All individuals with variants in gene SETD1A

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00050683 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development 1 2 Johan den Dunnen
00275864 Pat04/Pat6 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech F - - - - - - - SPCH childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria 1 1 Johan den Dunnen
00311494 272178 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311495 276932 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311496 276685 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311552 270635 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311553 273735 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311554 279287 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311555 273735 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311556 266420 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311557 278750 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00390025 3 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula 1 1 LOVD
00455163 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 1 Johan den Dunnen
00455164 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 3 Johan den Dunnen
00455165 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - autism - 1 4 Johan den Dunnen
00455166 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 1 Johan den Dunnen
00455217 - - - M - - (not applicable) white - - - - NDD HP:0001305, HP:0000750, HP:0001513, HP:0001263 1 1 Marketa Wayhelova
00466431 343818 - - M no ? (unknown) - - - - - MRD Hypotonia, Delayed gross motor development, Abnormality of connective tissue, Joint hypermobility, Delayed speech and language development 1 1 Andreas Laner
00466432 FamPatIV1 PubMed: Yu 2019, Journal: Yu 2019 4-generation family, 4 affected (daughter, father, paternal grandfather, paternal great-grandmother) F no China - - - - - seizures see paper; ..., born at term; 2d-paroxysmal seizures (blinking, staring, foaming, twisting at mouth), 2-3x per day facial cyanosis averaging; MRI brain normal; normal development 1 4 Johan den Dunnen
00466433 FamPayIII1 PubMed: Yu 2019, Journal: Yu 2019 father M no China - - - - - seizures seizures 1 1 Johan den Dunnen
00466434 FamPatII1 PubMed: Yu 2019, Journal: Yu 2019 grandfather M no China - - - - - seizures seizures 1 1 Johan den Dunnen
00466435 FamPatI2 PubMed: Yu 2019, Journal: Yu 2019 paternal greatgrandmother F no China - - - - - seizures seizures 1 1 Johan den Dunnen
00466436 Pat2 PubMed: Yu 2019, Journal: Yu 2019 2-generation family, 1 affected, unaffected non-carrier parents F no China - - - - - seizures see paper; ..., uneventful pregnancy; 2y-poor spirits, pale complexion, vomiting, persistent twitch moving from left finger, to arm, to left lower extremity and mouth; clonic/tonic seizures; normal growth; normal development; EEG paroxysmal sharp waves, sharp slow waves both sides, especially at back 1 1 Johan den Dunnen
00466437 Pat3 PubMed: Yu 2019, Journal: Yu 2019 2-generation family, 1 affected, unaffected non-carrier parents M no China - - - - - seizures see paper; ..., born at term; hypoglycemia, hypothyroidism, growth retardation; 9m-seizures (shrug and wry-neck without apparent cause lasting 1s, several times per day, symptoms occurred frequently upon waking, less frequently when in sedated condition); development delay; EEG multifocal sharp waves, spike waves, spike slow waves, extending predominantly on left side during sleep; MRI cerebral dysplasia, decreases in myelinated white matter, mild ventriculomegaly 1 1 Johan den Dunnen
00466438 Pat4 PubMed: Yu 2019, Journal: Yu 2019 2-generation family, 1 affected, unaffected non-carrier parents M no China - - - - - seizures see paper; ..., 36w-birth, weight 2.99kg; 1d-severe tonic-clonic seizures; EEG bilateral sharp waves, spike-and-waves; MRI brain high T1W1 signal bilateral cerebral occipital areas, subdural hemorrhage; lung dysplasia, sepsis, patent foramen ovale, bilateral hydrocele testis; brother neonatal seizures, 1m died without detailed clinical information 1 1 Johan den Dunnen
00466439 Pat1 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pregnancy mother took gabapentin and birth control first 12 weeks, birth Caesarean section; birth weight 3033g (-1.3 SD); height 91.4cm (-1.4 SD), weight 12.6kg (-1.6 SD), BMI 15.1 (-0.9 SD), OFC 48.3cm (-1.2 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development, does not follow commands; motor delay, delayed gross/fine motor development; behavioral abnormality; autistic behaviour, problems with transitions, problems with food textures; no seizures; hypotonia; no morphological abnormalities central nervous system; no joint hypermobility; slightly broad/wide fingers; no abnormality digestive system; facial dysmorphisms, epicanthus, narrow palpebral fissures, slightly upturned nose, thickened ala nasae and columella, thick vermillion borders, wide mouth, widely spaced teeth 1 1 Johan den Dunnen
00466440 Pat2 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mother history of miscarriage, uncomplicated pregnancy; height 126cm (+2 SD), weight 27.4kg (+1.5 SD), BMI 17.3 (+1.1 SD); no intellectual disability, no learning difficulties; no global developmental delay; behavioral abnormality; no sleep disturbance; -; 4y6m-seizures, epilepsy syndrome consistent with Doose syndrome; no hypotonia; no morphological abnormalities central nervous system; encephalopathy; dysarthria (mild); rremor (slight); dysgraphia (right hand); no joint hypermobility; no abnormality extremities; no abnormality digestive system; facial dysmorphisms, epicanthus, hypertelorism, wide nose, wide mouth 1 1 Johan den Dunnen
00466441 Pat3 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mother history of miscarriage, birth Caesarean section; birth weight 2722g (-0.4 SD); height 159.5cm (-1.4 SD), weight 69.8kg (+1.5 SD), BMI 27.4 (+1.4 SD), OFC 56cm (+0.5 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; no sleep disturbance; attention deficit hyperactivity disorder, short attention span, hears voices telling to do things and seeing things; seizures, benign focal onset seizures in early childhood; no hypotonia; no morphological abnormalities central nervous system; deficit in phonologic short-term memory( due to anxiety?); EEG abnormal; no joint hypermobility; no abnormality extremities; craniosynostosis; no abnormality digestive system; facial dysmorphisms, tall protruding forehead, receded anterior hairline, downslanted palpebral fissures, cupped ear, low-set ears, prominent chin; recurrent otitis media; recurrent pneumonia; myopia; astigmatism; easy fatigability 1 1 Johan den Dunnen
00466442 Pat4 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., uncomplicated pregnancy; birth weight 3320g (+0.1 SD); height 106cm (-3.4 SD), weight 19kg (-1.7 SD), BMI 16.9 (+0.9 SD), 3y4m-OFC 53.2cm (+1.4 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development, more severely affected than motor; motor delay; no behavioral abnormality; no seizures; hypotonia; morphological abnormalities central nervous system, Chiari I malformation; joint hypermobility; full, puffy hands and feet, mild 2-3 syndactyly feet, broad halluces; constipation (in the past); facial dysmorphisms, mild hypertelorism, low nasal bridge, downslanted palpebral features, peri-orbital fullness, mild ptosis, full lips (these dysmorphisms were such that coffin-lowry syndrome was specifically looked for), cupped ears, minimal notched alae nasi (the dysmorphisms around the eyes and the full lips have greatly improved over time. as has the puffyness of hands and feet); recurrent middle ear infections; abnormality of refraction 1 1 Johan den Dunnen
00466443 Pat5 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - 4y4m - - - NDD see paper; ..., 4y4m-deceased; uncomplicated pregnancy; birth weight 2410g (-2.9 SD); height 85cm (<-2.5 SD), weight 14kg (-2.3 SD), BMI 19.4 (+1.9 SD), OFC 49cm (-1.4 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; sensory aversions; no seizures; hypotonia; morphological abnormalities central nervous system, T2 Hyperintensity; EEG generalized slowing, no epileptiform activity; no joint hypermobility; tapered fingers; gastrojejunal tube feeding, constipation, failure to thrive; facial dysmorphisms, coarse facial features, prominent forehead, anteverted nares, posteriorly rotated ears, epicanthus, downslanted palpebral fissures, wide nasal bridge; common variable immune deficiency; decreased antibody level in blood; pulmonary hypertension; chronic interstitial pulmonary disease; tracheostomy/ ventilator dependent 1 1 Johan den Dunnen
00466444 Pat6 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., uncomplicated pregnancy, mother history of miscarriage, fetal emergency Caesarean section; birth weight normal; height 146cm (0 SD), weight 44.6kg (+ 1.6 SD), BMI 20.9 (+1.2 SD), OFC 55.8cm (+ 1.7 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay, rigid movements; behavioral abnormality; no sleep disturbance; anxiety, short attention span, overfriendliness (affectionate behaviour), eating difficulties in line with anorexia; no seizures; hypotonia; joint hypermobility; long fingers; hip dysplasia; no abnormality digestive system; facial dysmorphisms, high forehead, hypertelorism, deeply set eyes, wide nasal bridge, broad nasal tip, anteverted nares, full cheeks, wide mouth, everted upper lip vermillion; sensitive skin 1 1 Johan den Dunnen
00466445 Pat7 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., , uncomplicated pregnancy, birth Caesarean section; birth weight 3200g (-0.6 SD); height 102cm (+0.2 SD), weight 16kg (+0.1 SD), BMI 15.4 (-0.1 SD), OFC 54cm (+2.7 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development, approximately 6m behind; motor delay, approximately 6m behind; behavioral abnormality; sleep disturbance, wakes up frequently; -; no seizures; no hypotonia; no morphological abnormalities central nervous system; joint hypermobility, extremely hypermobile; tapered fingers; insatiable appetite; facial dysmorphisms, mild frontal bossing, low nasal bridge ; refractional abnormality; strabismus; respiratory problems at birth 1 1 Johan den Dunnen
00466446 Pat8 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., uncomplicated pregnancy; birth weight 3050g (-0.7 SD); height 106cm (+0.7 SD), weight 22.7kg (+2.6 SD), BMI 20.2 (+2.4 SD), OFC 49.5cm (-0.3 SD); no intellectual disability, no learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; sleep disturbance; overfriendliness (very open and social), phonophobia; no seizures; no hypotonia; joint hypermobility; pes planus (mild); kyyphosis; neonatal plagiocephaly (treated); gastroesophageal reflux (neonatal period); facial dysmorphisms, high forehead, broad forehead, short nose, bulbous nose, wide nasal bridge, depressed nasal bridge, epicanthus, hypertelorism, midline sinus of philtrum, thick vermilion border, microtia, widely spaced teeth, downslanted palpebral fissures; recurrent infections (ear and respiratory); bruising susceptibility; strabismus (small) 1 1 Johan den Dunnen
00466447 Pat9 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., uncomplicated pregnancy, Caesarean section due to breech presentation; birth weight 3240g (-0.6 SD); height 110cm (- 1 SD), weight 20kg (+ 1 SD), BMI 16.5 (+0.9 SD), OFC 53.5cm (+ 2 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; no sleep disturbance; anxiety, overfriendliness; no seizures; hypotonia; no morphological abnormalities central nervous system; joint hypermobility; pes planus; feeding slowly, constipation; facial dysmorphisms, downslanted palpebral fissures, deeply set eyes, full cheeks, wide mouth, everted upper lip vermilion, widely spaced teeth; visual impairment; hemangioma (left knee) 1 1 Johan den Dunnen
00466448 Pat10 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - NDD see paper; ..., pregnancy 39w-oligohydramnios, maternal obesity, uncomplicated pregnancy; birth weight 2948g (-1.2 SD); height 158.8cm (-1.6 SD), weight 100.5kg (+4.2 SD), BMI 39.9 (+2.3 SD), OFC 55.8cm (+0.4 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; no motor delay; behavioral abnormality; sleep disturbance, requires very little sleep; autism spectrum disorder, aggressive behaviour, skin-picking, Pica; no seizures; no hypotonia; no morphological abnormalities central nervous system; joint hypermobility; pes planus, Achilles tendon contractures; frequent bowel movements; facial dysmorphisms, epicanthus, microtia, attached earlobes; leukocytosis (suspected to be benign); acne (pimples/comedones) at back and buttocks; acanthosis nigricans; pre-diabetics 1 1 Johan den Dunnen
00466449 Pat11 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., uncomplicated pregnancy, 34w-birth; birth weight 2230g (0 SD); height 98cm (0 SD), weight 18kg (+ 1.5 SD), BMI 18.7 (+2.0 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development, limited vocabulary, problems with pronunciation; motor delay; behavioral abnormality; sleep disturbance; aggressive behavior, short attention span, stubborn; 2y-severe seizures; hypotonia; pes planus; hemiplegia left (due to epilepsy treatment); facial dysmorphisms, high forehead, epicanthus, low-set ears, wide nasal tip, anteverted nares, full alae nasi 1 1 Johan den Dunnen
00466450 Pat12 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., , uncomplicated pregnancy, birth Caesarean section; birth weight 3200g (-0.6 SD); height 128cm (+1.3 SD), weight 27.8kg (+1.3 SD), BMI 17 (+0.8 SD), OFC 52.5cm (+0.4 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay, delayed gross/fine motor developmen, clumsiness; behavioral abnormality; sleep disturbance, night terrors, insomnia; anxiety, aggressive behaviour, short attention span, temper tantrums, irritability, obsessive-compulsive traits; no seizures; hypotonia; no morphological abnormalities central nervous system; no joint hypermobility; long fingers, pProminent fingertip pads, bilateral joint contracture 5th finger, sandal gap; pectus excavatum inferior sternum (mild); facial dysmorphisms, narrow forehead, deeply set eyes, hypertelorism, downslanted palpebral fissures, wide nasal bridge and base, broad nasal tip, anteverted nares, broad philtrum, narrow mouth, thick upper and lower lip vermilion, tented upper lip vermilion, protruding and low set ears, underdevelopment of the helix; low-frequency sensorineural hearing impairment 1 1 Johan den Dunnen
00466451 Pat13 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ...,pregnancy g rowth retardation, dizygotic twin pregnancy, breech presentation; birth weight 2020g (< -1 SD); height 103.5cm (-1.5 SD), weight 15.7kg (-1.6 SD), BMI 14.7 (-0.8 SD), OFC 49.5cm (-1.1 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; sleep disturbance; anxiety, aggressive behaviour, temper tantrums; no seizures; hypotonia; no morphological abnormalities central nervous system; no joint hypermobility; pes planus (mild); craniosynostosis; neonatal plagiocephaly; hyperlordosis; abnormality digestive system; facial dysmorphisms, pominent suture right, high forehead, broad forehead, mild hypertelorism, tented upper lip vermilion, ankyloglossia, abnormality of the dentition; soft skin; recurrent infections (ear) 1 1 Johan den Dunnen
00466452 Pat14 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intra-uterine growth retardation, ikaclomide induced pregnancy, uncomplicated pregnancy; birth weight 2470g (-2.7 SD); height 106cm (-2.2 SD), weight 17.5kg (-1.4 SD), BMI 15.6 (+0.3 SD), OFC 50.7cm (-0.1 SD); no intellectual disability, no learning difficulties; global developmental delay; delayed speech delayed language development, speech apraxia; motor delay; behavioral abnormality; no sleep disturbance; impaired social interactions; no seizures; hypotonia; abnormality corpus callosum; abnormal downward eye movements; sensory processing disorder; joint hypermobility; pes planus; postural instability; broad-based gait; right-sided preference; hyperlordosis; congenital torticollis; feeding difficulties during breast feeding; facial dysmorphisms, epicanthus; myopia; recurrent acute otitis media; hearing impairment due to tympanic membrane perforation 1 1 Johan den Dunnen
00466453 Pat15 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 187cm (+0.6 SD), weight 102.8kg (>+2.5 SD), BMI 29.4 (+1.5 SD), OFC 62cm (+2.5 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; sleep disturbance (infant); aggressive behaviour, addictive behaviour, PDD-NOS, bipolar disorder like symptoms, short attention span; no seizures; no hypotonia; no morphological abnormalities central nervous system; no abnormality extremities; facial dysmorphisms, high forehead, tented upper lip vermillion, deeply set eyes, microtia, low set ears; asthma; recurrent ear infections 1 1 Johan den Dunnen
00466454 Pat5 PubMed: Takata 2014, Journal: Takata 2014 2-generation family, 1 affected, unaffected non-carrier parents - - United States African-American - - - - SCZD - 1 1 Johan den Dunnen
00466455 Pat5 PubMed: Takata 2014, Journal: Takata 2014 2-generation family, 1 affected, unaffected non-carrier parents - - United States white - - - - SCZD - 1 1 Johan den Dunnen
00466459 Pat1 PubMed: Singh 2016, Journal: Singh 2016 - - - Finland - - - - - NDD see paper; ..., psychotic episodes with hallucinations and prominent disorganization, requiring psychiatric hospitalization; chronic illness with deterioration; probable mild intellectual disability, completed compulsory education, but repeated several grades 1 1 Johan den Dunnen
00466460 Pat2 PubMed: Singh 2016, Journal: Singh 2016 - - - Finland - - - - - NDD see paper; ..., 10y-onset; disorganized schizophrenia with severe positive and negative symptoms with hallucinations delusions and aggression; chronic, severe symptoms requiring long psychiatric hospitalization; mmild facial dysmorphology; severe learning difficulties, minimal brain damage, abnormal EEG; mild mental retardation; unable to complete compulsory education; developmental delay 1 1 Johan den Dunnen
00466461 Pat3 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., chronic hallucinations and delusions, partially controlled by depot medication; minor problems with memory or understanding, no secondary school diploma 1 1 Johan den Dunnen
00466462 Pat4 PubMed: Singh 2016, Journal: Singh 2016 - - - Sweden - - - - - NDD see paper; ..., two brief admissions, no record of antipsychotic treatment; no immediate family history psychiatric disorders 1 1 Johan den Dunnen
00466463 Pat5 PubMed: Singh 2016, Journal: Singh 2016 - - - Sweden - - - - - NDD see paper; ..., multiple hospitalizations, with 8y of antipsychotic medication; no immediate family history of psychiatric disorders 1 1 Johan den Dunnen
00466464 Pat6 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; .., breech delivery; 02-18y-epilepsy with seizures; socially isolated and dependent on parents till 40y when presented with bizarre somatic delusions, paranoid delusions and auditory hallucinations including running commentary; developed negative symptoms alongside ongoing psychotic symptoms and required long-term institutional care; symptoms persistent, unresponsive to antipsychotic medication; borderline intelligence, attended mainstream school, 17y-left without secondary school diploma; worked as warehouseman 1 1 Johan den Dunnen
00466465 Pat7 PubMed: Singh 2016, Journal: Singh 2016 - - - Sweden - - - - - NDD see paper; ..., multiple hospitalizations, 8y of antipsychotic medication; no immediate family history psychiatric disorders 1 1 Johan den Dunnen
00466466 Pat8 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., capillary hemangiomas, abnormal eyebrow, broad nasal tip, wide mouth, thick lower lip vermilion, short philtrum, overgrowth, renal duplication; delayed speech, delayed language development 1 1 Johan den Dunnen
00466467 Pat9 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., infantile axial hypotonia, delayed gross motor development, midfrontal capillary hemangioma 1 1 Johan den Dunnen
00466468 Pat10 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., mild global developmental delay, hypertelorism, wide nasal bridge, hydrocele testis; aggressive behavior, autoaggression; 2y-2y6m-first words 1 1 Johan den Dunnen
00466469 Pat11 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., global developmental delay, macrocephaly, nevus flammeus forehead, wide and flat nose, mandibular prognathia, hypopigmentation skin, wide intermammillary distance, truncal obesity; breath-holding attacks, night terrors; delayed speech, delayed language development 1 1 Johan den Dunnen
00466470 Pat12 PubMed: Singh 2016, Journal: Singh 2016 - - - - - - - - - NDD see paper; ..., short stature, mild facial morphology, EEG abnormal, delusional disorder, psychosis; mental retardation 1 1 Johan den Dunnen
00466471 Pat13 PubMed: Singh 2016, Journal: Singh 2016 - - - - - - - - - NDD see paper; ..., epilepsy during childhood (grand mal status epilepticus), personality disorder 1 1 Johan den Dunnen
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