All individuals with variants in gene PCGF2

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00050477 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - ? specific learning disability, joint hypermobility, long face, constipation, frontal bossing, mandibular prognathia, microtia, downslanted palpebral fissures 1 1 Johan den Dunnen
00050700 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? macrocephaly, mild short stature, drooling, pigmented nevi, short tapering fingers, abnormality of the palpebral fissures, abnormality of the curvature of the vertebral column, specific learning disability, abnormality of the outer ear, hypoplasia of the primary teeth 1 1 Johan den Dunnen
00210195 30343942-Pat1 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? frontal and temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); no low-set ears (-HP:0000369); no hypoplasia external ear (-HP:0008772); narrow palpebral fissures (HP:0045025); downslanted palpebral fissures (HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); anterior high palate (HP:0000218); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , peg-like front teeth; Hypoplastic alae nasi; Short tapering fingers; Valgus deformity of the feet; Vertebral hypoplasia (HP:0008417) L1; Abnormal thoracic spine (HP:0100711) , thoraco-lumbar kyphosis (non-progressive); Skeletal survey at 2.5y: delayed epiphyseal ossification, particularly carpal bones, pseudo-epiphyses of many metacarpals.; Enlarged aortic root. Diameter at sinus of Valsalva = 4.7cm (Z score ~7.7) at 21y; no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , slowly improved; persistent drooling (HP:0002307), requiring surgery; conductive hearing impairment (HP:0000405); Multiple pigmented naevi on torso.; severe intellectual disability; Absent speech, no first words, Nonverbal; sit-12m, walk-4y, poor coordination; no seizures; muscular hypotonia (HP:0001252); no hypertonia (-HP:0001276); Dilatation of 3rd and 4th ventricles, reduced white matter, thin corpus callosum; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); Mother took mefloquine in first 6w; birth gestational age 40; birth weight 2900 g (~9th); 11y-weight 29.1 kg(~5th), height 129.2 cm (~1st), head circumference 57.7 cm (~97th) 1 1 Johan den Dunnen
00210196 30343942-Pat2 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); mild satyr ears (HP:0030676); no low-set ears (-HP:0000369); no hypoplasia external ear (-HP:0008772); narrow palpebral fissures (HP:0045025); downslanted palpebral fissures (HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218); mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , malocclusion; Long narrow hands and fingers.; Valgus deformity of feet; Vertebral hypoplasia (HP:0008417) , normal spine x-rays; Mild dilatation of left ventricle. Mild aortic valve regurgitation. Aortic root at sinus of valsalva 2.5cm (Z=-0.29); no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , requiring ACE procedure at age 12 years; no drooling (-HP:0002307); conductive hearing impairment (HP:0000405); Morgagni hernia of diaphragm detected as incidental finding on cardiac MRI scan. Asymptomatic; moderate intellectual disability; Delayed speech, <2y first words, 15 words at 2y; sit-12m, walk-2y, normal coordination; No problems; no seizures; no muscular hypotonia (-HP:0001252); no hypertonia (-HP:0001276); Report only: normal; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); Mum took sodium valproate during pregnancy; birth gestational age 42; birth weight 3340 g (25-50th); 17y-weight 50.9 kg(~20th), height 175.9 cm (~97th), head circumference 51.5 cm (~0.4th) 1 1 Johan den Dunnen
00210197 30343942-Pat3 PubMed: Turnpenny 2018 2-generation family, affected monozygotic twins, unaffected non-carrier parents F - - - - - - - ? temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); short and narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); mild mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , malocclusion; normal hands; Abnormal thoracic spine (HP:0100711) , thoracic kyphosis, lumbar lordosis; PDA (surgically closed); no genitourinary defects; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); constipation (HP:0002019); Not toilet trained; no conductive hearing impairment (-HP:0000405); Sleep apnoae, improved following adeno-tonsillectomy. Pigmented naevi on scalp.; moderate intellectual disability; Delayed speech, Several simple words at 8y; sit-12m, walk-3y, normal coordination; Attention deficit hyperactivity disorder, poor eye contact; Obstructive Sleep apnoea; no seizures; no muscular hypotonia (-HP:0001252); mild diplegia hypertonia (HP:0001276); Bilateral, widespread abnormal white matter, particularly periventricular areas, most severe posteriorly. Bilateral, extensive polymicrogyria.; Tortuosity of internal carotids; polyhydramnios (HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40+4; birth weight 2050 g (<0.4th); 5y3m-weight 15.5 kg(~2nd-9th), height 110 cm (25-50th), head circumference 49 cm (~1st) 1 2 Johan den Dunnen
00210198 30343942-Pat4 PubMed: Turnpenny 2018 twin F - - - - - - - ? temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); short and narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); mild mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , malocclusion; normal hands; Abnormal thoracic spine (HP:0100711) , mild thoracic kyphosis and lordosis; PDA (spontaneously closed); no genitourinary defects; no feeding difficulties in infancy (-HP:0008872); gastroesophageal reflux (HP:0002020); constipation (HP:0002019); Not toilet trained; no conductive hearing impairment (-HP:0000405); Left-sided diaphragmatic hernia of Morgagni, operated. Adeno-tonsillectomy. Pigmented naevi on scalp and neck.; moderate intellectual disability; Delayed speech, Several simple words at 8y; sit-12m, walk-2.5y, normal coordination; Attention deficit hyperactivity disorder, poor eye contact; Obstructive Sleep apnoea; no seizures; no muscular hypotonia (-HP:0001252); mild diplegia hypertonia (HP:0001276); Bilateral, widespread abnormal white matter, particularly periventricular areas, most severe posteriorly; bilateral, extensive polymicrogyria.; polyhydramnios (HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40+4; birth weight 2090 g (<0.4th); 5y3m-weight 16.5 kg(9-25th), height 115 cm (75th-91st), head circumference 49 cm (~1st) 1 1 Johan den Dunnen
00210199 30343942-Pat5 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? sparse scalp hair (HP:0002209); mild long face (HP:0000276); malar flattening (HP:0000272); late-closing wide anterior fontanel (HP:0000260); frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); no narrow palpebral fissures (-HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218), bifid uvula; mild mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , small wide-spaced teeth; Long eyelashes; normal hands; normal feet; Vertebral hypoplasia (HP:0008417) , small body of T3; Mild dilatation of ascending aorta (resolved). PDA, prolapse of mitral and tricuspid valves with slight insufficiency.; no genitourinary defects; feeding difficulties in infancy (HP:0008872), NG fed 9 to 1.6y); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , with incontinence; conductive hearing impairment (HP:0000405); Photophobia; mild intellectual disability; Delayed speech; Performance IQ 75, verbal IQ 101 at 3.6y (SON-test); sit-11m, walk-2y, normal coordination; Shy. Pulls hair of other children; Frequent waking at night; no seizures; mild axial muscular hypotonia (HP:0001252); hypertonia (HP:0001276) (legs); Photophobia; Bilateral, abnormal periventricular areas of white matter, most prominent posteriorly.; Tortuosity of internal carotids; polyhydramnios (HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 38+2; birth weight 2200 g (~2nd), 3.6y-weight 12.9 kg(~9th), height 99.8 cm (~50th), head circumference 44.1 cm (0.95y); (25-50th) 1 1 Johan den Dunnen
00210200 30343942-Pat6 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? frontal and temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); wide anterior fontanel (HP:0000260); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); anteverted nares; narrow mouth (HP:0000160); downturned corners mouth (HP:0002714); no mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , malocclusion, 12 teeth removed for crowding; Smooth philtrum; Small hands, right single palmar crease, prominent inter-phalangeal joints; Small feet, metatarsus adductus, planovalgus feet, large great toes, over-riding fourth toes; Vertebral hypoplasia (HP:0008417) , truncated sacrum with flexion deformity at S4, three sacral segments identified. Tall vertebrae.; Abnormal thoracic spine (HP:0100711) , mild scoliosis with thoracic kyphosis; Slender bones, coxa valga; ASD; no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , overflow incontinence; conductive hearing impairment (HP:0000405) (also mild sensori-neural impairment); Six haemangiomas in infancy. Cloudy corneas as infant, resolved. Growth hormone treatment from age 7y.; mild/moderate intellectual disability; Mild delay speech; walk-3y, normal coordination; Anxiety requiring medication. Autistic behaviours; Obstructive sleep apnoea (from 10y); no seizures; central muscular hypotonia (HP:0001252); hypertonia (HP:0001276) (peripheral); Abnormal tone as infant largely resolved.; Bilateral, patchy areas of abnormal white matter; bilateral, subtle perisylvian polymicrogyria; no polyhydramnios (-HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 37+3; birth weight 1652 g (<0.4th), birth weight 2900 g (~9th), 11y-weight 29.1 kg(~5th), height 129.2 cm (~1st), head circumference 57.7 cm (~97th) 1 1 Johan den Dunnen
00210201 30343942-Pat7 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); mild frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); mild narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218); mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , dental crowding; Skull & face asymmetry; normal hands; normal feet; Pectus excavatum; ASD, PDA; no genitourinary defects; feeding difficulties in infancy (HP:0008872) , (NG fed); gastroesophageal reflux (HP:0002020); no severe constipation (-HP:0002019); Feeding improved post-adenoidectomy; conductive hearing impairment (HP:0000405); Transient corneal opacities; delayed intellectual disability; Delayed speech, Short sentences, dysarthric; Good memory, knows many songs, counts to 10, uses tablet,; walk-4.5y, stumbles easily, can draw but out of line,; Communicative and attentive; Sleep disorder requiring medication.; nocturnal, generalized, lamotrigine responsive seizures; muscular hypotonia (HP:0001252); Bilateral, patchy areas of abnormal white matter.; polyhydramnios (HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 38; birth weight 3340 g (25-50th); 17y-weight 50.9 kg(~20th), height 175.9 cm (~97th), head circumference 51.5 cm (~0.4th) 1 1 Johan den Dunnen
00210202 30343942-Pat8 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? nolong face (-HP:0000276); mild malar flattening (HP:0000272); mild frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); mild narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); Exotropia; Flat thenar eminences; Right ankle pronation, mild clinodactyly of the toes; Abnormal thoracic spine (HP:0100711) , right thoracic neuromuscular scoliosis; Long torso; Aortic root and ascending aorta mildly dilated.; no genitourinary defects; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); severe constipation (HP:0002019); Numerous food aversions and allergies; Unexplained episodes of metabolic acidosis, hypoglycemia, mild dehydration, multiple food allergies.; delayed intellectual disability; Absent speech, no first words, Nonverbal, uses gestures, signs, and tablet; Age 6y 2m: grasp equivalent to 20m level, visual motor integration at 17m level; sit-11m, walk-3y 3m, variable gait pattern, cannot jump; Autism spectrum disorder; no seizures; muscular hypotonia (HP:0001252); Tactile sensitivity; Bilateral, patchy areas of abnormal white matter, prominent perivascular spaces in corpus callosum.; Tortuous carotid and vertebral arteries.; polyhydramnios (HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40+3; birth weight 2050 g (<0.4th); 5y3m-weight 15.5 kg(~2nd-9th), height 110 cm (25-50th), head circumference 49 cm (~1st) 1 1 Johan den Dunnen
00210203 30343942-Pat9 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); no prominent nasal tip (-HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Telecanthus; normal hands; normal feet; Pectus carinatum; Orchidopexy for undescended testicle; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); no severe constipation (-HP:0002019); delayed intellectual disability; Delayed speech; sit-15m, walk-2y 2m, normal coordination; no seizures; central muscular hypotonia (HP:0001252); Report only: Irregular gyral pattern, mild cerebellar vermis hypoplasia, enlarged extra-axial spaces.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39+4; birth weight 2090 g (<0.4th); 5y3m-weight 16.5 kg(9-25th), height 115 cm (75th-91st), head circumference 49 cm (~1st) 1 1 Johan den Dunnen
00210204 30343942-Pat10 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? Mild temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); mild malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); mild narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Hypertelorism; normal hands; normal feet; Pectus excavatum; Mildly dilated ascending aorta. SVT after near syncopal event.; no genitourinary defects; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); no severe constipation (-HP:0002019); Toilet trained 6y; conductive hearing impairment (HP:0000405); Hemangiomas. Duplicated renal collecting system.; delayed intellectual disability; Delayed speech, 2.5y first words, Problems with articulation; walk-18_24m; seizures x1 associated with UTI; muscular hypotonia (HP:0001252); Schooled in an inclusion class; Bilateral, patchy areas of abnormal white matter, lateral ventricles slightly prominent with coarctation of the frontal horns.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39; birth weight 2200 g (~2nd); 3.6y-weight 12.9 kg(~9th), height 99.8 cm (~50th), head circumference 44.1 cm (0.95y), (25-50th) 1 1 Johan den Dunnen
00210205 30343942-Pat11 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); mild, asymmetrical narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , small teeth in lower jaw; Mildly adducted thumbs, full passive movement.; Overlapping toes with persistent flexion 3rd toe bilaterally.; ASD, PDA – closed spontaneously.; no genitourinary defects; feeding difficulties in infancy (HP:0008872) , (NG fed); gastroesophageal reflux (HP:0002020); severe constipation (HP:0002019) , improved on treatment; drooling (HP:0002307), improved by hyoscine treatment.; delayed intellectual disability; Delayed speech, <2y first words, 3-4 words at 2y 9m; at 8y able to converse but repetitive and lacks understanding; Development 3y behind at age 8y; sit-13m, walk-2y 3m; possible seizures x1; no muscular hypotonia (-HP:0001252); Report only: normal at 11w; no polyhydramnios (-HP:0001561); mild intrauterine growth retardation (HP:0001511); Increased nuchal translucency; echogenic bowel at 21w; normal amniocentesis; birth gestational age 38; birth weight 1652 g (<0.4th); 12y-weight 31.75 kg(~9th), height 140.6 cm (~10th), head circumference 53.7 cm (~25th) 1 1 Johan den Dunnen
00210206 30343942-Pat12 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? frontal and temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); anteverted nares; narrow mouth (HP:0000160); downturned corners mouth (HP:0002714); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Mildly tapered digits; Bilateral orchidopexy; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); no severe constipation (-HP:0002019); Taking formula at 30m; conductive hearing impairment (HP:0000405); delayed intellectual disability; Absent speech, no first words, Babble only at 30m; walk-29m, unstable gait at 30m; Limited social interaction, manipulates toys; no seizures; muscular hypotonia (HP:0001252); Bilateral patchy areas of abnormal white matter; bilateral perisylvian polymicrogyria.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39; birth weight 2380 g (~1st); 7y-weight 18 kg(~2nd), height 110 cm (~1st), head circumference 50 cm (~1st) 1 1 Johan den Dunnen
00210207 30343942-Pat13 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? sparse scalp hair (HP:0002209); frontal bossing (HP:0002007); hypoplasia external ear (HP:0008772); prominent nasal tip (HP:0005274); high palate (HP:0000218); mandibular prognathia (HP:0000303); abnormal dentition (HP:0000164) , malposition secondary teeth, radicular resorption.; Long, narrow fingers. Bilateral 2nd-5th finger campodactyly.; Long, narrow toes. Mild pes cavus.; Abnormal thoracic spine (HP:0100711) , kyphoscoliosis; Long, narrow thorax. Delayed bone age at 5y 7m.; Dilation of the aorta; no genitourinary defects; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); 12y drooling (HP:0002307); delay intellectual disability noted from 8m; Delayed speech, Difficulties with pronunciation; Difficulties in writing and language skills. Repeated school year at 7y. Good visual memory.; walk-26m, fine and gross motor clumsiness; Smiles normally, difficult to interpret his emotions. Impulsive. Tactile sensitivity.; no seizures; Facial muscular hypotonia (HP:0001252); Report only: normal at 8y; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40; birth weight 3200 g (25-50th); 7y9m-weight 21.1 kg(~10th), height 123.2 cm (~25th), head circumference 49.2 cm (16 m), (~95th) 1 1 Johan den Dunnen
00386952 SK248.2 - - F no Latvia - - - - - ? language delay, behavior problems, cleft palate 1 1 Baiba Lace
00458524 Pat1 PubMed: Devanna 2018 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ID - 1 1 Johan den Dunnen
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