All individuals with variants in gene CHD3

68 entries on 1 page. Showing entries 1 - 68.
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     
00274276 Fam1Pat1 - family, 2 affected M - United States - - - - - ? macrocephaly, dysmorphic features, prominent extra-axial spaces, corical visual impairment, severe intelectual disability 1 2 Dong Li
00274277 Subject 2 - - M - United States - - - - - ? dysmorphic features, strabismus, moderate-severe intelectual disability, turricephalus, high palate, median covered cleft palate, respiratory distress at birth, deep foot creases 1 1 Dong Li
00275839 Fam1Pat2 - - M - United States - - - - - ? macrocephaly, dysmorphic features, corical visual impairment, severe intelectual disability, unilateral undescended Testicle 1 1 Dong Li
00275840 Subject 3 - - M - United States - - - - - ? macrocephaly, dysmorphic features, VSD, strabismus, mild-moderate intelectual disability 1 1 Dong Li
00275841 Subject 4 - - F - United States - - - - - ? microcephaly, severe intelectual disability, quadriparesis, dystonia, osteochondroma of humeri, right hip dysplasia, scoliosis, beaked nose, cleft palate 1 1 Dong Li
00275842 Subject 5 - - F - United States - - - - - ? dysmorphic features, delayed myelination, ASD, corical visual impairment, moderate-severe intelectual disability, partial thyroid agenesis, laryngomalacia, gastroesopjageal reflux, frequent infections, high pain treshold 1 1 Dong Li
00275843 Subject 6 - - F - United States - - - - - ? dysmorphic features, ASD, moderate intelectual disability, febrile seizures, apparent skin folds in neck, bruxism 1 1 Dong Li
00275844 Subject 7 - - M - United States - - - - - ? dysmorphic features, strabismus, moderate intelectual disability, unilateral ectopic testis, gastroesophageal reflux, dry skin, initial tracheomalacia 1 1 Dong Li
00275845 Subject 8 - - M - United States - - - - - ? dysmorphic features, moderate intelectual disability, camptodactyly of fingers 4/5,bulbous halluces, sloping shoulders 1 1 Dong Li
00275846 Subject 9 - - F - United States - - - - - ? moderate intelectual disability 1 1 Dong Li
00275847 Subject 10 - - F - United States - - - - - ? macrocephaly, dysmorphic features, moderate intelectual disability 1 1 Dong Li
00275848 Subject 11 - - F - United States - - - - - ? macrocephaly, dysmorphic features, prominent extra-axial spaces, mild intelectual disability, poor vaccine response, frequent respiratory infections, very low subcutaneous fat 1 1 Dong Li
00275849 Subject 12 - - F - United States - - - - - ? macrocephaly, dysmorphic features, thin strip of hypopigmented hair over occiput, caf'e-au-lait spot on chest 1 1 Dong Li
00275850 Subject 13 - - F - United States - - - - - ? delayed myelination, corical visual impairment 1 1 Dong Li
00275851 Subject 14 - - F - United States - - - - - ? macrocephaly, dysmorphic features, strabismus, mild-moderate intelectual disability 1 1 Dong Li
00275852 Subject 15 - - M - United States - - - - - ? macrocephaly, dysmorphic features, delayed myelination, moderate intelectual disability, umbilical hernia, osteoporosis, kidney stones 1 1 Dong Li
00275853 Subject 16 - - F - United States - - - - - ? mild intelectual disability, severe movement disorder with choreatic movements and stiff gait, high pain threshold 1 1 Dong Li
00275854 Subject 17 - - M - United States - - - - - ? macrocephaly, dysmorphic features, severe intelectual disability, thick scarring, recurrent bilateral cavus foot deformity, very thin calves bilaterally 1 1 Dong Li
00275855 Subject 18 - - F - United States - - - - - ? dysmorphic features 1 1 Dong Li
00275856 Subject 19 - - M - United States - - - - - ? macrocephaly, dysmorphic features, strabismus, mild intelectual disability 1 1 Dong Li
00275857 Subject 20 - - M - United States - - - - - ? dysmorphic features, prominent extra-axial spaces, ASD 1 1 Dong Li
00275858 Subject 21 - - F - United States - - - - - ? dysmorphic features, prominent extra-axial spaces, mild intelectual disability, hypercalcemia 1 1 Dong Li
00275859 Subject 22 - - F - United States - - - - - ? dysmorphic features, strabismus, moderate-severe intelectual disability 1 1 Dong Li
00275860 Subject 23 - - F - United States - - - - - ? dysmorphic features, mild-moderate intelectual disability, PCOS, obesity, diabetes, syncopal episodes, broad hands, short fingers, dysplastic toe nails 1 1 Dong Li
00275861 Pat01/Pat8 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech M - - - - - - - SPCH childhood apraxia of speech; late onset language use; IQ below average; gross or fine motor impairment; oral nonverbal motor impairment 1 1 Johan den Dunnen
00275891 Pat1 PubMed: Snijders Blok 2018 - M - - - - - - - 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, 1 1 Johan den Dunnen
00275892 Pat2 PubMed: Snijders Blok 2018 - M - - - - - - - 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 1 1 Johan den Dunnen
00275893 Pat3 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275894 Pat4 PubMed: Snijders Blok 2018 - M - - - - - - - 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 1 1 Johan den Dunnen
00275895 Pat5 PubMed: Snijders Blok 2018 - F - - - - - - - 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. 1 1 Johan den Dunnen
00275896 Pat6 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275897 Pat7 PubMed: Snijders Blok 2018 2-generation family, affected sister/brother (mother mosaic) F - - - - - - - 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;; 1 2 Johan den Dunnen
00275898 Pat8 PubMed: Snijders Blok 2018 brother M - - - - - - - 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;; 1 1 Johan den Dunnen
00275899 Pat9 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275900 Pat10 PubMed: Snijders Blok 2018 - M - - - - - - - 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;; 1 1 Johan den Dunnen
00275901 Pat11 PubMed: Snijders Blok 2018 - M - - - - - - - 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;; 1 1 Johan den Dunnen
00275902 Pat12 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275903 Pat13 PubMed: Snijders Blok 2018 - M - - - - - - - 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. 1 1 Johan den Dunnen
00275904 Pat14 PubMed: Snijders Blok 2018 - M - - - - - - - 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; 1 1 Johan den Dunnen
00275905 Pat15 PubMed: Snijders Blok 2018 - M - - - - - - - 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*) 1 1 Johan den Dunnen
00275906 Pat16 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275907 Pat17 PubMed: Snijders Blok 2018 - M - - - - - - - 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 1 1 Johan den Dunnen
00275908 Pat18 PubMed: Snijders Blok 2018 - F - - - - - - - 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. 1 1 Johan den Dunnen
00275909 Pat19 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275910 Pat20 PubMed: Snijders Blok 2018 2-generation family, affected twin sisters F - - - - - - - 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; 1 2 Johan den Dunnen
00275911 Pat21 PubMed: Snijders Blok 2018 twin sister F - - - - - - - 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 1 1 Johan den Dunnen
00275912 Pat22 PubMed: Snijders Blok 2018 - M - - - - - - - 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). 1 1 Johan den Dunnen
00275913 Pat23 PubMed: Snijders Blok 2018 - M - - - - - - - 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 1 1 Johan den Dunnen
00275914 Pat24 PubMed: Snijders Blok 2018 - M - - - - - - - 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; 1 1 Johan den Dunnen
00275915 Pat25 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275916 Pat26 PubMed: Snijders Blok 2018 - M - - - - - - - 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. 1 1 Johan den Dunnen
00275917 Pat27 PubMed: Snijders Blok 2018 - M - - - - - - - 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 1 1 Johan den Dunnen
00275918 Pat28 PubMed: Snijders Blok 2018 - F - - - - - - - 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 1 1 Johan den Dunnen
00275919 Pat29 PubMed: Snijders Blok 2018 - M - - - - - - - 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. 1 1 Johan den Dunnen
00275920 Pat30 PubMed: Snijders Blok 2018 - M - - - - - - - NDD global developmental delay; walk-1y11m; fine motor delay; first words-15m; speech short sentences; received speech/language therapy; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; restless, friendly; normal weight; normal height; macrocephaly; MRI-brain cortical dysplasia; no wide CSF spaces; no hypotonia; 6m-spasm with hypsarythmie, not anymore; no; high forehead with frontal bossing; widely spaced eyes; small teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; pectus abnormality; 1 1 Johan den Dunnen
00275921 Pat31 PubMed: Snijders Blok 2018 - M - - - - - - - NDD global developmental delay; walk-1y7m; fine motor delay; first words-18m; speech sentences; received speech/language therapy; Dysarthria, nasal speech; Mild intellectual disability (IQ 64); PDD-NOS; ADHD; tics, temper tantrums. Echolalia. Hand flapping. Very happy and social personality. Very restless, especially in stress; normal weight; normal height; macrocephaly; MRI-brain some small subcortical white matter lesions in frontal lobes.Wide perivascular spaces. Malrotation of the hippocampus with flying bird sign; no wide CSF spaces; hypotonia; no epilepsy, no seizures; Poor balance, suboptimal coordination. Walks with exorotation of legs and feet; prominent forehead, bossing, metopic ridge; widely spaced eyes; missing incisors, large front teeth; normal palate; no neonatal issues; vision doubt about depth perception, no other abnormalities; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; Pedes plani. Hyperextensible thumbs; extra right nipple. High pain treshold. 1 1 Johan den Dunnen
00275922 Pat32 PubMed: Snijders Blok 2018 - M - - - - - - - NDD global developmental delay; walk-2y11m; speech short sentences; Borderline intellectual disability (IQ 76);; MRI-brain focal patch or nodular HIS at bilateral periventricular white matter, especially occipital area; no wide CSF spaces; no epilepsy, no seizures; mildly unsteady gait only; prominent forehead; normal palate; normal hearing; normal heart; normal kidneys; 1 1 Johan den Dunnen
00275923 Pat33 PubMed: Snijders Blok 2018 - F - - - - - - - NDD global developmental delay; walk-5y-6y; fine motor delay; speech only few words, mainly uses gestures and sounds; did not receive speech/language therapy; Speech production more impaired than receptive language; Severe intellectual disability; autistic features; no ADHD/ADD; Stereotypic movements, sometimes agression, problems with changes, automutilation; weight <-2.5 SD; normal height; no macrocephaly, no microcephaly; no hypotonia; no epilepsy, no seizures; no; normal forehead; widely spaced eyes; wide-spaced teeth, crowded teeth; neonatal feeding problems; strabism; normal hearing; normal heart; normal kidneys; no hernias; scoliosis, kyphosis. Laxity in finger joints; Constipation. Severe feeding problems requiring tube feeding until age 7y. Recurrent anemia. Eczema 1 1 Johan den Dunnen
00275924 Pat34 PubMed: Snijders Blok 2018 - M - - - - - - - NDD global developmental delay; no walking yet; fine motor delay; no first words yet; no speech yet; received speech/language therapy; Delayed speech development, oromotor problems; developmental delay; no autism/autistic features; no ADHD/ADD; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; myoclonal epilepsy of infancy since age 1y (drug-resistant); no; broad forehead, frontal bossing; widely spaced eyes; normal teeth; normal palate; neonatal feeding problems; strabism; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; feeding problems, does not like solid food 1 1 Johan den Dunnen
00275925 Pat35 PubMed: Snijders Blok 2018 - M - - - - - - - NDD global developmental delay; walk-1y6m; first words-on time; speech sentences; received speech/language therapy; Receptive and expressive delay, impaired intelligibility; Mild intellectual disability (IQ 61); no autism/autistic features; no ADHD/ADD; Friendly, happy; normal weight; normal height; no macrocephaly, no microcephaly; no hypotonia; no epilepsy, no seizures; no; normal forehead; no 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 1 1 Johan den Dunnen
00380228 182764 - - F no Germany - - - - - SNIBCPS Microcephaly, Delayed speech and language development, Neurological speech impairment, Language impairment, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay 1 1 Andreas Laner
00390052 186363 - - F no Germany - - - - - SNIBCPS Abnormality of the midface, Smooth philtrum, Short philtrum, Abnormal foot morphology, Pes planus, Scoliosis, Midface retrusion, Neurodevelopmental abnormality 1 1 Andreas Laner
00417496 FamA PubMed: Olivier 2021 4-generation family, 12 affected (8F, 4M) F;M - France - - - - - RP see paper 1 12 Johan den Dunnen
00434643 247631 - - M no Germany - - - - - SNIBCPS Delayed speech and language development, Expressive language delay, Tall stature, Macrocephaly 1 1 Andreas Laner
00458022 04775-subject1 - 1 affeacted (F), unaffected parents F no China - - - - - SNIBCPS intellectual disability (HP:0001249), epilepsy (HP:0001250), ataxia (HP:0001251), unstable gait (HP:0002317), abnormal EEG (HP:0002353), Situs Inversus Totalis (HP:0030853） 1 1 Xiaoguang Lei
00464699 - - - F - - (not applicable) white - - - - NDD (HP:0002342, HP:0004322, HP:0007018, HP:0000750, HP:0000271, HP:0000823 1 1 Marketa Wayhelova
00466037 - - - M - - (not applicable) white - - - - NDD HP:0000271, HP:0000505, HP:0000736, HP:0007018, HP:0012758, HP:0001629, HP:0001263, HP:0001249, HP:0000750, HP:0001780, HP:0002981, HP:0001430, HP:0001437, HP:0007340, HP:0008962, HP:0008110, HP:0100498, HP:0030198 1 1 Marketa Wayhelova
00466430 - - - M - - (not applicable) white - - - - NDD (HP:0000750, HP:0001263, HP:0000717, HP:0000729 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.