All individuals with variants in gene CNOT1

46 entries on 1 page. Showing entries 1 - 46.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00019840 - PubMed: Gilissen 2014 - ? ? - - - - - - ID - 1 1 Marianne Vos (LOVD-team)
00305515 Individual 1 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth at term, weight 3100 (normal), OFC 34 (normal); height 125 (-3.8 SD), weight 24.5 (-2.1 SD), OFC 51.9 (normal); intellectual disability IQ79; developmental delay; motor delay (mild); speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder, obsessive compulsive disorder; sleep disturbances; facial abnormalities; dysphagia/feeding difficulties; dust mite allergy; GH deficit. Treated with GH: 'Flat feet, billateral pes valgus; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305516 Individual 2 PubMed: Vissers 2020 2-generation family, 1 affected, maternal mosaicism M - - - - - - - NDD birth 39w, weight 2610 (<-2 SD), OFC 35 (normal); height 118 (-2.5 SD) growth hormone treatment, weight 22.4 (normal), OFC 53 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; hypotonia; attention deficit hyperactivity disorder, aggressive behavior, impulsivity; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Unilateral testicular ectopia; Partial growth hormone deficit, treated with growth hormones; Hygroma coli, delayed bone age; no hearing abnormalities; Glaucoma, severe myopia; Hypertrichosis, delayed teeth eruption; High pitched voice; MRI-brain no holoprosencephaly 1 1 Johan den Dunnen
00305517 Individual 3 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 37+0w, weight 3374 (normal); , weight 17.6 (normal), OFC 51 (normal); mild intellectual disability; developmental delay; motor delay; no speech delay; -; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Ankle valgus; no hearing abnormalities; Strabismus (surgical correction); ptosis (surgical correction); Two large café au lait macules; Pes planus; Cleft palate 1 1 Johan den Dunnen
00305518 Individual 4 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD NA, weight 2300 (<-2.0 SD); height 135 (<-2.0 SD), weight 32 (<-2.0 SD); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities 1 1 Johan den Dunnen
00305519 Individual 5 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 37w, weight 3286 (normal); height 156.5 (-2.7 SD), weight 68.9 (normal), OFC 62 (+2.7 SD); mild intellectual disability; developmental delay; motor delay; no speech delay; no dysarthria; epilepsy, iIntermittent shaking R side of body, EEG-abnormal activity in temporal area L; hypotonia; no spasticity; no ataxia; autism spectrum disorder, obsessive compulsive disorderno behavioral disturbanceslike, difficulties social behavior; no sleep disturbances; facial abnormalities; G-tube feeding until age 16; Mild central obesity; No clinodactyly; Poor fine motor skills; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305520 Individual 6 (daughter) PubMed: Vissers 2020 2-generation family, affected mother/daugther F - - - - - - - NDD birth 35w, weight 2560 (normal); height 131.5 (-2 SD), weight 34 (normal), OFC 54.5 (normal); learning disabilities; developmental delay; motor delay (sitting at 12 months, walking at 20 months); speech delay; no dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; attention deficit disorder; Frequent nightmares; facial abnormalities; no dysphagia/feeding difficulties; Ovoid shape of lumbar vertebrae; no hearing abnormalities; no vision abnormalities; Hypertrichosis; normal hands, normal feet; MRI-brain normal, no holoprosencephaly 1 2 Johan den Dunnen
00305521 Individual 7 (mother) PubMed: Vissers 2020 mother F - - - - - - - NDD birth at term, weight 3660 (normal); height 152 (-2 SD), weight 74 (+3.39 SD), OFC 56 (normal); learning disabilities; developmental delay; motor delay (walking 20 months); no speech delay; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; Frequent nightmares; facial abnormalities; no dysphagia/feeding difficulties; no hearing abnormalities; no vision abnormalities; Hypertrichosis; normal hands, normal feet 1 1 Johan den Dunnen
00305522 Individual 8 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 40w, weight 2863 (normal), OFC 34.9 (normal); height 147.5 (<-2 SD), weight 42.5 (<-2 SD), OFC normal; intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit hyperactivity disorder/autism spectrum disorder/anxiety, bipolar disorder, obsessive compulsive disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; dysphagia/feeding difficulties; no pulmomal abnormalities; Food and environmental allergies; no endocrine abnormalities; Possible segmentation anomaly of C2-C3; no hearing abnormalities; no vision abnormalities; Birth mark lower back (tanned, slightly depressed, 4x0.8cm), multiple additional teeth ; Short 4th metacarpal L; MRI-brain no holoprosencephaly, Arachnoid cysts 1 1 Johan den Dunnen
00305523 Individual 9 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 37+5w, weight 3685 (normal), OFC 34 (normal); height 140.5 (-2.3 SD), OFC 55.6 (normal); no intellectual disability; no developmental delay; motor delay; no speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; autism spectrum disorder, obsessive compulsive disorder, attention deficit hyperactivity disorder; no sleep disturbances; facial abnormalities 1 1 Johan den Dunnen
00305524 Individual 10 PubMed: Vissers 2020 2-generation family, 1 affected, adopted F - - - - - - - NDD birth at term, weight 3530 (normal); height 133.6 (normal) growth hormone treatment, weight 25 (normal), OFC 53.4 (normal); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; epilepsy, mildly abnormal EEG; hypotonia; no spasticity; ataxia; Repetitive behavior, self mutilation, sensory processing problems, episodes of rocking/head banging; Severe: can go without sleep for days, sleeps 3no sleep disturbances5 hours in a night; facial abnormalities; Still's murmur, 1st degree AV block, enlarged coronary sinus suggestive of persistent LSVC (hemodynamically insignificant); Nocturnal incontinence, overactive bladder; Constipation; no pulmomal abnormalities; Raspberry and seasonal allergy, frequent fevers and vomiting; Growth hormone therapy; Bowing of legs, hyperextensible legs, general hypermobility, long neck, removal of benign cyst from neck, able to dislocate jaw, bruises very easily; no hearing abnormalities; Esotropia, hypermetropia of both eyes; Hirsutism, delayed dentition, all toenails mildly dysplastic, hypoplasia of 5th toenail bilaterally; Tapered fingers, pes planus bilaterally; Regression of speech and motor milestones; MRI-brain no holoprosencephaly, L frontal lobe grey matter heterotopia 1 1 Johan den Dunnen
00305525 Individual 11 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - 1d - - - NDD birth 38+1w, weight 2590 (normal), OFC 34 (normal); 1d-deceased (respiratory failure)y; facial abnormalities; L ventriculomegaly + persistent ductus botalli; Flat and hypoplastic labia majora; Hepatomegaly, nonspecific, small solid liver lesion (L), echogenic, possible fatty pancreas, possible adrenal mass or hemorrhage R ; Deceased on first day of life due to respiratory failure, small lungs; Artrogryposis, gracile, elongated long bones and multiple fractures. Dislocated hips with deep dimples on lateral aspects; Naevus flammeus (nose/eyelids). Hypertrichosis extremities. Lower leg skin indentation suggestive of cord wrapping. Nails normal.; Small hands, tapered fingers, camptodactyly. Absent palmar creases R, thumb adducted R. 5th finger distal phalanges hypoplastic. Small feet, bilaterally deformed, probable L club foot. Toes small and flexion contractures.; Maternal chlamydia infection GA 10 weeks; MRI-brain no holoprosencephaly, Slight ventriculomegaly 1 1 Johan den Dunnen
00305526 Individual 12 PubMed: Vissers 2020 2-generation family, 1 affected F - - - - - - - NDD birth 39+4 w, weight 2400 (<-2.5 SD), OFC 37 (normal); height Normal, weight Normal, OFC (+3.0 SD); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Tendency to chew long time before swallowing; Late ossification of anterior fontanel; Hyperkinesia; MRI-brain no holoprosencephaly, Abnormal corpus callosum with hypertrophic anterior part and thin posterior part, Virchow Robin 1 1 Johan den Dunnen
00305527 Individual 13 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 36+3w, weight 2240 (normal); height 134.6 (normal), weight 24.9 (normal), OFC 54.2 (normal); intellectual disability; developmental delay; motor delay (poor head control, delayed milestones, however walking 15no motor delay16 months); speech delay (first words at 26 months, at age 2.5 15 words vocabulary); no dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; no behavioral disturbances; OSA, on continuous positive airway pressure; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; Failure to thrive, poor weight gain; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no skeletal, muscle and soft tissue abnormalities; Conductive hearing loss, eustachian tube dysfunction; Papilledema; no ectodermal abnormalities; Single transverse palmar crease R; Idiopathic intracranial hypertension; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305528 Individual 14 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 37w, weight 2710 (normal); height 89 (normal), weight 13 (normal), OFC 51 (normal); intellectual disability; developmental delay; motor delay; speech delay; no epilepsy, febrile seizures, EEG-no epileptic activity; hypotonia; Self injurious behaviour, head banging; facial abnormalities; no dysphagia/feeding difficulties; Hearing aids; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, some aspecific white matter abnormalities 1 1 Johan den Dunnen
00305529 Individual 15 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 37w, weight 2130 (normal), OFC 27.5 (normal); height 72 (-3 SD), weight 5.6 (-5.6 SD), OFC 34.4 (-9 SD); severe intellectual disability; developmental delay (severe); motor delay (severe); speech delay (severe); dysarthria (severe); epilepsy, one epileptic episode; hypotonia; no spasticity; no ataxia; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no dysphagia/feeding difficulties; MRI-brain no holoprosencephaly, severe microcephaly, pachygyria 1 1 Johan den Dunnen
00305530 Individual 16 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 38w, weight 3230 (normal); height 170 (normal), weight 48 (normal), OFC 52.3 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Flat feet, unilateral hip dysplasia; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Single transverse palmar crease; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305531 Individual 17 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 36w, OFC; height 93.4 (normal), weight 14.3 (normal), OFC 54 (normal); no intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Coarctatio aortae; no dysphagia/feeding difficulties; no hearing abnormalities; no vision abnormalities; Hemangioma on occiput; Clinodactyly 1 1 Johan den Dunnen
00305532 Individual 18 (son) PubMed: Vissers 2020 2-generation family, affected mother/son M - - - - - - - NDD birth 37+6w, weight 2725 (normal), OFC 33.4 (normal); height 96 (<-2 SD), weight 16 (normal), OFC 48.8 (<-2 SD): developmental delay; no motor delay; speech delay; dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; Low frustration tolerance; no sleep disturbances; facial abnormalities; Hypoplastic L heart + Ascending Aorta hypoplasia; Prenatal nephromegaly; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Bilateral ungual hypoplasia + brachydactyly of 5th fingers, overlapping toe; MRI-brain no holoprosencephaly, Discrete bilateral enlargement subarachnoid spaces, presumably due to transient defective absorption of CSF 1 2 Johan den Dunnen
00305533 Individual 19 (mother) PubMed: Vissers 2020 mother F - - - - - - - NDD birth 41w, OFC; height 155 (normal), OFC 54 (normal); learning disability, borderline cognitive function; developmental delay; motor delay; speech delay (speech therapy childhood); no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet 1 1 Johan den Dunnen
00305534 Pat1;Individual 20 PubMed: Kruszka 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., birth 35w, OFC; Microcephaly; developmental delay; motor delay; speech delay; no epilepsy, Isolated seizure associated with fentanyl administration, normal EEG; hypotonia; facial abnormalities; Pancreatic exocrine deficiency treated with enzyme therapy; Pancreatic insufficiency: neonatal diabetes mellitus requiring insulin therapy; Bilateral conductive and sensorineural hearing loss (R>L), CT scan showed ossicle anomalies; no vision abnormalities; Intrauterine growth restriction; MRI-brain semilobar 1 1 Johan den Dunnen
00305535 Pat2;Individual 21 PubMed: Kruszka 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD see paper; ..., birth at term, OFC; Microcephaly; developmental delay; motor delay; no epilepsy; hypotonia; spasticity; facial abnormalities; No diabetes mellitus, no diabetes insipidus; Sensorineural hearing loss; no vision abnormalities; MRI-brain semilobar 1 1 Johan den Dunnen
00305536 Pat3;Individual 22 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 39w, weight 1900 (<-3 SD); no intellectual disability; no developmental delay; no motor delay; no speech delay; no dysarthria; facial abnormalities; Exocrine pancreatic insufficiency, agenesis of pancreas, transient elevated liver enzymes; Diabetes mellitus (diagnose 3 weeks), agenesis of pancreas; Facial appearance could be consistent with holoprosencephaly 1 1 Johan den Dunnen
00305537 Pat1;Individual 23 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected F - - - - - - - NDD see paper; ..., birth 38+4w, weight 1340 (<-3 SD), OFC 30 (-3 SD); height 87 (3;1yrs -2 SD), 152.2 (13y9m normal with growth hormone treatment), weight 11.6 (3y1m; normal), 55 (13y9m; normal); developmental delay (mild); epilepsy, 3y-complex focal seizures; facial abnormalities; no cardiac abnormalities; Agenesis of pancreas: exocrine pancreatic insufficiency, transient elevation of liver function test, agenesis of galbladder; Agenesis of pancreas: diabetes mellitus (age day 1 at diagnosis), on growth hormone therapy; Muscle weakness neonatal period; Intrauterine growth retardation; MRI-brain partial/lobular, see PMID 31006513: dysplastic frontal horns of lateral ventricles, absent septum pellucidum, hypoplasia of corpus callosum 1 1 Johan den Dunnen
00305538 Pat2;Individual 24 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - 00y00m87d - - - NDD see paper; birth 38w, weight 1100 (<-3 SD); 87d-deceased; no epilepsy; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; Exocrine pancreatic insufficiency (2nd week of life), complete agenesis of pancreas and gallbladder: Diabetes mellitus on day 1, complete agenesis of pancreas; Dystrophic appearance, prominent sternum; abducted thumbs; Intrauterine growth retardation; MRI-brain semilobar, postmortem brain findings see PMID: 28525974, summarizing: polymicrogyria, fusion frontal lobes, absent corpus callosum 1 1 Johan den Dunnen
00305539 Individual 25 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 39w, weight 3033 (normal), OFC 35 (normal); height 131 (normal), weight 40 (normal), OFC 50 (normal); severe intellectual disability; developmental delay; motor delay; speech delay (severe); dysarthria; epilepsy, Lennox-Gastaut; hypotonia (in infancy); no spasticity; ataxia; autism spectrum disorder, aggresive behavior; Snoring; facial abnormalities; no cardiac abnormalities: NA; dysphagia/feeding difficulties: NA: NA: NA; Brownish enamel of secondary teeth: MRI-brain no holoprosencephaly, Arnold Chiari (surgery 14 months) 1 1 Johan den Dunnen
00305540 Individual 26 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 38w, weight 2890 (normal), OFC 33.5 (normal); height 174 (normal), weight 86 (normal), OFC 59.5 (normal); intellectual disability; no developmental delay; no motor delay; no speech delay; no dysarthria; no epilepsy; no hypotonia; spasticity; no ataxia; Encopresis; no sleep disturbances; facial abnormalities; no dysphagia/feeding difficulties; Choreadystonia; MRI-brain no holoprosencephaly, agenesis corpus callosum 1 1 Johan den Dunnen
00305541 Individual 27 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 39w, weight 3200 (normal); height 114 (normal), OFC 50 (normal); intellectual disability IQ50; developmental delay; no motor delay; speech delay (severe); NA (absent speech); no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, attention deficit hyperactivity disorder, obsessive compulsive disorderno behavioral disturbanceslike, overeating, dysphoria, stereotypy; sleep disturbances; no facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; No allergies; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; Eczema; normal hands, normal feet; Toe walker 1 1 Johan den Dunnen
00305542 Individual 28 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 38+5w, weight 3250 (normal), OFC 34.3 (normal); height 101.5 (normal), weight 17 (normal), OFC 53 (normal); developmental delay; no motor delay; speech delay (mixed receptive/expressive language impairment); no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, motor stereotypies; feeding difficulties; no sleep disturbances; no facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; Mild dysphagia/feeding difficulties, no G-tube; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet; Hyperkinesia, abnormal acceleration of growth (length/OFC); birth parameters ~30th centile, currently at ~+1.9 SD; MRI-brain normal, no holoprosencephaly 2 1 Johan den Dunnen
00305543 Individual 29 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 40w, weight 3480 (normal); height 181 (+2.0 SD), weight 84 (normal), OFC 58 (normal); intellectual disability IQ70; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy, subclinical EEG abnormalities in past; no hypotonia; no spasticity; no ataxia; social-emotional problems; Sleep disturbances related to stress, uses melatonine; facial abnormalities; Bicuspid aortic valve with mild stenosis; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Mild scoliosis; no hearing abnormalities; no vision abnormalities; Thin hair; Big feet (size 45-46), volar pads, clinodactyly 4th + 5th toes; Easily fatigued; MRI-brain no holoprosencephaly, Rathkes cleft remnant 1 1 Johan den Dunnen
00305544 Individual 30 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 39w, weight 2693 (normal); height 88.9 (-5 SD), weight 13.3 (-4 SD), OFC 48.3 (normal); severe intellectual disability; developmental delay; motor delay; speech delay; NA (absent speech); epilepsy, generalized convulsive, intractable; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Patent foramen ovale ; Hydronephrosis, neurogenic bladder, VU reflux; GERD, neurogenic bowel; G-tube dependent; Trach and ventilator dependent secondary to chronic respiratory failure, OSA; no immunological abnormalities;  Hypothyroidism; no skeletal, muscle and soft tissue abnormalities;  Bilateral hearing loss; Cortical blindness, myopia; no ectodermal abnormalities; small, tapered fingers, 2nd toe overlaps 3rd, R-side: 3rd overlaps 4th; MRI-brain no holoprosencephaly, Dandy walker, cerebellar vermis hypoplasia, enlarged posterior fossa + expanded 4th ventricle, hypoplasia of brainstem. Generalized supratentorial white/grey volume loss (white and gray), thinning + elevation of corpus callosum. Stable findings. 1 1 Johan den Dunnen
00305545 Individual 31 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 39w, weight 2989 (normal); height 121.3 (-2.0 SD), weight 27.1 (normal), OFC 50.6 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; epilepsy, intractable complex partial seizures; hypotonia; no spasticity; ataxia; no behavioral disturbances; sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; dysphagia/feeding difficulties; asthma; no immunological abnormalities; no endocrine abnormalities; Mild conductive hearing loss; Mild strabismus; normal hands, normal feet; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305546 Individual 32 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 40+5w, weight 3748 (normal), OFC 36 (normal); height 112 (+2.1 SD), weight 18.7 (normal), OFC 52.5 (normal); no intellectual disability; developmental delay; motor delay; speech delay (p1 receptive and expressive speech); no dysarthria; no epilepsy; hypotonia; spasticity; no ataxia; no behavioral disturbances; sleep disturbances; facial abnormalities; no cardiac abnormalities; Excessive drooling as a toddler; Lax joints; Pes planovalgus; Developmental coordination disorder, easily fatigued; MRI-brain no holoprosencephaly, enlarged Virchow-Robin spaces 1 1 Johan den Dunnen
00305547 Individual 33 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 40+5w, weight 4360 (normal); height 112.4 (normal), weight 16.4 (normal), OFC 47.3 (-2.4 SD); intellectual disability IQ55; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; autism spectrum disorder; facial abnormalities; dysphagia/feeding difficulties; Simian crease; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305548 Individual 34 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 32w, weight 1984 (normal); height 174.0 (normal), weight 75.6 (normal), OFC 53.7 (normal); intellectual disability IQ70-80; developmental delay; motor delay; speech delay; epilepsy, due to frontal lobe dysplasia; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, attention deficit disorder, anxiety disorder; no sleep disturbances; no facial abnormalities; no cardiac abnormalities; no hearing abnormalities; Astigmatism/myopia; Twin; MRI-brain no holoprosencephaly, frontal lobe dysplasia 1 1 Johan den Dunnen
00305549 Individual 35 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 41+3w, weight 2580 (<-3 SD); height 106.5 (-3 to -4SD), weight 16.8 (normal), OFC 46,3 (-5 SD); intellectual disability; developmental delay; motor delay (walking age 2yrs); speech delay (single words at 7); dysarthria (slurred speech); no epilepsy; hypotonia; no spasticity; ataxia; No stranger danger awareness, dislikes busy environments; On melatonin; facial abnormalities; no urogenital abnormalities; PEG feeding tube; More often respiratory tract infections than usual; No; no hearing abnormalities; Diminished sight eye L, very photo sensitive; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, Chiari 1 1 1 Johan den Dunnen
00305550 Individual 36 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 40w euthocic, weight 2490 (-3 SD), OFC 32 (-2 SD); height 96 (normal), weight 13.4 (normal), OFC 45.5 (normal); mild intellectual disability; developmental delay (mild; at 22 months a mental age of 15 months); motor delay; speech delay; no epilepsy; hypotonia; no spasticity; no ataxia; Impulsivity, aggresive behavior, tantrums; no sleep disturbances; facial abnormalities; Patent foramen ovale; L kidney agenesis; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; 13 pairs of ribs; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Bilateral single palmar crease, mild brachydactyly; Umbilical hernia; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305551 Individual 37 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 37+3w, weight 3150 (normal), OFC 34 (normal); height 105 (<-2.0 SD), weight 14.5 (<-2 SD), OFC 52 (normal); severe intellectual disability; developmental delay; speech delay; dysarthria; no epilepsy; hypotonia; spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; +; no pulmomal abnormalities; no immunological abnormalities; Hypoglymecemia; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Choreadystonia; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00305552 Individual 38 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 40w, weight 2948 (normal), OFC (<-2.0 SD); height 161 (<-3.0 SD), weight 49.4 (normal), OFC 49.7 (<-3.0 SD); moderate intellectual disability; developmental delay; no motor delay; speech delay; no dysarthria; 2y-epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Aortic root dilation, on losartan: NA; no dysphagia/feeding difficulties: NA: Scoliosis; no hearing abnormalities; Myopia: NA; Dystonia; MRI-brain no holoprosencephaly, Chiari 1 malformation, microcephaly 1 1 Johan den Dunnen
00305553 Individual 39 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 36+5w, weight 2940 (normal), OFC 36.5 (+2.0 SD); height 148.1 (-2.0 SD), weight 35.1 (normal), OFC 56.7 (normal); intellectual disability IQ56; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; ataxia; autism spectrum disorder, difficulties social behavior; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Cryptorchidism, cyst in kidney; Hepatomegaly in neonatal period; Aterior drooling; no pulmomal abnormalities; no immunological abnormalities; Big fontanel, wide cranial sutures; no hearing abnormalities; Myopia; Very light blond hair; Brachydactyly and clinodactyly 5th fingers; Perinatal asphyxia; MRI-brain normal, no holoprosencephaly 1 1 Johan den Dunnen
00335047 175672 - - M ? Turkey - - - - - HPE (+) Epicanthus,(+) Abnormality of the forehead,(+) Hypertelorism,(+) Sloping forehead,(+) Long philtrum,(+) Abnormal eyelid morphology,(+) Synophrys,(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Hoarse voice,(+) Short toe,(+) Disproportionate short stature,(+) Short stature,(+) Short finger,(+) Abnormality of dental structure,(+) Short digit,(+) Cognitive impairment 1 1 Andreas Laner
00372565 Pat9 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD weight +2 SD, height +2 SD, OFC +2 SD; mild developmental delay/intellectual disability (IQ ND); walk-18m; speech delay; autism spectrum disorder; attention deficit hyperactivity disorder; no epilepsy; dysmorphic featuresc; bilateral radio-ulnar synostosis 1 1 Johan den Dunnen
00375635 181708 - prenatal analysis of fet 1 of 2. ? - Germany - - - - - HPE (+) Abnormality of prenatal development or birth,(+) Lissencephaly,(+) Holoprosencephaly 1 1 Andreas Laner
00395419 188611 - - M no Germany - - - - - VIBOS Macrocephaly, Global developmental delay, Abnormal facial shape 1 1 Andreas Laner
00472217 - Verebi et al. (submitted) - F - France - - - - - VIBOS Myopathy 1 1 Camille Verebi
00472218 - - - F - - (not applicable) white - - - - NDD HP:0001249, HP:0000717, HP:0001511, HP:0008897, HP:0000410, HP:0000185, HP:0000486, HP:0000537, HP:0000316, HP:0002553, HP:0000417, HP:0000347, HP:0000369, HP:0000358, HP:0010769, HP:0010055, HP:0011304 1 1 Marketa Wayhelova
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.