All individuals with variants in gene DDX3X

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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00050372 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability severe, hyperactivity, ligamentous laxity, recurrent infections, poor motor coordination, sleep-wake cycle disturbance 1 1 Johan den Dunnen
00050383 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? ovarian cysts, global developmental delay 1 1 Johan den Dunnen
00050567 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? moderately short stature, microcephaly, specific learning disability 1 1 Johan den Dunnen
00050602 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? palmoplantar hyperkeratosis, global developmental delay, oral cleft, bilateral cleft lip and palate, ectopic anus, vesicoureteral reflux, conductive hearing impairment, sensorineural hearing impairment, joint hypermobility, nevus, linear nevus sebaceous, depigmentation/hyperpigmentation of skin 1 1 Johan den Dunnen
00103878 28327206-PatBH6062_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay, intellectual disability, microcephaly, cortical visual impairment, delayed myelination, short stature, hypotonia 1 1 Johan den Dunnen
00103879 28327206-PatBH5765_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay, intellectual disability, microcephaly, hypotonia, epidermolysis bullosa 1 1 Johan den Dunnen
00103903 28327206-PatBH5749_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay, intellectual disability, seizures, hypotonia, dysmorphic features, brain malformation 1 1 Johan den Dunnen
00151420 - - - F - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Gait ataxia (HP:0002066) 1 1 IMGAG
00164709 - - - F - (Germany) - - 0 - - ? Triangular face (HP:0000325); Global developmental delay (HP:0001263); Central hypotonia (HP:0011398); Stereotypy (HP:0000733) 1 1 IMGAG
00172396 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00219099 Patient 3 - - F - Italy white 13y 0 no - ID Short stature, intellectual disability, Strabismus, Cafe-au-lait spot, Atrial septal defect,Hypertonia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); no speech (HP:0001344) 1 1 Annalaura Torella
00219101 Patient 1 - - F no Italy white 18y 0 no - ID Intrauterine growth retardation, Thin vermilion border, Retrognathia, Broad philtrum, Smooth; philtrum, Short neck, Absent cupid's bow, Posterior plagiocephaly, Midface retrusion, Flat face,; Strabismus, Esotropia, Horizontal nystagmus, Low-set ears, Curly hair, Highly arched eyebrow,; Scoliosis, Spastic tetraparesis, Global developmental delay, Absent speech, Abnormality of the; corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal; ganglia, Abnormality of the cerebral white matter, Astrocytoma, Hypoplasia of the pons,; Hypoplastic anterior commissure.; global developmental delay (HP:0001263); no speech (HP:0001344) 1 1 Annalaura Torella
00219102 Patient 2 - - F no Italy white 14y 0 no - ID Intrauterine growth retardation, Increased nuchal translucency, Oligohydramnios,; Ventriculomegaly, Trigonocephaly, Hypotelorism, Nevus flammeus, Highly arched eyebrows,; Synophrys, Epicanthus, Strabismus, Low-set ears, Posteriorly rotated ears, Malar flattening,; Microretrognathia, Intellectual disability, Developmental delay, Bilateral sensorineural hearing; impairment, Muscular hypotonia, Feeding difficulties, Optic atrophy, Esotropia, EEG abnormality,; Microcephaly, Dysphagia, Dystonia, Absent speech, Abnormal cortical gyration, Abnormality of; the basal ganglia, Hypoplasia of the corpus callosum, Dysgenesis of the hippocampus, Abnormality; of the white matter, Hypoplastic anterior commissure, Hypoplasia of the pons, Cerebellar vermis; hypoplasia.; intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); no speech (HP:0001344) 1 1 Annalaura Torella
00219136 26235985-Ind1 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219137 26235985-Ind2 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219138 26235985-Ind7 PubMed: Snijders-Blok 2015 - F - - - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219139 26235985-Ind8 PubMed: Snijders-Blok 2015 - F - - - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) 1 1 Johan den Dunnen
00219140 DD15743 PubMed: Rauch 2012 - F - Germany - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219141 26235985-Ind10 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219142 26235985-Ind11 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219143 26235985-Ind12 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219144 26235985-Ind13 PubMed: Snijders-Blok 2015 - F - - - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) 1 1 Johan den Dunnen
00219145 26235985-Ind14 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219146 26235985-Ind15 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219147 26235985-Ind16 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219148 26235985-Ind17 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219149 26235985-Ind18 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219150 26235985-Ind19 PubMed: Snijders-Blok 2015 - F - - - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219151 26235985-Ind20 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219152 26235985-Ind21 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219153 26235985-Ind22 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219154 26235985-Ind23 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219155 26235985-Ind24 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219156 26235985-Ind25 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219157 26235985-Ind26 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219158 26235985-Ind27 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219159 26235985-Ind28 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) 1 1 Johan den Dunnen
00219160 26235985-Ind29 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219161 26235985-Ind30 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219162 26235985-Ind31 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219163 26235985-Ind32 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219164 26235985-Ind33 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219165 26235985-Ind34 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219166 26235985-Ind35 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219167 26235985-Ind36 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219168 26235985-Ind37 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) 1 1 Johan den Dunnen
00219169 26235985-Ind38 PubMed: Snijders-Blok 2015 - F - United Kingdom (Great Britain) - - 0 - - ID no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) 1 1 Johan den Dunnen
00219170 26235985-Fam1 PubMed: Snijders-Blok 2015 3-generation family, 6 affected (6M), unaffected heterozygous carrier female M - - - - 0 - - ID - 1 6 Johan den Dunnen
00219171 26235985-Fam2 PubMed: Hu 2016, PubMed: Snijders-Blok 2015 3-generation family, 2 affected (2M), unaffected heterozygous carrier female M - - - - 0 - - ID - 1 2 Johan den Dunnen
00219172 26235985-Fam3 PubMed: Snijders-Blok 2015 3-generation family, 2 affected, unaffected heterozygous carrier female M - - - - 0 - - ID severe ID, dysplastic pulmonary valve, hypertonia, strabismus, thickened nuchal fold, absent nasal bone; mother had recurrent miscarriages of unknown gender; viable pregnancy terminated for ultrasound anomalies (thickened nuchal fold, absent nasal bone); severe intellectual disability (HP:0010864) 1 2 Johan den Dunnen
00269898 - - - ? - - - - 0 - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Obesity (HP:0001513); Aggressive behavior (HP:0000718); Progressive hearing impairment (HP:0001730); Punctate periventricular T2 hyperintense foci (HP:0030081) 1 1 IMGAG
00276031 - - - F - - - - 0 - - ? Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00301079 - submitted - F no Japan - - - - - MRXSSB - 1 1 Tadashi Kaname
00302675 - - - F - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Strabismus (HP:0000486) 1 1 IMGAG
00302945 Pat1 PubMed: Fieremans 2016 - F - - - - 0 - - ID see paper; ..., severe intellectual disability, ataxic gait, cleft uvula, facial dysmorphism, vesicoureteric reflux 1 1 Johan den Dunnen
00302946 Pat2 PubMed: Fieremans 2016 - F - - - - 0 - - ID see paper; ..., mild/moderate intellectual disability, pre- and postnatal growth restriction, hirsutism, hypertelorism, facial features, hallux valgus with foot arches 1 1 Johan den Dunnen
00303953 Patient 1 PubMed: Nicola 2019 2-generation family, 1 affected, unaffected non-carrier parents M yes United Kingdom (Great Britain) White >09y 0 - - ID Autistic behavior (HP:0000729); Aortopulmonary window (HP:0011604); Secundum atrial septal defect (HP:0001684); Plagiocephaly (HP:0001357); Lambdoidal craniosynostosis (HP:0004443); Low columella (HP:0010763); Depressed nasal tip (HP:0000437); Seizure (HP:0001250); Otitis media (HP:0000388); Hypotonia (HP:0001252); Epidermoid cyst (HP:0200040); 1 1 Joaquin De La Torre Vela
00303954 Patient 2 PubMed: Nicola 2019 2-generation family, 1 affected, unaffected non-carrier parents M yes - White >08y 0 - - ID Pulmonary valve atresia (HP:0010882); Right bundle branch block (HP:0011712); Ventricular septal defect (HP:0001629); Patent foramen ovale (HP:0001655);Long eyebrows (HP:0004523); Thin vermilion border (HP:0000233); Cataract HP:0000518; Retinal detachment (HP:0000541); Hypermetropia (HP:0000540); Conductive hearing impairment (HP:0000405); 1 1 Joaquin De La Torre Vela
00303955 Patient 3 PubMed: Nicola 2019 2-generation family, 1 affected, unaffected non-carrier mother M yes United Kingdom (Great Britain) White >16y 0 - - ID Pulmonary artery stenosis (HP:0004415); Brachycephaly (HP:0000248); Broad face (HP:0000283); Thin upper lip vermilion (HP:0000219); Delayed puberty (HP:0000823); Obesity (HP:0001513); Muscular (hypotonia HP:0001252) 1 1 Joaquin De La Torre Vela
00303976 FamK1 PubMed: Kellaris 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no United States - >29y 0 - - ID Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly); Hand weakness (HP:0030237); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119) 1 2 Joaquin De La Torre Vela
00303977 FamK2 PubMed: Kellaris 2018 brother of K1 M no United States - >25y 0 - - ID Tremor (HP:0002322);Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly (HP:0002119); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119) 1 1 Joaquin De La Torre Vela
00306252 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Poor coordination (HP:0002370) 1 1 IMGAG
00309891 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Absent speech (HP:0001344); Gait ataxia (HP:0002066); Poor fine motor coordination (HP:0007010); Corpus callosum atrophy (HP:0007371); Brain atrophy (HP:0012444); Maintenance insomnia (HP:0031355); Diminished ability to concentrate (HP:0031987) 1 1 IMGAG
00320151 - - - F - - - - 0 - - ? Stereotypy (HP:0000733); Global developmental delay (HP:0001263); Absent speech (HP:0001344); Sleep terror (HP:0030765) 1 1 IMGAG
00320216 152769 - - F - Germany - - 0 - - MRXSSB (+) Narrow face,(+) Global developmental delay,(+) Abnormal facial shape,(+) Poor coordination,(+) Mild microcephaly; one-year-old female child, possibly Angelman syndrome, linguistically accentuated developmental delay, broad-based gait pattern, facial dysmorphia (long philtrum, anteverted nostrils, long narrow face), relative microcephaly 1 1 Andreas Laner
00334300 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334543 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00375518 179786 - - F ? Germany - - 0 - - AUTSX2 (+) Microcephaly,(+) Seizure,(+) Polymicrogyria,(+) Abnormal cortical gyration,(+) Aplasia/Hypoplasia of the cerebrum,(+) Abnormal nervous system physiology,(+) Decreased head circumference 1 1 Andreas Laner
00387704 M030 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - 0 - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00387860 M8900228 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
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