 54m-started expressive speech, 4 words; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; no eye contact; unexplained episodes of crying; 6m-onset epileptic seizures; seizures; focal-tonic, tonic-clonic generalised seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; abnormal breathing patterns; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260920 Fam7Pat7 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, hypotonia, stereotypic movements, epilepsy; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; hypotonia; spasticity; strabism; no nystagmus; unexplained episodes of crying; 11m-onset epileptic seizures; seizures; myoclonic seizures; low antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; constipation; abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260921 Fam8Pat8 PubMed: Mitter 2018 - F - - - - - - - DD severe developmental delay, neonatal hypotonia, poor eye contact, impaired social interaction, microcephaly, cMRI: corpus callosum anomaly, septooptic dysplasia; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; seizures; antiepileptic treatment response; feeding difficulties; constipation; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260922 Fam9Pat9 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, cMRI: corpus callosum anomaly; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 11m-onset epileptic seizures; seizures; symptomatic epilepsy; good antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260923 Fam10Pat10 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, cMRI: simplified gyral pattern; not able to sit; not walking; no functional hand use; no speech; no stereotypic movements; hypotonia; strabism; no nystagmus; abnormal sleep patterns; good eye contact; no seizures; G-Tube feeding; gastroesophageal reflux; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260924 Fam11Pat11 PubMed: Mitter 2018 2-generation family, 2 affected sibs (F, M), unaffected parents M - - - - - - - DD developmental delay, hypotonia, strabism, epilepsy; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; 33m-started expressive speech, 100 words; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; no abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 24m-onset epileptic seizures; seizures; focal seizures; good antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies 1 2 Johan den Dunnen
00260925 Fam11Pat12 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, hypotonia; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; no speech; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 34m-onset epileptic seizures; seizures; febrile seizures; good antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis 1 1 Johan den Dunnen
00260926 Fam13Pat13 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, hypotonia, epilepsy, cMRI: delayed myelination; 24m-unassisted sitting; 72m-walking ; walking; functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; 5m-onset epileptic seizures; seizures; status epilepticus, febrile seizures; antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260927 Fam14Pat14 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, regression, epilepsy; 9m-unassisted sitting; 42m-walking; walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; no eye contact; no unexplained episodes of crying; 72m-onset epileptic seizures; seizures; tonic-myoclonic, tonic-clonic seizures; low antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260928 Fam15Pat15 PubMed: Mitter 2018 - M - - - - - - - DD profound developmental delay, epilepsy, cleft palate, cMRI: corpus callosum anomalie; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic clonic seizures, absence, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; no gastroesophageal reflux; aspiration; constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260929 Fam16Pat16 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, hypotonia, infantile spasms, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; no strabism; abnormal sleep patterns; good social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic seizures, myoclonic, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; aspiration; constipation; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260930 Fam17Pat17 PubMed: Mitter 2018 2-generation family, 2 affected identical twin sisters, unaffected parents F - - - - - - - DD developmental delay, microcephaly; 30m-unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; no constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 2 Johan den Dunnen
00260931 Fam17Pat18 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly; 30m-unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; no constipation; no hypersalivation; bruxism; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260932 Fam19Pat19 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, regression, microcephaly, epilepsy, hypotonia, sleep disorder, dystrophy, cMRI: corpus callosum anomaly, delayed myelination; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; abnormal sleep patterns; good social interaction; good eye contact; 36m-onset epileptic seizures; seizures; generalized seizures; feeding difficulties; constipation; hypersalivation; abnormal breathing patterns; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260933 Fam20Pat20 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly; 56m-unassisted sitting; assisted walking; no functional hand use; 84m-started expressive speech, 20 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; no seizures; no feeding difficulties; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260934 Fam21Pat21 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; poor eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260935 Fam22Pat22 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, dystrophy, microcephaly, epilepsy, hypotonia, spasticity, stereotypic movements: washing hands; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; no abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; 24m-onset epileptic seizures; seizures; tonic febrile seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260936 Fam23Pat23 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, facial dysmorphism; 15m-unassisted sitting; 24m-walking; assisted walking; no functional hand use; 26m-started expressive speech, 5 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; feeding difficulties; gastroesophageal reflux; aspiration; no constipation; hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis 1 1 Johan den Dunnen
00260937 Fam24Pat24 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, failure to thrive, cMRI: delayed myelination; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; no abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; G-Tube feeding; gastroesophageal reflux; aspiration; no constipation; no hypersalivation; no bruxism; abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260938 Fam25Pat25 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, hypotonia, facial dysmorphism; 24m-unassisted sitting; 48m-walking; assisted walking; functional hand use; 42m-started expressive speech, 20 words; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; abnormal sleep patterns; good social interaction; good eye contact; no seizures; no feeding difficulties; gastroesophageal reflux; aspiration; constipation; cortical anomalies 1 1 Johan den Dunnen
00260939 Fam26Pat26 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, epilepsy, hypotonia; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; abnormal sleep patterns; good social interaction; 8m-onset epileptic seizures; seizures; complex partial seizures; good antiepileptic treatment response; no feeding difficulties; gastroesophageal reflux; constipation; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00260940 Fam27Pat27 PubMed: Mitter 2018 - F - - - - - - - DD epileptic encephalopathy, developmental delay, regression; 11m-unassisted sitting; 11y-walking; walking; functional hand use; expressive speech 10 words; stereotypic movements; no dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; no feeding difficulties; no gastroesophageal reflux; no aspiration; constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260941 Fam28Pat28 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, spasticity, dyskinesia, stereotypic movements, cMRI: simplified gyral pattern; unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; spasticity; no nystagmus; abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; constipation; hypersalivation; bruxism; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260942 Fam29Pat29 PubMed: Mitter 2018 - F - - - - - - - DD developmental delay, microcephaly, hypotonia, dystrophy; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; no eye contact; no unexplained episodes of crying; 62m-onset epileptic seizures; seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies 1 1 Johan den Dunnen
00260943 Fam30Pat30 PubMed: Mitter 2018 - M - - - - - - - DD developmental delay, microcephaly, spasticity, dyskinesia; 12-unassisted sitting; 47m-walking; assisted walking; functional hand use; 24m-started expressive speech, 30 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies 1 1 Johan den Dunnen
00288326 2237/17 - - M no Switzerland - >05y - re - RTT Gastroesophageal reflux Constipation Intellectual disability, severe Poor eye contact Tongue thrusting 1 1 Ilaria Meloni
00288333 156 - - F no Italy white >33y - - - RTT Constipation Intellectual disability, severe Motor delay Seizures Dystonia Apraxia Poor eye contact Developmental regression Bruxism Drooling EEG abnormality 1 1 Ilaria Meloni
00291027 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291028 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295450 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00295940 - - - M - - - - - - - ? Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708) 1 1 Andreas Laner
00302773 893.339 PubMed: Hamdan 2015 - F - Canada - - - - - ID severe intellectual disability; no speech; not walking; intractable eplilepsy; no autistic features; primary microcephaly; no macrocephaly; MRI brain normal; spastic, choreoathetosis, dysmetria, hyperreflexic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; scolosis 1 1 Johan den Dunnen
00302882 Pat3 PubMed: Srivastava 2018 2-generation family, 2 affected, unaffected parents, patient has sister with similar phenotype and same variant M - United States - - - - - ID see paper; ..., intellectual disability, epilepsy, postnatal microcephaly, hand-wringing 1 1 Johan den Dunnen
00302993 Pat38 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile 1 1 Johan den Dunnen
00302994 Pat39 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00302995 Pat40 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00311193 - PubMed: Allou 2012 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311194 - PubMed: Allou 2012 - M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311195 - PubMed: Das 2014 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311196 - PubMed: De Bruyn 2014 - M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311197 - PubMed: De Filippis 2012 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311198 - PubMed: De Filippis 2012 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311199 - PubMed: Diebold 2014 - M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311200 - PubMed: Ellaway 2012 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311201 - PubMed: McMahon 2015 - M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311202 - PubMed: McMahon 2015 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00311203 - PubMed: McMahon 2015 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
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