Disease #05611 (NDD (neurodevelopmental delay (NDD)))

Official abbreviation NDD
Name neurodevelopmental delay (NDD)
OMIM ID -
Inheritance -
Individuals reported having this disease 1046
Phenotype entries for this disease 1019
Associated with 23 genes ADARB1, AP1G1, DDB1, DHX30, EIF2C1, EIF2C2, GLTSCR1, IQSEC1, MAPK1, MAPK8IP3, NCDN, NCKAP1, NTNG2, POLR2A, POU3F3, PPM1D, SATB1, SCAF4, SHMT2, TAOK1, 3 more...ADARB1, AP1G1, DDB1, DHX30, EIF2C1, EIF2C2, GLTSCR1, IQSEC1, MAPK1, MAPK8IP3, NCDN, NCKAP1, NTNG2, POLR2A, POU3F3, PPM1D, SATB1, SCAF4, SHMT2, TAOK1, TET3, TNPO2, VPS4A
Associated tissues -
Disease features -
Remarks -


Individuals

1046 entries on 11 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00248352 Pro1;Pat3 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized tonic-clonic seizures (onset at 5 years), nocturnal, treatment with Keppra and Micropakine; Limb hypertonia, spastic tetraparesis; normal vision, normal hearing; MRI brain enlargement of the ventricular system and peri-cerebral spaces, thin and irregular appearance of the corpus callosum; Stereotypic movements; microcephaly, plagiocephaly; Small nose, anteverted nares; normal philtrum; Wide mouth with square upper lip; Small teeth, gingival hypertrophy; Prognathism; synophrys, hypertrichosis; Hypertelorism, short neck; no mesomelic dysplasia; Bilateral elbow dislocation; Limited pronosupination, bilateral camptodactyly, edema of back-hands and -feet, bilateral simian creases, tapered fingers, dorsum pedis edema, small toes, hypoplasia of distal phalanges, ungual hypoplasia, neonatal arthrogryposis; Scoliosis; Bilateral coxa valga, dislocation of the hips; no horseshoe kidney; failure to thrive; Apnea; Bilateral cryptorchidism, bicuspid aortic valve AFF3 AFF3 1 1 Johan den Dunnen
00248353 Pro2;Pat4 Journal: Voisin 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD severe developmental delay/intellectual disability; Multifocal epileptiform discharges in bilateral posterior quadrant, no clinical seizures.; Generalized hypotonia; Cortical visual impairment, hyperopic refractive error and small angle intermittent strabismus; MRI brain partial agenesis of the corpus callosum, forshortened and undersulcated frontal lobes, small cerebellar vermis with mega cisterna magna and wide sylvian fissures; no microcephaly; Prominent columella; normal philtrum; Wide mouth, downturned corners, thin upper lip; Small, widely spaced teeth, bruxism; normal chin; -; Full cheeks, mild facial asymmetry; mesomelic dysplasia lower limbs; Bilateral fibular agenesis, short and curved tibia, bilateral Syme amputations with resection of cartilaginous fibular anlage and bilateral tibial osteotomies for angular deformity correction, fitted with bilateral lower extremity prosthetics at 2 years 3 months.; Right single transverse and left bridged palmar crease, bilateral hypoplastic 4th metatarsals, absence of the 5th ray and phalanges of lateral toes, 4 splayed toes; 13 rib-bearing thoracic-type vertebrae and 5 lumbar type vertebrae, hypoplastic L1 with focal kyphosis; normal hips and pelvis; osteopenia; horseshoe kidney; gastroesophageal reflux disease, dysphagia, gastrostomy tube dependent, concerns for esophageal dysmotility ± abnormal gastric accommodation, abnormal gastric emptying with no evidence of small intestinal dysmotility; no failure to thrive; Multicompartmental respiratory disease (upper airway obstruction, lower airway obstruction, ineffective mucociliary clearance, restrictive lung disease, aspiration and pneumonia), moderate to severe mixed sleep apnea, severe laryngomalacia status post supraglottoplasty at 18 months, cough assist and inhaled steroid and bronchodilator and supplemental oxygen with sleep, tonsillectomy and adenoidectomy planned; History of bilateral vesicoureteral reflux, grade II AFF3 AFF3 1 1 Johan den Dunnen
00248354 Pro3;Pat7 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures (onset at 5 months), initially controlled with phenobarbital, developed drug-resistance, partially controlled with carbamazepine, clobazam, nitrazepam and phenobarbital; Axial hypotonia, peripheric hypertonia; normal vision, normal hearing; MRI brain pachygyria of frontal lobes, abnormal opercularization of insulae with thicker insular cortices, wide Sylvian fissures, cerebral atrophy, brainstem hypoplasia, increased volume of the trigones and occipital horns of the lateral ventricles; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; arms and legs Madelung deformity, slender limb bones, fibular hypoplasia/agenesis; Hypoplastic talipes, fusion of tarsal bones; Severe scoliosis, C2-C3 vertebral fusion, L5-S1 vertebral cleft; normal hips and pelvis; osteopenia, osteoporosis; no horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; Neonatal respiratory distress, recurrent pneumonia, frequent hiccups improved with carbamazepine, respiratory arrest leading to death at 21 years AFF3 AFF3 1 1 Johan den Dunnen
00248355 Pro4;Pat8 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Limb hypertonia; Myopia, strabismus; no microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Triangular chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short ulna and radius, radial head dislocation/subluxation, styloid process of ulna on radius, carpal coalition, hypoplastic femora, short and curved tibia with metaphyseal flaring, mid tibial dimples, deviated knees, hypoplastic and gracile fibula; Carpal coalition, small feet, hypoplastic left 5th, metatarsal synostosis; Scoliosis; Bilateral coxa valga with hypoplastic ilia, hip dislocation; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems; Menstrual cycle perturbations AFF3 AFF3 1 1 Johan den Dunnen
00248356 Pro5;Pat9 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - F - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; MRI brain cerebral atrophy with possible brainstem hypoplasia; microcephaly; Small nasal tip; normal philtrum; Wide mouth with square upper lip; Small, widely spaced teeth; normal chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short and thick ulna, slightly shortened radius with convex distal end bilaterally, dislocation of right radial head, short and curved tibia, extremely short rectangular fibula; Talus ossified in hindfoot, one ossified bone in midfoot (cuneiform), missing one lateral ray in left foot, 4th-5th right metatarsal synostosis; Bilateral cervical ribs; Coxa valga; no osteopenia; horseshoe kidney; Constipation, swallowing difficulties, percutaneous endoscopic gastrostomy; failure to thrive; Nightly desaturations treated with CPAP from 3 years of age AFF3 AFF3 1 1 Johan den Dunnen
00248357 Pro6;Pat10 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD severe developmental delay/intellectual disability; Complex partial with secondary generalization; Axial hypotonia, peripheric hypertonia; Central vision loss due to occipital impairment, central progressive hearing loss; MRI brain prominence of CSF spaces; brachycephaly, no microcephaly; Bulbous nasal tip, low hanging columella with low insertion; short smooth philtrum; Wide mouth with downturned corners, thick lower lip vermillion; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; Long palpebral fissures, low-set and posteriorly rotated large ears with a simple helix, facial asymmetry; mesomelic dysplasia 4 limbs; Short fibula, discoid meniscus, limited knee extension; Soft tissue syndactyly of fingers 3rd-4th, small feet, pes planus, 2nd toe overlapping hallux bilaterally; Scoliosis, incomplete coronal cleft of T9 and T12 vertebrae, low lying spinal cord, termination of conus medullaris at upper border of L3; Bilateral coxa valga; osteopenia; horseshoe kidney; gastroesophageal reflux disease, gastrojejunostomy tube dependent, chronic constipation, hiatal hernia, pancreatitis; failure to thrive; no respiratory problems AFF3 AFF3 1 1 Johan den Dunnen
00248358 Pro7;Pat11 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; normal vision, normal hearing; MRI brain cerebral atrophy; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Prominent upper lip; no teeth and gum abnormalities; Mild micrognathia; synophrys, hypertrichosis; Long palpebral fissures; mesomelic dysplasia 4 limbs; Limited supination, radial head dislocation/subluxation, hypoplastic fibula; Limited supination, pes planus, broad toe tips; Pectus excavatum; Hip dislocation; osteopenia, osteoporosis; no horseshoe kidney; Constipation; failure to thrive; no respiratory problems AFF3 AFF3 1 1 Johan den Dunnen
00248359 Pro8;Pat12 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD severe developmental delay/intellectual disability; Generalized (onset at 3 years), tonic-clonic seizures, inefficient treatments but remission since 6 years 9 months; Hypotonia; Strabismus inconstant; MRI brain cerebral atrophy, pachygyria of frontal lobes; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth; Widely spaced teeth; Prognathism; synophrys, hypertrichosis; Long palpebral fissures, low set ears, mild facial asymmetry, gingival hyperplasia diabetes; mesomelic dysplasia 4 limbs; Short humerus, hypoplastic short fibula; Transverse palmar crease, limited pronosupination, proximal deviation of thumbs, small feet, absent calcanei, broad 1th toes, polydactyly, cutaneous process on the side of the 5th finger and cutaneous syndactyly 3th-6th toes on left foot, four metatarsals and partial syndactyly 3th-4th toes on right foot; Scoliosis, fusion 1th-2th ribs, sacral sinus; Coxa valga, hip dysplasia; no osteopenia; horseshoe kidney; Сonstipation, anal dystopia; failure to thrive; no respiratory problems; Popliteal pterygium AFF3 AFF3 1 1 Johan den Dunnen
00248360 Pat13 Journal: Voisin 2019 - M - - - - 0 - - NDD see paper; … AFF3 AFF3 1 1 Johan den Dunnen
00248361 Pat14 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - 0 - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; microcephaly; Ankyloglossia; teeth and gum abnormalities; mesomelic dysplasia lower limbs; Bowed radii, unilateral bowed ulna, shortened ulna, abnormal radial diaphysis, bowed and angulated tibias, hypoplastic fibula; Wide distal radial metaphyses, oligodactyly: 2 tarsal bones on each foot, absent/hypoplastic calcanei, 3 metatarsals, 3 associated phalanges, 1 phalanx not associated with a metatarsal bone; Scoliosis, cervical ribs, anterior superior vertebral notching, tethered cord; Coxa valga, unilateral hip dysplasia; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems AFF3 AFF3 1 1 Johan den Dunnen
00248362 patient;Pat18 Journal: Steichen-Gersdorf 2008, Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - 0 - - NDD severe developmental delay/intellectual disability; Myoclonic jerks, convulsions; MRI brain atrophy, ventriculomegaly; dolicocephaly, no microcephaly; Short palpebral fissures, low set ears, short neck; mesomelic dysplasia 4 limbs; arms and legs radial head dislocation/subluxation, slightly short radius and ulna, short and dysplastic triangular tibias, fibular agenesis; Small equinovalgus feet, oligodactyly: 4 toes on 1 foot, 5 on the other, abnormally spaced; Sacral sinus; horseshoe kidney; Colon malrotation; failure to thrive; Recurrent apnea, 4m-respiratory arrest leading to death AFF3 AFF3 1 1 Johan den Dunnen
00248372 patient 1 PubMed: Raible 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD round face, hair appears thick and coarse, eyes showed long eyelashes and thick eyebrows, synophyrys; developmental delay; low lying conus with lipoma of the filum terminale; Hyperreflexia; no hearing loss; no cataract; chronic lung disease (due to recurrent aspiration?); no tracheostomy; Sleep apnea; Asthma, history of pneumonia; PDA with repair; pulmonary hypertension; Delayed gastric emptying; constipation; no gastrostomy tube; splenomegaly by abd MRI; reflux; Horseshoe kidney; brachydactyly; Abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1. ; no microcephaly; 14y-OFC 25th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; no immunodeficiency, see paper; ..., Synophrys, upturned nose, long philtrum, thick arched eyebrows, long eyelashes, large anterior fontanelle, microcephaly, microbrachycephaly, Wormian bones on her skull; birth weight 2,381 g (−1.94 SD), head circumference 31.1 cm (−2.3 SD); latest weight 32.9 kg (−3.7 SD), height 118.1 cm (−6.9 SD), head circumferance 53 cm (25th centile) 14y; PDA, chronic right‐sided heart failure, pulmonary hypertension; Chronic lung disease of uncertain etiology (status post ARDS) and low oxygen saturations, sleep apnea, asthma, history of aspiration and pneumonia; No hearing loss; Brachydactyly, small hands with proximally placed thumbs, abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1; Horseshoe kidney with repeated episodes of acute kidney injury, chronic kidney disease, diuretic‐associated metabolic alkalosis and hypokalemia; Vomiting and dehydration with delayed gastric emptying, constipation, Candida esophagitis, GERD; Coarse hair AFF4 AFF4 1 1 Johan den Dunnen
00248373 patient 2 PubMed: Raible 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - NDD proptotic appearance to eyes, eyebrows were thick with arch and synophrys, hypertelorism, thickened helices, short nose with upturn, long philtrum, thickened tongue, high narrow palate ; developmental delay; hearing loss; no cataract; Myopia and mild optic atrophy; Subglottic stenosis (grade 2-3) and tracheomalcia, laryngomalasia; chronic lung disease; tracheostomy; Aspiration pneumonia; VSD, PDA with repair, anomalous pulmonary vein; g astrostomy tube Nissen G-tube; reflux; cryptorchidism; bilateral ureteral reflux ; brachydactyly; Congenital fusion of vertebrae C2-C3 and a history of congenital hip subluxation bilaterally. ; hypoplastic changes of L1 and L2 with anterior beaking; no microcephaly; 8y-head circumference 3rd-10th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; history of fungal sepsis AFF4 AFF4 1 1 Johan den Dunnen
00248374 patient 3 PubMed: Izumi 2015, PubMed: Raible 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - NDD round face, synorphyrys, downturn corners mouth, curly hair; developmental delay; cataract; Congenital narrow oropharyinx and laryngomalacia; chronic lung disease; no tracheostomy; Obstructive sleep apnea; PDA, PFO, and VSD; gastrostomy tube; vesico-ureteral reflux; brachydactyly appears on pictures; microcephaly; 6y-head circumference <3rd percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature;, see paper; ..., Synophrys, upturned nose, arched eyebrows, thick ears posteriorly rotated; birth weight 1,757 g (−2.94 SD), height 43 cm (−2.98 SD); latest weight 15.6 kg (−2.1 SD) 6y, height 83.7 cm (−7.3 SD) 6y, head circumferance −3 SD 6y ; PDA, PFO, VSD; Congenital narrow oropharynx, laryngomalacia, chronic lung disease, RAD, tracheostomy, obstructive sleep apnea; No hearing loss; Brachydactyly, deformity and hypoplasia of the proximal radius and fibula bilaterally, focal lumbar kyphoscoliosis at the thoracolumbar junction; Mild grade I vesicoureteral reflux; G tube, constipation; Bilateral cataracts, eczema AFF4 - 0 1 Johan den Dunnen
00248375 patient 4 PubMed: Raible 2019 - F - - - - 0 - - NDD see paper; …, Synophrys, upturned nose, long eyelashes, microcephaly, plagiocephaly; birth weight 2,182 g (−2.27 SD), height 43 cm (−3.6 SD), head circumference 32 cm (−1.6 SD); latest weight 41.7 cm (+1.5 SD), height 120 cm (−3.5 SD), head circumferance 50 cm (−2 SD) ; VSD, PDA; Chronic respiratory issues when young‐resolved; No hearing loss; Brachydactyly, short stature treated with growth hormone treatment; no genitourinary reported; no GI reported; Hypothyroidism AFF4 AFF4 1 1 Johan den Dunnen
00248376 patient 5 PubMed: Raible 2019 - M - - - - 0 - - NDD see paper; …, Synophrys, upturned nose, downslanting palpebral fissures, prominent vertical forehead crease, large anterior fontanelle, thick cranial vault with prominent Wormian bones along the lambdoid suture, microbrachycephaly; birth weight 3,430 g (−0.18 SD), height 48 cm (−0.75 SD), head circumference 34.5 cm (0 SD); latest weight 84.8 kg (+0.98 SD), height 142.7 cm (−4.6 SD), head circumferance 58 cm (+2 SD) ; None reported; Noisy breather and snores but not significant apnea; Mild sensorineural hearing loss; Brachydactyly, joint hypermobility (Beighton score 6/9), mild truncal hypotonia, osteopenic bones, immature ovoid appearance to the vertebral bodies of the thoracic and lumbar spine, narrowing of the T11/12 intervertebral disc space, mild shortening of the proximal humeri and metacarpals, hypoplasia of the distal phalanges of the toes, pes planus, limited extension of the right elbow, small hands and feet; Horseshoe kidney, mild coronal hypospadias (repaired), small genitalia; no GI reported; Strabismus, bilateral ptosis, gynecomastia, acanthosis nigricans, hirsutism AFF4 AFF4 1 1 Johan den Dunnen
00248377 patient 6 PubMed: Raible 2019 - F - - - - 0 - - NDD see paper; …, Mild Synophrys with prominent eyebrows, prominent eyelashes, bilateral proptosis, facial hirsutism, upturned nose, bitemporal narrowing, microcephaly, cupped ears with simple helices, high arched palate, and clubbing of nails, hands and feet; birth weight 1,474 (−3.34 SD), height 38 cm (−6.17 SD); latest weight 20.9 kg (−2 SD), height 93.8 cm (−5.9 SD), head circumferance 47 cm (−4.1 SD) ; VSD, congenital dilated aortic root, pulmonary hypertension; Subglottic stenosis, chronic lung disease and respiratory failure, tracheostomy, idiopathic pulmonary hemosiderosis, diffuse pulmonary alveolar hemorrhage, acute interstitial pneumonia; Bilateral sensorineural hearing loss; Absent left thumb (not congenital); Single kidney, sexual precocity; Nissen‐G tube, constipation, GERD; Astigmatism, otorrhea, optic nerve hypoplasia of left eye, intermittent exotropia, ptosis, chronic bilateral otitis media, hyperglycemia, polycythemia, steroid‐induced diabetes mellitus, iatrogenic adrenal insufficiency, prematurity AFF4 AFF4 1 1 Johan den Dunnen
00248378 patient 7 PubMed: Raible 2019 - F - - - - 0 - - NDD see paper; …, Synophrys, trace proptosis, small upturned nose with shallow bridge, prominent cheeks, macroglossia, micrognathia, bitemporal narrowing, and microcephaly; birth weight 2,239 g (−2.18 SD), height 43 cm (−2.98 SD), head circumference 29.5 cm (−3.7SD); latest weight 10.82 kg (−1.1 SD), height 73 cm (−4.1 SD), head circumferance 43.5 cm (−2.8 SD) ; PDA, PFO, dilated aortic root; History of pneumonia, chronic lung disease, chronic congestion and noisy breathing, acute chronic respiratory failure, subglottic narrowing of trachea; Mild conductive hearing loss; Disharmonic skeletal maturation of the hands; no genitourinary reported; G tube, dysphagia; Obstruction of nasolacrimal duct, chronic bilateral otitis media, sacral mass (removed), jaundice AFF4 AFF4 1 1 Johan den Dunnen
00248379 patient 8 PubMed: Raible 2019 - M - - - - 0 - - NDD see paper; …, Synophrys, coarse appearance to features; birth weight 2,070 g (−1.5 SD), height 43 cm (−1.9 SD), head circumference 29 cm (−3.23 SD); latest weight 10th centile, height 90 cm (−6.1SD), head circumferance 3rd centile; None reported; History of aspirations; Mixed hearing loss; Brachydactyly; no genitourinary reported; no GI reported; Mild myopia with strabismus, skin changes (sun exposed erythema and mottling of his skin) AFF4 AFF4 1 1 Johan den Dunnen
00248380 patient 9 PubMed: Raible 2019 - M - - - - 0 - - NDD see paper; …, Round face, brachiocephaly, microcephaly, long eyelashes, high arch eyebrows/curved, broad ICD, ears cupped and somewhat simplified; birth weight 1,170 g (−3.13 SD); latest weight 17.3 kg (−1.5 SD), height 88 cm (−5.7 SD), head circumferance 48 cm (−2.6 SD) ; PDA, PFO; Chronic lung disease due to apnea and aspirations, tracheostomy; Bilateral sensorineural hearing loss (improved); None reported; no genitourinary reported; G tube; Cataract, myopia, amblyopia, exophoria, growth hormone deficiency AFF4 AFF4 1 1 Johan den Dunnen
00248381 patient 10 PubMed: Raible 2019 - F - - - - 0 - - NDD see paper; …, Round face, synophrys, downturn corners of the mouth, curly hair, long eyelashes and thick eyebrows; birth weight 2,570 g (−1.1 SD), height 50 cm (+0.8 SD), head circumference 33 cm (+0.1 SD); latest weight 16 kg (−2.1 SD), height 98.5 cm (−4.7SD), head circumferance 47.6 cm (−1.9 SD) ; VSD; None reported; Bilateral conductive hearing loss; Brachydactyly; no genitourinary reported; G tube; Cataract, low lying conus with lipoma of the filum terminale AFF4 AFF4 1 1 Johan den Dunnen
00248382 patient 11 PubMed: Raible 2019 - M - - - - 0 - - NDD see paper; …, Round face, arched eyebrows, long philtrum, thin upper lip, low‐set posteriorly rotated ears; birth weight 1,560 g (−4.6SD, height 39 cm (−5.8 SD), head circumference 29 cm (−4.3 SD); latest weight 8.6 kg (−1.1 SD), height 66 cm (−4.1 SD), head circumferance 42 cm (−3.2 SD); None reported; Episodes of pneumonia and upper respiratory infection; Mixed bilateral hearing loss; Brachydactyly; small hands and feet, left fifth finger clinodactyly, single crease on left fifth finger, abnormal shape of vertebral bones, short iliac bones, small left femoral head; Short prepuce; History of constipation AFF4 AFF4 1 1 Johan den Dunnen
00260784 Pat5 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260785 Pat6 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260786 Pat8 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260787 Pat12 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260788 Pat13 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260789 Pat1 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260790 Pat16 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, mild POLR2A POLR2A 1 1 Johan den Dunnen
00260791 Pat4 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, moderate POLR2A POLR2A 1 1 Johan den Dunnen
00260792 Pat11 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, moderate POLR2A POLR2A 1 1 Johan den Dunnen
00260793 Pat10 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, moderate POLR2A POLR2A 1 1 Johan den Dunnen
00260794 Pat15 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, moderate POLR2A POLR2A 1 1 Johan den Dunnen
00260795 Pat9 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, severe POLR2A POLR2A 1 1 Johan den Dunnen
00260796 Pat14 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, severe POLR2A POLR2A 1 1 Johan den Dunnen
00260797 Pat2 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; …, severe POLR2A POLR2A 1 1 Johan den Dunnen
00260798 Pat7 PubMed: Haijes 2019 - F - - - - 0 - - NDD see paper; …, profound POLR2A POLR2A 1 1 Johan den Dunnen
00260799 Pat3 PubMed: Haijes 2019 - M - - - - 0 - - NDD see paper; … POLR2A POLR2A 1 1 Johan den Dunnen
00260807 Pat1 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260808 Pat2 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260809 Pat3 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260810 Pat4 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260811 Pat5 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260812 Pat6 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260813 Pat7 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260814 Pat8 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260815 Pat9 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260816 Pat10 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260817 Pat11 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260818 Pat12 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260819 Pat13 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260820 Pat14 PubMed: Snijders Blok 2019 - F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260821 Pat15 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260822 Pat16 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260823 Pat17 PubMed: Snijders Blok 2019 - M - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00260824 Pat18 PubMed: Snijders Blok 2019 family, affected mother/daughter F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 2 Johan den Dunnen
00260825 Pat19 PubMed: Snijders Blok 2019 daughter F - - - - 0 - - NDD see paper; … POU3F3 POU3F3 1 1 Johan den Dunnen
00266184 F208PatIV2 PubMed: Ansar 2019 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F - Pakistan - - 0 - - NDD short stature (146cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; low vision IQSEC1 IQSEC1 1 4 Johan den Dunnen
00266185 F208PatIV6 PubMed: Ansar 2019 - F - Pakistan - - 0 - - NDD short stature (150cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; lower limbs weakness IQSEC1 IQSEC1 1 1 Johan den Dunnen
00266186 Fam2PatV-1 PubMed: Ansar 2019 5-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives M - Saudi Arabia - - 0 - - NDD short stature (120cm), head circumference 48cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; multiple hyperpigmented café au lait spots in his lower back and upper thigh, truncal ataxia and ataxic gait with frequent falls IQSEC1 IQSEC1 1 4 Johan den Dunnen
00266187 Fam2PatV-6 PubMed: Ansar 2019 - M - Saudi Arabia - - 0 - - NDD short stature (148cm), head circumference 53cm (50th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour aggressive, ADHD and hyperactivity; MRI normal; unsteady gait IQSEC1 IQSEC1 1 1 Johan den Dunnen
00266188 Fam2PatV-8 PubMed: Ansar 2019 - M - Saudi Arabia - - 0 - - NDD short stature (119cm), head circumference 49cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; unsteady gait IQSEC1 IQSEC1 1 1 Johan den Dunnen
00269814 Fam1PatIV3 PubMed: Dias 2019 - F yes Iran - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269815 Fam2PatIV2 PubMed: Dias 2019 - M yes Iran - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269816 Fam2PatIV3 PubMed: Dias 2019 - F yes Iran - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269817 Fam3PatIV2 PubMed: Dias 2019 - F yes Iran - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269818 Fam4PatII2 PubMed: Dias 2019 - M - Mexico - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; seizures; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269819 Fam5PatIV2 PubMed: Dias 2019 - M yes Turkey - - 0 - - NDD intellectual disability/global developmental delay; motor delay; no hyperactivity; -; hypotonia in infancy; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269820 Fam5PatIV4 PubMed: Dias 2019 - F yes Turkey - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269821 Fam5PatIV5 PubMed: Dias 2019 - M yes Turkey - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; no screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00269822 Fam6PatIV2 PubMed: Dias 2019 - M yes Egypt - - 0 - - NDD intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; no screaming/laughing spells; no self-injury/hand-biting; no bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms NTNG2 NTNG2 1 1 Caroline Dias
00275891 Pat1 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-1y10m; fine motor delay; first words-24m; speech three word sentences; received speech/language therapy; initially dfficulties with repeating words, good understanding; can now very well communicate his wishes; developmental delay; autistic features; no ADHD/ADD; open towards others, sometimes difficult behaviour with temper tantrums in stress, hand-flapping; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; poor in motion transitions. Inward rotation of the feet when walking, slightly broad based; high forehead with frontal bossing; widely spaced eyes; normal teeth; high arched palate; no neonatal issues; normal vision; normal hearing; normal heart; orchidopexia performed; Hyperlaxity of all major joints; loves to eat, needs to be controlled by parents, intermittend hyperphosphatesia, CHD3 CHD3 1 1 Johan den Dunnen
00275892 Pat2 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y7m; fine motor delay; speech babbles only, uses some signs; received speech/language therapy; babbles only, some signs,receptive language is strong: knows letters, numbers, shapes, colors, has some sign language; developmental delay, probably normal intelligence with speech delay; no autism/autistic features; no ADHD/ADD; Happy, social, engaged with others. Affectionate, friendly, described as endearing. Good disposition. Sensory issues to loud noise, bright lights, swings; normal weight; normal height; macrocephaly; MRI-brain thin corpus callosum; no wide CSF spaces; hypotonia; no epilepsy, no seizures; broad based gait with arms flexed. slight external rotation of both lower extremities; high forehead with frontal bossing; no widely spaced eyes; normal teeth; high arched palate; one neonatal episode of hypoglycemia; hypermetropia; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; Hypotonia in legs; Brown syndrome, laryngeal cleft, patch of tan discloration of skin on back of neck and mid-back, obstructive sleep apnea CHD3 CHD3 1 1 Johan den Dunnen
00275893 Pat3 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-2y6m; fine motor delay; first words-1y6m; speech complete sentences; received speech/language therapy; speech/language delay; Borderline intellectual disability (verbal IQ 87, performance IQ 78); no autism/autistic features; attention deficit without hyperactivity; No other behavioral problems; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; dystonia, broad based gait; prominent forehead with frontal bossing; widely spaced eyes; teeth malposition; high arched palate; no neonatal issues; convergent strabism, astigmatism, hypermetropia; hyperacusis; normal heart; normal kidneys; no hernias; Joint hyperlaxity, adducted thumbs; pneumonitis, pyelonephritis CHD3 CHD3 1 1 Johan den Dunnen
00275894 Pat4 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; no walking yet; fine motor delay; first words-1y6m; speech 3-4 words; received speech/language therapy; expressive speech delay. Receptive speech appears normal; developmental delay; no autism/autistic features; bruxism; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain subgaleal hematoma, no other abnormalities; no wide CSF spaces; hypotonia; no epilepsy, no seizures; normal; normal forehead; widely spaced eyes; missing maxillary lateral incisors; normal palate; neonatal cephalohematoma; congenital entropion; conductive hearing loss; normal heart; normal kidneys; left testis initially undescended, now retractile. webbing between penis and scrotum; no hernias; no skeletal anomalies, no joint anomalies; Sleep apnea. non-pitting edema in feet CHD3 CHD3 1 1 Johan den Dunnen
00275895 Pat5 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; no walking yet; fine motor delay; no speech; did not receive speech/language therapy; no speech; severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; weight <-2.5 SD; height <-2.5 SD; microcephaly; MRI-brain normal (except for microcephaly); no wide CSF spaces; hypotonia; no epilepsy, no seizures; spastic tetraplegia; sloping forehead; widely spaced eyes; large teeth; normal palate; neonatal feeding problems, PEG tube; normal vision; normal hearing; normal heart; normal kidneys; no hernias; severe orthopedic problems hip, feet. Luxations of thumbs, wrists, shoulders on young age, not anymore; unilateral choane atresia + hypoplastic epilglottis. Siallorhea requiring botox and radiotherapy. CHD3 CHD3 1 1 Johan den Dunnen
00275896 Pat6 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; fine motor delay; first words-2y; speech complete sentences; received speech/language therapy; language production and reception impaired; Mild intellectual disability (IQ 58); PDD-NOS; no ADHD/ADD; Flapping, hyperactive and claiming behaviour. Stereotypic movements; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; neonatal convulsions; abnormal gait; broad forehead, frontal bossing; widely spaced eyes; taurodontia, delayed changing into adult dentition; normal palate; neonatal feeding problems; cerebral visual impairment, nystagmus, strabism, hypermetropia; normal hearing; normal heart; normal kidneys; no hernias; joint hyperlaxity; drooling until 8y, high pain treshold, sleeping problems. V-shaped sacral crease CHD3 CHD3 1 1 Johan den Dunnen
00275897 Pat7 PubMed: Snijders Blok 2018 2-generation family, affected sister/brother (mother mosaic) F - - - - 0 - - NDD global developmental delay; walk-3y; fine motor delay; first words-4y; speech impaired intelligibility, high pitched voice; not known; intellectual disability (level unknown); mild autistic features; normal weight; normal height; macrocephaly; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; high arched and narrow palate; no neonatal issues; hypermetropia; normal hearing; normal heart;; CHD3 CHD3 1 2 Johan den Dunnen
00275898 Pat8 PubMed: Snijders Blok 2018 brother M - - - - 0 - - NDD global developmental delay; walk-2y; fine motor delay; first words-3-4y; not known; Mild intellectual disability (IQ 62); mild autistic features; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; no; prominent forehead; no widely spaced eyes; high arched and narrow palate; no neonatal issues; hypermetropia; normal hearing; normal heart;; CHD3 CHD3 1 1 Johan den Dunnen
00275899 Pat9 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-1y10m; fine motor delay; first words-1y2m; speech sentences; received speech/language therapy; no formal diagnosis besides globally delayed, sentences are mostly intelligible; developmental delay; no autism/autistic features; no ADHD/ADD; No major behavior problems, sometimes struggles with emotions and gets upset/frustrated; normal weight; normal height; macrocephaly; MRI-brain cortical abnormalities suggestive for cortical dysgenesis, mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; broad forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no hernias; hyperlaxity in elbows, ankles, and knees; One café au lait spot CHD3 CHD3 1 1 Johan den Dunnen
00275900 Pat10 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-3y6m; speech 10 words; moderate intellectual disability; normal weight; normal height; macrocephaly; no wide CSF spaces; no epilepsy, no seizures; irregular broad based gait; prominent forehead; widely spaced eyes; no neonatal issues; normal heart;; CHD3 CHD3 1 1 Johan den Dunnen
00275901 Pat11 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-1y6m; first words-4y; normal language development; moderate intellectual disability; no autism/autistic features; no ADHD/ADD; no particular behavioral problems; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; no; conical left upper incisor; no neonatal issues; hypermetropia; normal hearing; normal heart;; CHD3 CHD3 1 1 Johan den Dunnen
00275902 Pat12 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-2y; fine motor delay; first words-2y; speech sentences; received speech/language therapy; Issues with speech enunciation, hypernasal voice, occasional stuttering. Impaired language on all subcompoinents of CELF4; Moderate intellectual disability; autistic features; no ADHD/ADD; Frequently puts objects in her mouth. Easily distractable and constantly needs to keep her hands busy and mind busy. Some hand-flapping and hopping on both feet, when excited; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; Issues with balance, coordination; prominent forehead; widely spaced eyes; Crowded teeth - extensive dental history, instance of no permanent teeth under a decidious tooth; high arched palate with bifid uvula; caesarian section for fetal decelerations and oligohydramnios; myopia, astigmatism, strabism; normal hearing; normal heart; normal kidneys; no hernias; hyperlordosis of lumbar spine. Hypermobile flat feet; anteriorly placed anus, chronic and recurrent upper respiratory infections; increased subcutaneous adipose tissue deposition, copious saliva production evident from birth onwards, possible impairment of thirst; low hematocrit in childhood with normal hemoglobin level and MCV CHD3 CHD3 1 1 Johan den Dunnen
00275903 Pat13 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y; speech sentences; severe delay, yet verbal skills scored as relative strength; Mild intellectual disability; no autism/autistic features; no ADHD/ADD; normal weight; normal height; macrocephaly; MRI-brain encephalomalacia left temporal and parietal lobes; no wide CSF spaces; no epilepsy, no seizures; Parkinsonism since 1-2 years, resting/pill-rolling tremor, progressive weakness, swallowing difficulties, long standing equinovarus posturing of one foot; tall forehead; no widely spaced eyes; normal palate; normal vision; normal heart; normal kidneys; no male genital abnormalities; no hernias; equinovarus and high arched foot (only left); Recently volvulus with colonic ischemia. Ptosis. CHD3 CHD3 1 1 Johan den Dunnen
00275904 Pat14 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-1y2m; fine motor delay; first words-2y8m; speech short sentences; received speech/language therapy; Receptive language better than speech production; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain thin corpus callosum; no hypotonia; no epilepsy, no seizures; mild unsteady gait; high forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; CHD3 CHD3 1 1 Johan den Dunnen
00275905 Pat15 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-1y6m; fine motor delay; Speech delay; Mild intellectual disability; normal weight; normal height; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; not known; underbite; normal vision; aortic dilatation; undescended testes, orchidopexy performed; primary hypogonadism, malar hypoplasia. Also de novo mutation in CIC gene: NM_015125.3:c.1444G>T; p.(Glu482*) CHD3 CHD3 1 1 Johan den Dunnen
00275906 Pat16 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-5y; fine motor delay; first words-4y; speech 20 single words; received speech/language therapy; Speech and language delay, particularly expressive; severe intellectual disability; no autism/autistic features; no ADHD/ADD; no behavioral abnormalities, sociable; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; broad forehead; widely spaced eyes; normal teeth; submucous cleft palate; neonatal stridor, jaundice, feeding problems; hypermetropia; ear tubes; normal heart; normal kidneys; no hernias; Pes planus and laxiity of large joints; V-shaped sacral crease CHD3 CHD3 1 1 Johan den Dunnen
00275907 Pat17 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; no walking yet; fine motor delay; no first words yet; no speech; did not receive speech/language therapy; Has not started speaking yet, uses melodic vocalization; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; Very attentive, pleasant social behaviour. Since age 8m recurrent oculogyral crisis and episodes of sudden movement (thrusting upward of the thorax). Also recurrent "shuddering" when emotional; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces, bilateral cerebral atrophy, bifrontal hygromas; wide CSF spaces; hypotonia; pathological EEG at age 8m, recent EEG unremarkable (without therapy); episodes of spontaneous movement (before truncal upthrust and oculogyral crisis, now emotional head "shuddering"; frontal bossing; widely spaced eyes; normal teeth; normal palate; neonatal respiratory distress after RSV infection, ICU for 2d; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; multiple skin creases on left posterior thigh CHD3 CHD3 1 1 Johan den Dunnen
00275908 Pat18 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-3y6m; fine motor delay; first words-1y3m-1y11m; speech repetitive and echolalic; received speech/language therapy; Moderate intellectual disability (IQ 43); no autism/autistic features; no ADHD/ADD; Some OCD-like behavior, some nervous mannerisms, routine oriented; normal weight; normal height; macrocephaly; no hypotonia; no epilepsy, no seizures; Somewhat wide-based, unsteady gait and feet slightly turned in while walking; normal forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, amblyopia; normal hearing; normal heart; normal kidneys; no hernias; Mild scoliosis, thoracic kyphosis, and somewhat exaggerated lumbar lordosis. Mild cubitus valgus of upper extremities; Some dysfunctional uterine bleeding. CHD3 CHD3 1 1 Johan den Dunnen
00275909 Pat19 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-4y; fine motor delay; first words-7y; speech only a few words; received speech/language therapy; severe language disorder (expressive and receptive); Severe intellectual disability; no autism/autistic features; timid; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress, feeding problems; vision refractive error; ear tubes; normal heart; normal kidneys; no hernias; pectus chest deformity, joint hypermobility,; hypertrichosis CHD3 CHD3 1 1 Johan den Dunnen
00275910 Pat20 PubMed: Snijders Blok 2018 2-generation family, affected twin sisters F - - - - 0 - - NDD global developmental delay; walk-4y; fine motor delay; first words-4y; speech short sentences, hoarse voice; received speech/language therapy; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; delayed visual maturation; prominent forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, strabism, cerebral visual impairment; normal hearing; Atrial septal defect, Pulmonic valve stenosis; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; CHD3 CHD3 1 2 Johan den Dunnen
00275911 Pat21 PubMed: Snijders Blok 2018 twin sister F - - - - 0 - - NDD global developmental delay; walk-4y; fine motor delay; first words-5y; speech short sentences, hoarse voice; received speech/language therapy; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; delayed visual maturation; high forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, strabism, cerebral visual impairment; normal hearing; normal heart; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; Sagittal craniosynostosis, constipation CHD3 CHD3 1 1 Johan den Dunnen
00275912 Pat22 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y6m; fine motor delay; first words-4y; speech sentences; received speech/language therapy; severe verbal apraxia; moderate oral apraxia; moderate receptive and expressive language disorder; mild stuttering disorder. Impaired intelligibility; Borderline intellectual disability (total IQ 72); no autism/autistic features; ADD; very sociable, hyperactive; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; tall and boxy forehead with dimpling; widely spaced eyes; normal teeth; narrow palate; small oral cavity; no neonatal issues; normal vision, wears glasses; ear tubes; normal heart; normal kidneys; Undescended testes; inguinal hernia; no skeletal anomalies, no joint anomalies; 3 cafe au lait spots. Thin and concave toenails. Thin fingernails. Lateral right-side hair whorl. Skin syndactyly of toes (2-3). CHD3 CHD3 1 1 Johan den Dunnen
00275913 Pat23 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y; fine motor delay; no first words yet; speech no words currently, vowel sounds/babbling; received speech/language therapy; Expressive language more impaired than expressive language, can follow simple instructions; developmental delay; no autism/autistic features; no ADHD/ADD; very happy, social personality; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; high forehead with frontal bossing; widely spaced eyes; enamel hypoplasia; normal palate; neonatal respiratory distress, had to be resuscitated, in NICU for 2d; vision slight refractive error, exotropia; normal hearing; normal heart; normal kidneys; Undescended testes, hypospadias,"hidden penis"; inguinal hernia; joint hyperlaxity, wears ankle foot orthoses; abnormal bladder shape on MRI CHD3 CHD3 1 1 Johan den Dunnen
00275914 Pat24 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y6m; fine motor delay; speech sentences, often not accurately constructed; received speech/language therapy; delayed speech/language development, formal diagnosis not known; developmental delay; autistic features; active, difficulty to gain attention; normal weight; normal height; no macrocephaly, no microcephaly; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; frontal bossing; normal teeth; normal palate; neonatal feeding problems; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; ingunial hernia; no skeletal anomalies, no joint anomalies; CHD3 CHD3 1 1 Johan den Dunnen
00275915 Pat25 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-4y; fine motor delay; first words-4y; speech sentences; received speech/language therapy; speech difficulties; mild intellectual disability; no autism/autistic features; short attention span; very sociable, friendly; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; high forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress and feeding problems; exophoria; normal hearing; normal heart; normal kidneys; no hernias; joint hyperlaxity; livedo CHD3 CHD3 1 1 Johan den Dunnen
00275916 Pat26 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-4y; fine motor delay; no first words yet; speech single word vocalizations, signs and a communication device; received speech/language therapy; predominantly vocalizations and some word approximations. Uses communication device; Moderate intellectual disability; repetitive behaviors, hand flapping, head banging; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces, mildly prominent perivascular spaces in periatrial white matter; wide CSF spaces; hypotonia; no epilepsy, no seizures; poor balance,; high forehead and minimal frontal bossing; no widely spaced eyes; upper central diastema; normal palate; no neonatal issues; has glasses; normal hearing; normal heart; both testes descended, but left testes high in scrotal sac; hiatal hernia; no skeletal anomalies, no joint anomalies; minor pigment variation and eczema. history of reactive airway disease/asthma. Reflux and esophagitis. CHD3 CHD3 1 1 Johan den Dunnen
00275917 Pat27 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-1y8m; fine motor delay; first words-13m; speech short sentences; received speech/language therapy; No specific speech or language problems; Mild-Moderate intellectual disability; no autism/autistic features; short attention span; friendly, good social behaviour; normal weight; height >+2.5 SD; macrocephaly; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; arched palate; no neonatal issues; strabism; normal hearing; normal heart; normal kidneys; no male genital abnormalities; umbilical hernia (neonatal period); no skeletal anomalies, no joint anomalies; wide mamillary distance, increased sweating CHD3 CHD3 1 1 Johan den Dunnen
00275918 Pat28 PubMed: Snijders Blok 2018 - F - - - - 0 - - NDD global developmental delay; walk-3y; fine motor delay; first words-21m; speech short sentences; received speech/language therapy; Dysfluent, stammering, impaired intelligibility; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; sociable; weight <-2.5 SD; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; broad forehead; widely spaced eyes; normal teeth; normal palate; emergency caesarian section for fetal distress, pneumothorax, NICU for 1 week, feeding problems that required tube feeding; Impaired depth perception; normal hearing; Perimembranous VSD, right ventricular outflow tract muscle resection; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; V shaped sacral crease CHD3 CHD3 1 1 Johan den Dunnen
00275919 Pat29 PubMed: Snijders Blok 2018 - M - - - - 0 - - NDD global developmental delay; walk-2y5m; fine motor delay; first words-13m; speech sentences; received speech/language therapy; at 29 mnts 4 word sentences, 'smart talking'. Speech production more impaired than receptive language. Impaired intelligibility. High pitched voice; Mild intellectual disability (IQ 73); PDD-NOS; no ADHD/ADD; no behavioral issues; normal weight; normal height; macrocephaly; CT-scan widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; developmental coordination disorder; prominent forehead; widely spaced eyes; normal teeth; normal palate; short stay in NICU because of moaning. Feeding problems; hypermetropia; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; hypermobility, no dislocations; Extensive drooling. CHD3 CHD3 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »