All individuals with variants in gene AUTS2

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00016365 - - patient 1 (Gea Beunders, et al., 2014) M no Netherlands white >24y - - - ID low birth weight <p3 microcephaly <p2 feeding difficulties Neurodevelopmental disorders intellectual disability/ development delay autism/autistic behavior sound sensitivity hyperactivity/ ADHD ptosis prominent nasal tip short filtrum micrognatia 1 1 Gea Beunders
00016366 - - proband 2 in Beunders et al. 2014 M no Belgium white >20y - 20y - ID - 1 1 Gea Beunders
00017713 - PubMed: Beunders 2013 WTCCC2 birth cohort ? ? (United Kingdom (Great Britain)) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017714 - PubMed: Beunders 2013 WTCCC2 birth cohort ? ? (United Kingdom (Great Britain)) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017715 - PubMed: Beunders 2013 UK Blood Service collection ? ? (United Kingdom (Great Britain)) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017716 - PubMed: Beunders 2013 UK Blood Service collection ? ? (United Kingdom (Great Britain)) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017717 - PubMed: Beunders 2013 SAGE controls ? ? (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017718 - PubMed: Beunders 2013 SAGE controls ? ? (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017719 - PubMed: Beunders 2013 SAGE controls ? ? (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017720 - PubMed: Beunders 2013 Ottawa Heart Institute (OHI) controls ? ? (Canada) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00017721 - PubMed: Beunders 2013 Ottawa Heart Institute (OHI) controls ? ? (Canada) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00050545 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? plagiocephaly, global developmental delay, microcephaly, abnormality of the pinna, abnormality of the nasolacrimal system, abnormality of the palpebral fissures, facial asymmetry 1 1 Johan den Dunnen
00144509 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Tall stature (HP:0000098); Nasal speech (HP:0001611) 1 1 IMGAG
00294492 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294493 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 97 Mohammed Faruq
00294494 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 31 Mohammed Faruq
00296007 0708 - - M no Italy - 09y - - - NDD Global developmental delay, absent speech, craniofacial anomalies 1 1 Pietro Palumbo
00305168 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00331314 171071 - - M - Germany - - - - - MR;ID (+) Cryptorchidism,(+) Hypertelorism,(+) High forehead,(+) Downslanted palpebral fissures,(+) Delayed speech and language development,(+) Single transverse palmar crease,(+) Global developmental delay 1 1 Andreas Laner
00384514 RM-1003 PubMed: Sanchez-Jimeno 2021 - - - Spain - - - - - NDD no low birth weight; short stature; microcephaly; no feeding difficulties; global developmental delay/intellectual disability; autism spectrum disorders/autistic features; no sound sensitivity; hyperactivity/attention deficit/hyperactivity disorder; no generalized hypotonia; no structural brain anomaly; no cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; no patent foramen ovale/autism spectrum disorders; no highly arched eyebrows; no hypertelorism; no proptosis; no short palpebral fissures; no upslanting palpebral fissures; no ptosis; no epicanthal fold; no strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; 2 CAL spots 1 1 Alexander Groffen
00384515 RM-299 PubMed: Sanchez-Jimeno 2021 - - - Spain - - - - - NDD no low birth weight; no short stature; no microcephaly; no feeding difficulties; no global developmental delay/intellectual disability; autism spectrum disorders/autistic features; no sound sensitivity; hyperactivity/attention deficit/hyperactivity disorder; no generalized hypotonia; no structural brain anomaly; no cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; no patent foramen ovale/autism spectrum disorders; no highly arched eyebrows; no hypertelorism; no proptosis; no short palpebral fissures; no upslanting palpebral fissures; no ptosis; no epicanthal fold; no strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; oppositional defiant disorder, aggressiveness, tics;2 CAL spots 1 1 Alexander Groffen
00384516 RM-1935 PubMed: Sanchez-Jimeno 2021 - - - Spain - - - - - NDD no low birth weight; short stature; no microcephaly; feeding difficulties; global developmental delay/intellectual disability; generalized hypotonia; no structural brain anomaly; cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; patent foramen ovale; no highly arched eyebrows; no hypertelorism; no proptosis; short palpebral fissures; no upslanting palpebral fissures; no ptosis; no epicanthal fold; strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; narrow and downslanting palpebral fissures, short nose, dentition delay, hypermetropy, dysphagia, sleep disorder 1 1 Alexander Groffen
00384517 RM-1513 PubMed: Sanchez-Jimeno 2021 - - - Spain - - - - - NDD no low birth weight; no short stature; microcephaly; no feeding difficulties; global developmental delay/intellectual disability; autism spectrum disorders/autistic features; no sound sensitivity; hyperactivity/attention deficit/hyperactivity disorder; no generalized hypotonia; no structural brain anomaly; no cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; tight heel cords; no hernia umbilicalis; no patent foramen ovale/autism spectrum disorders; no highly arched eyebrows; no hypertelorism; no proptosis; no short palpebral fissures; no upslanting palpebral fissures; ptosis; no epicanthal fold; no strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; low-set ears; no earpit; no narrow mouth; dolicocephaly, peculiar helix, prognathism, clubfoot 1 1 Alexander Groffen
00384518 RM-519 PubMed: Sanchez-Jimeno 2021 - - - Spain - - - - - NDD no low birth weight; short stature; microcephaly; feeding difficulties; global developmental delay/intellectual disability; autism spectrum disorders/autistic features; sound sensitivity; hyperactivity/attention deficit/hyperactivity disorder; generalized hypotonia; no structural brain anomaly; no cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; no patent foramen ovale/autism spectrum disorders; highly arched eyebrows; no hypertelorism; no proptosis; no short palpebral fissures; no upslanting palpebral fissures; ptosis; no epicanthal fold; no strabismus; prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; 2 CAL spots 1 1 Alexander Groffen
00386912 trio 58 PubMed: McCarthy et al., 2014 - F - - - - - - - SCZD Delayed developmental milestones and had supported schooling for secondary education and received support for learning disability. Diagnosed with treatment-resistant schizophrenia following a prolonged episode of psychosis with persecutory delusions, auditory hallucinations, bizarre behavior and self-neglect. Failed to respond to therapeutic trials of at least 2 antipsychotic medications, but has made a good functional recovery with Clozapine. 1 1 Alexander Groffen
00386913 10 PubMed: Brunet et al., 2021 - F - - - - - - - NDD Neurodevelopmental disorder plus associated conditions 1 1 Alexander Groffen
00386920 1 PubMed: Stojanovic et al 2020 - M - Serbia - - - - - ID ID, abnormal facial shape, pes equinovarus, campodactyly. diaphragmatic hernia, ptosis 1 1 Alexander Groffen
00386921 DDD4K.00364 PubMed: Turner 2019 - M - - - - - - - NDD - 1 1 Alexander Groffen
00386922 DDD4K.02496 PubMed: Turner 2019 - F - - - - - - - NDD - 1 1 Alexander Groffen
00386924 DDD4K.02444 PubMed: Turner 2019 - F - - - - - - - NDD - 1 1 Alexander Groffen
00386929 UPN-1267 PubMed: Monies et al 2019 - F no Saudi Arabia - - - - - NDD Microcephaly, Intellectual disability, white matter changes and hypotonia 1 1 Alexander Groffen
00386930 UPN-1272 PubMed: Monies et al 2019 - M ? Saudi Arabia - - - - - NDD Fine/Gross motor delay, Speech delay, Intellectual disability, Autism spectrum disorder, Autistic features, ADHD 1 1 Alexander Groffen
00386931 - PubMed: Beunders 2013 - M - - - - - - - MRD26 mild intellectual disability 1 1 Alexander Groffen
00386932 FamAPatIII1(Pat19) PubMed: Chen 2017 family, proband and 2 affected sibs, unaffected parents M - Netherlands - - - - - SLI see paper; ..., all affected specific language impairment, special educational needs 1 1 Johan den Dunnen
00386933 - PubMed: Beunders 2013 - F - - - - - - - MRD26 Intellectual disability/developmental delay, structural brain anomaly, cerebral palsy/spasticity, white matter abnormalities, ptosis, strabismus 1 1 Alexander Groffen
00386934 - PubMed: Beunders 2013 - M - - - - - - - MRD26 low birth weight, short stature, microcephaly, intellectual disability / developmental delay, autistic behavior, strabismus 1 1 Alexander Groffen
00386936 - PubMed: Beunders 2013 - F - - - - - - - MRD26 microcephaly, intellectual disability / developmental delay, proptosis, short palpebral fissures, narrow mouth, plachiocephaly, brachycephaly, facial asymmetry, prominent forehead, unilateral cleft lip, patent foramen ovale / atrial septum defect 1 1 Alexander Groffen
00386937 - PubMed: Beunders 2013 - F - - - - - - - MRD26 microcephaly, feeding difficulties, intellectual disability / developmental delay, autism,generalized hypotonia, highly arched eyebrows, short palpebral fissures, epicathal fold, deep/broad nasal bridge, short/upturned philtrum, narrow mouth 1 1 Alexander Groffen
00386940 - PubMed: Beunders 2013 - F - - - - - - - MRD26 low birth weight, short stature, microcephaly, feeding difficulties, mild intellectual disability, highly arched eyebrows, hypertelorism, proptosis, short palpebral fissures, ptosis, strabismus, prominent nasal tip, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, low columella 1 1 Alexander Groffen
00387426 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, intellectual disability/developmental delay, hyperactivity/ADHD, cerebral palsy/spasticity, epicanthal fold, downslant, deep/broad nasal bridge, narrow mouth, tight heel cords 1 1 Alexander Groffen
00387432 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, intellectual disability/developmental delay, cerebral palsy/spasticity, hypertelorism, epicanthal fold, micro/retrognathia, low set ears, large hands and feet 1 1 Alexander Groffen
00387433 - PubMed: Beunders 2013 - F - - - - - - - MRD26 short stature, microcephaly, feeding difficulties, moderate intellectual disability/developmental delay, autism, generalized hypotonia, highly arched eyebrows, hypertelorism, proptosis, short and upslanting palpebral fissures, ptosis, strabismus, prominent nasal tip, anteverted nares, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, short forehead, kyphosis/scoliosis, arthrogryposis/shallow palmar creases 1 1 Alexander Groffen
00387434 - PubMed: Beunders 2013 - F - - - - - - - MRD26 low birth weight, short stature, microcephaly, mild to moderate ID/developmental delay, cerebral palsy/spasticity, hyperintense signal periventricular white matter, epicanthal fold, strabismus, prominent nasal tip, anteverted nares, ear pit, narrow mouth, mild kyphosis/scoliosis, tight heel cords, hernia umbilicalis/inguinalis, sacral dimple 1 1 Alexander Groffen
00387436 - PubMed: Beunders 2013 - F - - - - - - - MRD26 short stature, microcephaly, mild intellectual disability/developmental delay, generalized hypotonia, cerebral palsy/spasticity, highly arched eyebrows, proptosis, epicanthal fold, metopic synostosis 1 1 Alexander Groffen
00387439 - PubMed: Beunders 2013 - F - - - - - - - MRD26 premature birth, low birth weight, feeding difficulties, intellectual disability/developmental delay, autism, generalized hypotonia, intraventricular hemorrhage, cerebral palsy/spasticity, hypertelorism, tight heel cords 1 1 Alexander Groffen
00387440 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, feeding difficulties, severe intellectual disability/developmental delay, autism, almost no speech, generalized hypotonia, cerebral palsy/spasticity, ataxic gait, highly arched eyebrows, hypertelorism, proptosis, ptosis, epicanthal fold, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, narrow mouth, prominent lips, hernia umbilicalis/inguinalis 1 1 Alexander Groffen
00388186 - PubMed: Amarillo 2014 - F - (United States) - - - - - NDD severe speech and language disorder, history of tonic-clonic movements, pes planus with eversion of the feet 1 1 Alexander Groffen
00388187 - PubMed: Nagamani 2014 - F - (United States) - - - - - DD developmental delay, dysmorphic features, campodactyly, mild scoliosis of thoracic spine, atrial septal defect 1 1 Alexander Groffen
00388188 - PubMed: Nagamani 2014 - F - (United States) - - - - - DD global developmental delay (without dysmorphic features) 1 1 Alexander Groffen
00388189 - PubMed: Nagamani 2014 - F - (United States) - - - - - DD developmental delay, mild to moderate ID, autism spectrum disorder, microcephaly, radio-ulnar synostosis, dysmorphic features including triangular facies and mid-face hypoplasia 1 3 Alexander Groffen
00388190 - PubMed: Jolley 2013 - M - (Australia) - - - - - DD developmental delay (DD), intellectual disability (ID), short stature, feeding difficulties, ptosis, mild dysmorphism 1 1 Alexander Groffen
00388514 - PubMed: Leppa 2016 - - - - - - - - - autism - 1 1 Johan den Dunnen
00435318 261901 - - M no ? (unknown) - - - - - MRD26 Autism, Global developmental delay, Small for gestational age, Esodeviation, Delayed speech and language development 1 1 Andreas Laner
00456673 309110 - - M no Germany - - - - - MRD26 Intellectual disability, Short attention span, Expressive language delay, Axial hypotonia, Delayed gross motor development, Gait imbalance, Incoordination, Neurodevelopmental delay 1 1 Andreas Laner
00458042 - - - F - - (not applicable) white - - - - NDD HP:0002342, HP:0000252, HP:0000750 1 1 Marketa Wayhelova
00471246 CB-DYS-158 PubMed: Zech 2020 - - - - - - - - - DYT infancy-onset segmental dystonia with coexisting non-movement disorder-related neurological symptoms 1 1 Johan den Dunnen
00471247 CB-DYS-099 PubMed: Zech 2020 - - - - - - - - - DYT childhood-onset segmental dystonia with coexisting non-movement disorder-related neurological symptoms; dystonic cerebral palsy 1 1 Johan den Dunnen
00472771 LR15-097 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; motor delay; autistic features; hypotonia; 5y-epilepsy; spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain normal; down slanting palpebral fissures; short palpebral fissures; no telecanthus; no strabismus; no synophrys; no horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); no prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; normal hallux; bilateral clubfeet 1 1 Johan den Dunnen
00472772 LR15-004 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; autistic features; no hypotonia; 10y-epilepsy, severe epileptic encephalopathy; no spasticity; attention-deficit hyperactivity disorder; MRI brain normal; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no eye closure with smile; no synophrys; no horizontal eyebrows (mild) or low-set; thick eyebrows; no eyebrows sparse (total or partly); no prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; no short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; mild maxillary hypoplasia; broad terminal phalanges (thumbs/halluces); kyphosis/scoliosis; normal heel cords; angulated hallux 1 1 Johan den Dunnen
00472773 LR05-007 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - RSTS see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; no speech; motor delay; autistic features; hypotonia; no epilepsy, two febrile seizures; spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, small brainstem; down slanting palpebral fissures; short palpebral fissures; telecanthus; no strabismus; eye closure with smile; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; convex nasal ridge; anteverted nares; low hanging columella; no short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; mild synophrys, mildly overhanging nasal tip, narrow nasal ridge, thin lips, blepharophimosis, deep set eyes; broad terminal phalanges (thumbs/halluces); kyphosis/scoliosis; tight heel cords; normal hallux; persistent toe walking; bilateral patellar dislocation; symphalangism 1 1 Johan den Dunnen
00472774 LR15-003 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - RSTS see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; no speech; motor delay; autistic features; hypotonia; <18y-epilepsy; no spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, borderline small cerebellum/posterior fossa; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; strabismus; no eye closure with smile; synophrys; horizontal eyebrows (mild) or low-set; thick eyebrows; no eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; convex nasal ridge; anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; ear malformation or low-set ears; wide nasal base; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; angulated hallux; 5th finger clinodactyly, fetal pads, short 4th metatarsals overlapping 4th/5th toes both feet 1 1 Johan den Dunnen
00472775 LR18-404 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; severe speech-language disability; motor delay; hypotonia; no epilepsy; no spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, small cerebellum is vermis predominant; down slanting palpebral fissures; short palpebral fissures; telecanthus; strabismus; no eye closure with smile; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; no convex nasal ridge; anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; short palpebral fissures, short philtrum; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; normal heel cords; normal hallux; Chiari I, cranial skeletal anomalies; pes planus 1 1 Johan den Dunnen
00472776 LR19-314 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; severe speech-language disability; motor delay; autistic features; hypotonia; no epilepsy, one febrile seizure; no spasticity; attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, small cerebellum is vermis predominant; no down slanting palpebral fissures; short palpebral fissures; telecanthus; no strabismus; no eye closure with smile; synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); no prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; anteverted nares; no low hanging columella; no short philtrum; narrow (small) mouth; thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; hypoplastic columella, long smooth philtrum; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; normal heel cords; normal hallux; pes planus, short fingers, clinodactyly 5th finger 1 1 Johan den Dunnen
00472777 LR19-506 PubMed: Liu 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; severe speech-language disability; motor delay; autistic features; no hypotonia; 10m-epilepsy; no spasticity; no attention-deficit hyperactivity disorder; MRI brain structural brain anomaly; no corpus callosum malformation; cerebellar malformation; no small posterior fossa, borderline small cerebellum, arachnoid cyst posterior fossa; no down slanting palpebral fissures; no short palpebral fissures; telecanthus; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); no prominent (high) nasal bridge; wide (broad) nasal bridge; no convex nasal ridge; anteverted nares; no low hanging columella; no short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; right-sided ptosis/squint; low anterior hairline, short nose, narrow nasal ridge, prominent earlobes, long philtrum thin lips; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; normal heel cords; normal hallux; over-riding 2nd toes 1 1 Johan den Dunnen
00472778 LR-ER-2 PubMed: Erdogan 2025 2-generation family, affected child/father - - - - - - - - NDD no short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; no motor delay; autistic features; no epilepsy; no spasticity; no attention-deficit hyperactivity disorder; impulsive behavior when frustated; FLAIR hyperintesity, occipital gliosis/artefact; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; broad terminal phalanges (thumbs/halluces); normal hallux; bilateral 5th toe clinodactyly 1 1 Johan den Dunnen
00472779 LR19-321 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; motor delay; autistic features; hypotonia; no epilepsy; spasticity; behavioral issues; MRI brain normal; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no synophrys; horizontal eyebrows (mild) or low-set; thick eyebrows; no eyebrows sparse (total or partly); no wide (broad) nasal bridge; no anteverted nares; low hanging columella; short philtrum; no narrow (small) mouth; thick vermillion upper or lower lip (thick lips); small jaw; no ear malformation or low-set ears; overhanging nasal tip; normal terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; normal hallux; mild contractures elbows/ankles. 1 1 Johan den Dunnen
00472780 LR19-315 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., no short stature; microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; motor delay; autistic features; hypotonia; no epilepsy; spasticity; no attention-deficit hyperactivity disorder; behavioral issues; noise sensitivity, long awake phases at night; white matter thinning, isolated small gliosis; no down slanting palpebral fissures; no short palpebral fissures; telecanthus; strabismus; no eye closure with smile; no synophrys; no horizontal eyebrows (mild) or low-set; no thick eyebrows; no eyebrows sparse (total or partly); no prominent (high) nasal bridge; wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; normal hallux; bilateral clubfeet 1 1 Johan den Dunnen
00472781 LR-CG-1 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., no short stature; no microcephaly; intellectual disability; developmental delay; speech delay, 3y-single words; motor delay; no autistic features; no hypotonia; no epilepsy; no spasticity; attention-deficit hyperactivity disorder; poor balance; MRI brain normal; no down slanting palpebral fissures; no short palpebral fissures; telecanthus; strabismus; no eye closure with smile; synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; no convex nasal ridge; anteverted nares; low hanging columella; no short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; ear malformation or low-set ears; thin upper lip vermillion; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; bilaterally 5th finger clinodactyly, proximally placed thumbs 1 1 Johan den Dunnen
00472782 LR23-023 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; no speech; motor delay; autistic features; hypotonia; no epilepsy; spasticity; no attention-deficit hyperactivity disorder; behavioral issues (autism); MRI brain structural brain anomaly; corpus callosum malformation; down slanting palpebral fissures; short palpebral fissures; telecanthus; no strabismus; no eye closure with smile; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; convex nasal ridge; no anteverted nares; low hanging columella; no short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; ear malformation or low-set ears; mild blepharophimosis, eyebrows sparse laterally, medial flaring eyebrows, nasal tip mildly low-hanging, nose asymmetric and, nasal ridge angulated to lef, sharp upper nasal ridge. T, thin upper lip vermillion, wide philtrum, mild maxillary hypoplasia, mildly prominent jaw, narrow shoulders; broad terminal phalanges (thumbs/halluces); kyphosis/scoliosis; normal heel cords; normal hallux; short small middle/distal phalanges L2, R2, R4. 1 1 Johan den Dunnen
00472783 LR23-017 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., short stature; microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; severe speech-language disability; motor delay; autistic features; hypotonia; 4y-epilepsy; no spasticity; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, concern for brachycephaly, underdeveloped Sylvian fissure, mild ventriculomegaly at lateral and third ventricle; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; strabismus; no synophrys; horizontal eyebrows (mild) or low-set; no thick eyebrows; eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); small jaw; ear malformation or low-set ears; narrow nasal ridge, thin lips, blepharophimosis, deep set eyes; broad terminal phalanges (thumbs/halluces); kyphosis/scoliosis; tight heel cords; normal hallux; bilateral genu valgum, hip dysplasia; probable symphalangism 1 1 Johan den Dunnen
00472784 LR15-081 PubMed: Erdogan 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; normal speech; motor delay; autistic features; no hypotonia; no epilepsy; no spasticity; attention-deficit hyperactivity disorder; behavioral issues; self isolating behaviors; MRI brain normal; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no eye closure with smile; no synophrys; no horizontal eyebrows (mild) or low-set; no thick eyebrows; no eyebrows sparse (total or partly); no prominent (high) nasal bridge; no wide (broad) nasal bridge; no convex nasal ridge; no anteverted nares; no low hanging columella; short philtrum; no narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; no ear malformation or low-set ears; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; normal heel cords; normal hallux 1 1 Johan den Dunnen
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