All individuals with variants in gene KMT2A

142 entries on 2 pages. Showing entries 1 - 100.
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00050376 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? epicanthus, prominent nasal bridge, global developmental delay, delayed speech and language development 1 1 Johan den Dunnen
00050463 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? autism, intellectual disability, behavioural/psychiatric abnormality, prominent nose, patent ductus arteriosus, arnold-chiari type i malformation 1 1 Johan den Dunnen
00050630 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, proportionate short stature, highly arched eyebrow, high anterior hairline, high forehead, short neck, high-arched palate, clinodactyly of the 5th finger, sandal gap, 2-3 toe syndactyly 1 1 Johan den Dunnen
00050660 - PubMed: DDDS 2015, Journal: DDDS 2015,PubMed: Faundes 2018 affected, unknown family members M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, microcephaly, clinodactyly of the 5th finger, short nose 1 1 Johan den Dunnen
00050686 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, abnormal facial shape, mild short stature, abnormality of the cardiac septa 1 1 Johan den Dunnen
00056281 - PubMed: Jones 2012 - M - (United Kingdom (Great Britain)) - - - - - WDSTS Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Broad first digits Slim and muscular build Rib anomalies Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Aggressive behavior Poor sleep Short stature Postnatal growth retardation 1 1 Guorui Hu
00056283 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Eyebrow lateral flare Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Poor sleep Short stature Postnatal growth retardation Intrauterine growth retardation Microcephaly 1 1 Guorui Hu
00056284 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation 1 1 Guorui Hu
00056286 - PubMed: Jones WD. 2012 - M - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Broad first digits Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Rib anomalies Constipation Feeding difficulties Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation Microcephaly 1 1 Guorui Hu
00056289 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Tapering fingers Scoliosis Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Patent ductus arteriosus Short stature 1 1 Guorui Hu
00056290 - PubMed: Strom 2014 - F - Mexico - - - - - WDSTS Thick hair Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Strabismus Wide nasal bridge Depressed nasal bridge Bulbous nose Upper vermillion border, thin Abnormal dentition Tapering fingers Clinodactyly Sacral dimple Feeding difficulties Developmental delay Intellectual disability Hypotonia Urinary tract infections Short stature Postnatal growth retardation Microcephaly 1 1 Guorui Hu
00056291 - PubMed: Strom 2014 Caucasian (maternal) and Mexican (paternal) ancestry M - Mexico Mexican;white - - - - WDSTS Thick hair Prominent forehead Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Microphthalmia Wide nasal bridge Micrognathia Broad first digits Tapering fingers 3–4 partial left-hand syndactyly 2-3 toe syndactyly Sacral dimple Small hands and feet pectus excavatum Wide anterior fontanelle Hypertrichosis, back Low hair line Developmental delay Hypotonia Short stature Postnatal growth retardation Intrauterine growth retardation 1 1 Guorui Hu
00056292 - PubMed: Mendelsohn 2014 - F - United States Hispanic - - - - WDSTS Thick hair Prominent forehead Thick eyebrows Long eyelashes Ptosis Hypertelorism Slightly low hanging columella Small ears Abnormal dentition Micrognathia Short fifth finger Mild fifth finger brachyclinodactyly Rib anomalies Congenital hip dysplasia Doughy and redundant skin on her hands Advanced Bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis, back Low hair line Developmental delay Intellectual disability Hypotonia CNS malformation Cardiac anomaly Normal TSH, T4, GH, IGF-1, IGFBP3, 17OHP, LH, E2 and T levels Ureterocele Urinary tract infections Grade IV vesicoureteral reflux and a left ureterocele Short stature 1 1 Guorui Hu
00056297 - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - ?, WDSTS 46,XY sexual development (DSD), complete gonadal dysgenes, Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels 1 2 Guorui Hu
00056298 - PubMed: Dunkerton 2015 monozygotic twin pair F - Australia - - - - - WDSTS Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Patent ductus arteriosus Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys 1 2 Guorui Hu
00056300 - PubMed: Dunkerton 2015 monozygotic twin pair F - Australia - - - - - WDSTS Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Synophrys Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Bulbous nose Small ears Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Normal bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys 1 1 Guorui Hu
00056303 - PubMed: Miyake 2015 - M - Japan - - - - - WDSTS Intrauterine growth retardation Short stature Normal head circumference Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Ptosis Epicanthus Ectropion of lateral third of lower eyelid Strabismus Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate  Abnormal dentition Hypodontia Micrognathia Broad first digits Short fifth finger Clinodactyly Contracture of the distal interphalangeal joint Hypertrichosis Hypertrichosis, back Hypertrichosis, lower limbs Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Cardiac anomaly 1 1 Guorui Hu
00056305 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS Intrauterine growth retardation Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin High-arched palate  Clinodactyly Sacral dimple Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Developmental delay Intellectual disability Poor sleep 1 1 Guorui Hu
00056306 - PubMed: Miyake 2015 - M - Australia - - - - - WDSTS Microcephaly Short stature Intrauterine growth retardation Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin Abnormal dentition Tapering fingers 2-3 toe syndactyly Clinodactyly Contracture of the distal interphalangeal joint Slim and muscular build Puffy hand and foot Joint laxity Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Poor sleep 1 1 Guorui Hu
00056307 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Ptosis Hypertelorism Deafness Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Tapering fingers Short fifth finger Sacral dimple Puffy hand and foot Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Low hair line Developmental delay Intellectual disability 1 1 Guorui Hu
00056308 - PubMed: Miyake 2015 - M - Japan - - - - - WDSTS Normal head circumference Short stature Thick hair Eyebrow lateral flare Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus Ectropion of lateral third of lower eyelid Strabismus Wide nasal bridge Depressed nasal tip Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Broad first digits Clinodactyly Long hallux Small hands Puffy hands Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Prominent digit pads Developmental delay Intellectual disability Hyperactivity CNS malformation 1 1 Guorui Hu
00056309 - PubMed: Yuan 2015 - F - Turkey - - - - - WDSTS original diagnosis CDLS; intrauterine growth retardation Microcephaly Short stature Thick hair Synophrys Arched eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Epicanthus Strabismus Low nasal bridge Dysmorphic ears Upper vermillion border, thin High-arched palate  Long philtrum Widely spaced teeth Downturned corners of the mouth Micrognathia Brachydactyly Clinodactyly Hypertrichosis Low hair line Intellectual disability Normal behavioral problems Patent ductus arteriosus 1 1 Guorui Hu
00056380 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS initially diagnosed atypical Kabuki syndrome, unavailable for evaluation 1 1 Johan den Dunnen
00064037 - - - M no China Han Chinese - - - - WDSTS - 1 1 Guorui Hu
00064038 - - - M no China Han Chinese - - - - WDSTS - 1 1 Guorui Hu
00079629 - PubMed: Stellacci 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Italy Italian - - - - WDSTS Short stature; Microcephaly; Eyebrow, lateral flare -; Hypertelorism; Downslanted palpebral fissures; Vertically narrow palpebra fissures -; Wide nasal bridge; Broad nasal tip -; Long philtrum -; Thin upper lip; Low-set ears -; Strabismus; Dolichocilia; Thick hair; thick eyebrows; Abnormal dentition; High palate -; Micrognathia -; hypotonia; Advanced bone age -; Small hands and feet; Fleshy hands/feet -; Clinodactyly -; Congenital hip dysplasia; Hypertrichosis cubiti; Hypertrichosis, back; Hypertrichosis, lower limbs; Developmental delay; Intellectual disability; Autism -; Aggressive behavior; Seizure; Hyperactivity -; Cardiovascular anomalies -; Kidney/ureter malformation -; Feeding difficulties; Nasogastric and percutaneous endoscopic gastrostomy feeding; Intestine anomalies; Immunodeficiency; Urinary trait infection; Respiratory trait infection -; Otitis media -; Cryptorchidism; Constipation; Poor sleep; Bulbous nose; Depressed nasal bridge; 1 1 Guorui Hu
00079630 - PubMed: Steel 2015 2-generation family, 1 affected, unaffected non-carrier parents F yes United Arab Emirates Arabian - - - - WDSTS short stature; Slim and muscular build; microcephaly; Thick eyebrows -; Ptosis; Hypertelorism; Epicanthus; Microphthalmia -; Strabismus; Micrognathia -; Deep set ears; Prominent ear -; Auricular deformity -; Hearing loss -; normal hands and feet; pectus excavatum; Hypertrichosis, cubiti -; Hypertrichosis, back; Hypertrichosis, lower limbs -; Developmental delay; Intellectual disability; Hypotonia; Poor sleep; Feeding difficulties -; Cardiac anomaly -; 1 1 Guorui Hu
00079631 - PubMed: Zemojtel 2014 - F ? - - - - - - WDSTS short stature； microcephaly； Hypertelorism； flat nose; Thin lips; short neck; full cheeks; Sacral dimple; Developmental delay; Intellectual disability; Feeding difficulties; megaloureter; abnormal midface; cone-shaped epiphysis of the phalanges of the hand; HP:0007441; 1 1 Guorui Hu
00079632 - PubMed: Zemojtel 2014 - M - - - - - - - WDSTS HP:0000256; HP:0000750; HP:0001263; HP:0000581; HP:0001488; HP:0011039; HP:0010532; Inappropriate sexual behavior; 1 1 Guorui Hu
00080873 Ind081;Pat3 PubMed: Trujillano 2017, PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 unaffected non-carrier parents M - - - - - - - WDSTS see paper; ... 1 1 Daniel Trujillano
00080907 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - WDSTS Wiedemann-Steiner syndrome (OMIM:605130) 1 1 Daniel Trujillano
00081016 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - WDSTS Wiedemann-Steiner syndrome (OMIM:605130) 1 1 Daniel Trujillano
00089138 - - - M no - - - - - - WDSTS - 1 1 Anjali Aggarwal
00105338 Patient 1 - - M no France - - - - - ID facial dysmorphy with falt face, narrow palpebral fissures, thick eyebrows, hypertelorism, strabismus, dysplastic ears, and hypertrichosis, and clinodactyly; severe intellectual disability (HP:0010864); moderate global developmental delay (HP:0011343); no speech (HP:0001344) 1 1 Thierry Bienvenu
00105339 Patient 2 - - M no France - - - - - ID facial dysmorphy with fat face, narrow palpebral fissures, hypertelorism, dysplatic ears, everted low lip, and hypertrichosis; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); poor speech (HP:0002465) 1 1 Thierry Bienvenu
00105340 - Patient 3 - M no France - - - - - ID facial dysmorphy and hypertrichosis; severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342); no speech (HP:0001344) 1 1 Thierry Bienvenu
00105341 Patient 4 - - F no France - - - - - ID facial dysmorphy, hypermetropia, thick gums, hypertrichosis; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); no speech (HP:0001344) 1 1 Thierry Bienvenu
00105412 RTT4662 - - F no France - - - - - ID - 1 1 Thierry Bienvenu
00105413 RTT4575 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105414 - RTT4399 - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105415 RTT4581 - - F - France - - - - - ID - 1 1 Thierry Bienvenu
00105416 16DI000153 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105417 RTT4306 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105418 RTT3997 - - F no France - - - - - ID - 1 1 Thierry Bienvenu
00105419 RTT4079 - - F - France - - - - - ID - 1 1 Thierry Bienvenu
00105420 RTT4048 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105421 RTT4482 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105422 16DI00285 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00105423 16DI00056 - - M no France - - - - - ID - 1 1 Thierry Bienvenu
00111395 S_129 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - WDSTS Moderate ID, hypertelorism 1 1 Bernt Popp
00154953 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Short stature (HP:0004322); Microcephaly (HP:0000252); Renal agenesis (HP:0000104) 1 1 IMGAG
00154966 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250); Blindness (HP:0000618) 1 1 IMGAG
00165103 - - - F no France white 10y - - - ID hypotonia, microcephaly, plagiocephaly, facial dysmorphy with hypertelorism, blepharophimosis, scoliosis and hypertrichosis; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); speech delay (HP:0000750) 1 1 Thierry Bienvenu
00183670 27620904-Pat15 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00183681 27620904-Pat26 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00207351 - - - M - Italy - - - - - WDSTS - 1 1 Cristina Gervasini
00207871 28623346-Fam1PatII2/3 PubMed: Bogaert 2017 2-generation family, affected twin pair/mother F;M no Belgium - - - - - ? - 1 3 Johan den Dunnen
00211186 183121 - - M no China African 07y - - - WDSTS small palpebral fissures, ptosis, telecanthus, and epicanthus inversus ,thick eyebrows、hair and long philtrum、strabismus and amblyopia,low hairline,narrow high palate, abnormal and low-set ears, hypertrichosis back. 1 1 Jinxiu Liu
00273166 - - - M ? Saudi Arabia Arab - - - - ADHD - 1 1 Nada Al Tassan
00275545 - PubMed: Di Fede 2021 - M - - - - - - - ? - 1 1 Cristina Gervasini
00275547 - PubMed: Di Fede 2021 - F - - - - - - - ? - 1 1 Cristina Gervasini
00275548 - PubMed: Di Fede 2021 - M - Italy - - - - - ? - 1 1 Cristina Gervasini
00275549 - PubMed: Di Fede 2021 - F - Italy - - - - - ? - 1 1 Cristina Gervasini
00275550 - PubMed: Di Fede 2021 - M - Italy - - - - - ? - 1 1 Cristina Gervasini
00275551 - PubMed: Di Fede 2021 - M - - - - - - - ? - 1 1 Cristina Gervasini
00275694 Pat1 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F no Italy white - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276049 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Short stature (HP:0004322); Microcephaly (HP:0000252); Hypertrichosis (HP:0000998) 1 1 IMGAG
00276273 Pat2 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276274 Pat5 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276275 Pat6 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276276 Pat7 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276277 Pat9 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276278 Pat11 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276279 Pat8 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 This is NOT the individual described as Patient n.1 in Lebrun N. et al., 2018, Eur J Hum Genet 26(1). M - (Netherlands) - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00276280 Pat4 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... 1 1 Stefano Giuseppe Caraffi
00288195 Pat5 PubMed: Lee 2019 - - - United States - - - - - ? failure to thrive, microphthalmos, high palate, hypoplasia of midface, trigonocephaly, ankyloglossia, hypertelorism, ptosis, amblyopia, low-set ears, microtia, hirsutism, sacral dimple, accelerated skeletal maturation, clinodactyly, bowel incontinence, developmental delay, delayed speech and language development, hypotonia, encephalopathy, oral aversion, impaired social interactions, frontal bossing, protuberant abdomen, wide intermamillary distance 1 1 Johan den Dunnen
00290255 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00295916 - - - M - - - - - - - ? Hip dysplasia (HP:0001385); Microcephaly (HP:0000252); Neurogenic bladder (HP:0000011); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00301403 - - - F - Germany - - - - - ? Scoliosis (HP:0002650); Neurodevelopmental delay (HP:0012758); Flexion contracture (HP:0001371); Limb joint contracture (HP:0003121); Delayed speech and language development (HP:0000750) 1 1 Andreas Laner
00303011 Pat56 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00303012 Pat57 PubMed: Helbig 2016 - - - United States - - - - - seizures epileptic encephalopathy, ESES, complex partial seizures; age onset childhood 1 1 Johan den Dunnen
00303013 Pat58 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00303090 patient PubMed: Brassesco 2018 - - - Brazil - - - - - ALL 7m-vomiting, bruising, pallor 3 1 Johan den Dunnen
00303963 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Short stature (HP:0004322) 1 1 IMGAG
00306251 - - - M - - - - - - - ? Ptosis (HP:0000508); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Short stature (HP:0004322); Epicanthus (HP:0000286); Motor delay (HP:0001270) 1 1 IMGAG
00307686 - - - M - - - - - - - ? Hyperactivity (HP:0000752); Mild global developmental delay (HP:0011342) 1 1 Andreas Laner
00311456 269326 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311457 267484 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311458 271660 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311459 264200 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311460 269183 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311461 270903 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311462 265963 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311463 264500 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311464 264154 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311465 273049 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311466 271611 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311467 259227 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311468 259427 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311469 264841 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
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