All individuals with variants in gene ZNF148

29 entries on 1 page. Showing entries 1 - 29.
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     
00289300 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Behavioral abnormality (HP:0000708); Short stature (HP:0004322); Muscular hypotonia (HP:0001252); Prominent forehead (HP:0011220); Epicanthus (HP:0000286); Sparse eyebrow (HP:0045075); Short finger (HP:0009381) 1 1 IMGAG
00435630 Pat2 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no Romania - - - - - NDD see paper; ..., motor delay, 2y6m-walk; speech delay; intellectual disability; seizures; pale optic nerves, strabismus, myopia; no hypotonia; MRI brain abnormal white matter signal (delayed myelination), focal dysgyria, agenesis of anterior falx cerebri; mildly tapered fingers; prominent maxilla/upper lip; micrognathia; long ears 1 1 Johan den Dunnen
00446702 Pat1 PubMed: Stevens 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? pregnancy uncomplicated, mother noted diminished fetal movements; birth 35w+4, weight 2.68 kg (–0.30 SD), length 47 cm (–0.37 SD), OFC 32 cm (–0.75 SD); severe feeding problems, tube feeding need for sufficient caloric intake; 6y8m-height 110.2cm (–2.29 SD), 6y8m-weight 17 kg (–1.09 SD), 6y6m-OFC –2.76 SD; 3y-walked independentl; 3y-spoke; mild intellectual delay; triangular-shaped face with pointed chin; normal blond straight head hair, hypertrichosis of arms and back; epicanthus, upslanted palpebral fissures, hyperopia (+6.5D); full nasal tip, prominent columella; deeply grooved philtrum; full lower lip; prominent crus helicis right ear; pointed chin; normal thorax; congenital trigger thumb, dysplastic nail left hallux; normal genitalia; no puberty; no epilepsy; MRI brain thin corpus callosum, slightly delayed myelination, suggestion of bilateral parieto-occiptalpolymicrogyria, periventricular hyperintensities; no cardiac anomalies; recurrent upper airway infections, delayed intestinal mobility problems, late first tooth eruption > 3y 1 1 Johan den Dunnen
00446703 Pat2 PubMed: Stevens 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - 6d - - - ? pregnancy decelerative CTG just before birth; birth 31w+2 caesarean section, not breathing, pale, hypotonic, lactic acidosis postpartum, weight 1.84 kg (+0.04 SD), length 39 cm (–2.62 SD), OFC 29.2 cm (–0.37 SD); 6d-length 40 cm (–2.5 SD), weight 1.84 kg (+0.04 SD), OFC 29.2 cm (–0.37 SD); coarse face, slight frontal bossing; hypertrichosis with lanugo hair on face; slight right epicanthus, wide-set eyes, remarkable broad left eyebrow with long hairs; long, smooth philtrum; smooth philtrum; normal mouth; large ears; slight micrognathia, pointed chin; wide-spaced inverted nipples; bilateral talipes equinovarus with deeply grooved foot soles; undescended right testis; no puberty; epilepsy, EEG burst suppression; MRI brain absent corpus callosum, wide lateral ventricles, bleeding; open ductus arteriosus, heavy heart, no cardiomyopathy; multicystic dysplastic left kidney, pyelectasia/hydronephrosis right kidney; short neck 1 1 Johan den Dunnen
00446704 Pat3 PubMed: Stevens 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? pregnancy uncomplicated; birth 38w+5, hypotonic and hyporeactive, continuous positive airway pressure for respiratory insufficiency weight 3.315 kg (+0.14 SD), length 49 cm (–0.50 SD), OFC 35 cm (+0.49 SD); feeding problems during first week with 5d tube feeding; 11y3m-height 151.7 (+0.04 SD), 3y-catch up with growth hormone substitution therapy for growth retardation (2y9m-–2.48SD) and growth hormone deficiency, weight 38.4 kg (–0.33 SD), OFC 58.2 cm (+2.84 SD); 4y-walk; >3y-started talking; intellectual disability (IQ 58); slight frontal bossing, triangular-shaped face with pointed chin; curly hair; wide-set, slight epicanthus, downslanting palpebral fissures; prominent columella; normal philtrum; mouth wide-set points of upper vermilion; low-set ears, posteriorly rotated ears; pointed chin; normal thorax; pedes plani, slight genua valga; normal genitalia; 8y-early breast development; no epilepsy; MRI brain absent corpus callosum, colpocephaly; no cardiac anomalies; renal ultrasound normal; early signs of puberty, growth hormone deficiency; first year frequent rhinitis 1 1 Johan den Dunnen
00446705 Pat4 PubMed: Stevens 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? pregnancy renal cysts and heart defect on fetal ultrasound; birth 36w induced vaginal delivery, apneic at delivery, responding to PPV, started on PGE for known COA, weight 1.990 kg (–1.49 SD), length 42 cm (–2.55 SD), OFC 28.5 cm (–3.2 SD); feeding problems during neonatal period with tube feedings, persistent FTT; 6y-height 93.47 cm (–5.11 SD), weight 11.79 kg (Z –5.71), OFC 41 cm (–8.7 SD); 3m-rolled over; 18m-crawl; 4y-walk; speech 20 words; no formal developmental assessment. attends elementary school receiving special education through the public school system. uses communication devices for expressive language. receptive language seems good; oval-shaped face with mild bitemporal constriction; fine hair; mild telecanthus, upslanting, short and narrow palpebral fissures hyperopia, mild bilateral optic nerve hypoplasia; prominent nose with low-hanging prominent columella; smooth philtrum; wide mouth with thin upper vermillion border; highly arched palate, widely spaced teeth of abnormal shape; unusual shape ears with underfolded helix and prominent anthelix; pointed chin with prognathia; normal thorax; bilateral talipes equinovarus; normal genitalia; no puberty; no epilepsy; CT brain suspected partial deficiency rostrum corpus callosum, non-specific foci left fronta/left occipital skull of unknown etiology; coarctation of aorta, mitral valve stenosis; multicystic dysplastic right kidney, history of multiple urinary tract infections, normal voiding cystourethrogram; normal bone age, normal growth hormone status; frequent otitis media status post tympanostomy, tube placement 1 1 Johan den Dunnen
00446706 Pat1 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - NDD see paper; ..., birth 34w; respiratory distress; generalized fetal hydrops/edema, pericardiac effusion; feeding difficulty, failure to thrive; spasticity extremities; axial hypotonia; recurrent airway infections, recurrent endocarditis; no renal anomalies; no cardiac defect; no sketelal anomalies; small hands, promiment PIP joints, 5th finger clinodactyly, abnormal palmar creases, pes planus, hallux valgus, proximally inserted 3rd to; no corpus callosum agenesis/hypoplasia; delayed myelination; focal epilepsy; delayed motor development, 4y-walk; severe intellectual disability (IQ22); speech delay, speaks a few words; challenging, ADHD, good task awareness; myopia (6.5D), left iris coloboma; no hearing problems; high pain treshold esp. heat; vertically narrow, upslanted eyes, left iris coloboma, fullness of the lateral half upper eyelids; triangular face, flat malar region; broad, squared chin; large nose, broad nasal base, long columella; open mouth, prominent tongue, thin upper and full lower lip; late eruption of permanent teeth, cone- shaped upper incisors, rotated lower incisors; ears prominent antitragi; thin, straight hair; thrombocyopenia lymphopeni; normal genitals 1 1 Johan den Dunnen
00446707 Pat2 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 37w; respiratory distress, obstructive apnea; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; recurrent infections early childhood; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no corpus callosum agenesis/hypoplasia; 3y-febrile seizures; delayed motor development, 18m-walk, gross and fine motor delay; mild intellectual disability (IQ 1st centile), learning difficulty; moderate-severe speech delay; opposition, impulsivity, anxiety, hyperactivity; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; bilateral epiblepharon; normal shape face; normal chin; nose broad nasal base; normal mouth, normal lips; no dental anomalies; large ears; no hair/skin/nail anomalies; no haematological problems; normal genitals 1 1 Johan den Dunnen
00446708 Pat3 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - NDD see paper; ..., birth 34w+1; no respiratory distress; no fetal hydrops/edema; failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no seizures, EEG normal; delayed motor development, 25m-walk; mild intellectual disability (IQ 70); speech delay; no behavioural problems; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; mildly upslanted eyes; normal shape face; prominent chin, prognathia; nose broad nasal tip, long columella; small mouth, protruding tongue, thin upper and full lower lip; delayed dentition, cone- shaped front lower incisors; normal ears; sparse, fair hair; no haematological problems; normal genitals 1 1 Johan den Dunnen
00446709 Pat4 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 37w+1; respiratory distress; no fetal hydrops/edema; feeding difficulty, failure to thrive; no spasticity extremities; hypotonia; recurrent otitis; no renal anomalies; no cardiac defect; scoliosis, kyphosis, osteoporosis; pamidronate therapy; small hands and feet, 5th finger clinodactlyly, short 4th-5th fingers, abnormal palmar creases, pes planus; dilated lateral ventricles; no seizures, EEG normal; delayed motor development, 3y6m-walk; mild intellectual disability (TIQ 62, VIQ72, PIQ 57); no speech delay; ASD, OCD; Duane anomaly; bilateral progressive hearing loss, moderate, perceptive; anosmia, high pain treshold; mildly upslanted eyes, mild fullness middle third upper eyelids; normal shape face; broad chin, almost bifid; nose broad nasal base, long columella; thin upper lip; dental calculus; normal ears; abnormal fat distribution, gluteal fat pads, thin hair; no haematological problems; normal genitals 1 1 Johan den Dunnen
00446710 Pat5 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth shortly before term; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; recurrent perinatal sepsis; no renal anomalies; no cardiac defect; unfused posterior C1 arch; 5th finger clinodactyly; no corpus callosum agenesis/hypoplasia; mildly decreased cerebral volume; no seizures, EEG normal; delayed motor development, 2y-walk, oculomotor apraxia; mild intellectual disability (dissociated IQ); speech delay, kindergarten-preschool age, language apraxia; OCD, anxiety, attention deficit; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; downslanted palpebral fissures, heavy eyelashes and eyebrows; broad flat face, apparent coronal suture synostosis; retrognathia; prominent nose; downturned corners of mouth; mildly small and crowded teeth; normal ears; no hair/skin/nail anomalies; mild normocytic anemia, low ferritin 1 1 Johan den Dunnen
00446711 Pat6 PubMed: Szakszon 2024 2-generation family, patient/mildly affected carrier mother F - - - - - - - NDD see paper; ..., birth shortly before term; no respiratory distress; no fetal hydrops/edema; feeding difficulty, failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no sketelal anomalies; 5th finger clinodactyly; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; no delayed motor development; mild intellectual disability; speech delay; ADHD, ASD; no ophthalmological problems; no hearing problems; mild vertically narrowing eyes, mild upslant, fullness middle third upper eyelids; mild maxillary hypoplasia; broad chin, almost bifid; prominent nose, high and narrow nasal bridge, broad nasal base; thin upper lip, full lower lip, malocclusion; crowded teeth; ears thick helix, prominent crus helix and antihelix; high anterior hairline 1 1 Johan den Dunnen
00446712 Pat7 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 38w; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; infancy hypotonia; recurrent infections infancy; no renal anomalies; no cardiac defect; no sketelal anomalies; bilateral 5th finger clinodactyly; no corpus callosum agenesis/hypoplasia; generalized seizures, multifocal epilepsy; delayed motor development, 18m-walk; moderate intellectual disability; severe speech delay, speaks only a few words; ASD, ADHD, self-harm, stereotypic hand movements; no ophthalmological problems; no hearing problems; uplslanted eyes, mildly narrow; long, triangular face; broad chin, squared; nose broad nasal base; protruding tongue, open mouth, thick lips; prominent upper central incisors, high palate, malocclusion; normal ears; no hair/skin/nail anomalies; no haematological problems 1 1 Johan den Dunnen
00446713 Pat8 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier mother/sister M - - - - - - - NDD see paper; ..., birth 40w; no respiratory distress; no feeding difficulty, no failure to thrive; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; corpus callosum hypoplasia; no seizures, EEG normal; delayed motor development; moderate intellectual disability, institution bound; speech delay, speaks in words /short sentences; aggression, tantrums, ASD, shyness, attention deficit; mild myopia; no hearing problems; no altered sensation pain/heat/smell/touch; downslanted palpebral fissures, arched eyebrows, fullness of the upper eyelid; brachy-turricephaly; broad chin, retracted; nose broad nasal base; highly arched palate, thin upper and full lower lip; no dental anomalies; ears low-set, thin; bitemporal receding hairline, low posterior hairline; slight polycythaemia, mildly increased ferritin; normal genitals 1 1 Johan den Dunnen
00446714 Pat9 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 38w; no respiratory distress; polyhydramnios; eeding difficulty, gastrostomy tube; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 22m-walk; moderate intellectual disability, institution bound; speech delay, speaks in words/short sentences; sleep distubance, shyness, attention deficit; astigmatism; no hearing problems; no altered sensation pain/heat/smell/touch; almond shape fissures, arched eyebrows; normal shape face; large bifid chin; nose long columella, small alae nasi, mildly broad nasal base; highly arched palate, thin upper, full lower lip; no dental anomalies; normal ears; light, sparse and slow growing hair, fragile nails; no haematological problems; normal genitals 1 1 Johan den Dunnen
00446715 Pat10 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., birth close to term; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no sketelal anomalies; no limb malformation; no seizures, EEG normal; no delayed motor development; moderate intellectual disability; speech delay, very few words; poor eye contact; ASD, ADHD; no ophthalmological problems; no hearing problems; upslanted eyes, epicanthus; normal shape face; normal chin; nose broad nasal tip and base; tented upper lip, everted lower lip; widely spaced teeth; ears low-set; no hair/skin/nail anomalies 1 1 Johan den Dunnen
00446716 Pat11 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; feeding difficulty in infancy; no spasticity extremities; generalized hypotonia; recurrent infections early childhood; mild pulmonary artery regurgitation; apparent scoliosis; short 5th fingers bilaterally; febrile seizures; delayed motor development, 2y6m-walk; moderate intellectual disability (IQ47); severe speech delay, unintelligible speech; shyness, anxiety, nail biting, maladaption; myopia; right moderate sensorineural hearing loss, left borderline hearing loss; small eyes, slightly downslanted, ptosis, epicanthus inversus; brachycephaly, long face, flat zygomatic areas; large, square chin, prognathism; pyramid shaped nose, broad nasal base; ankyloglossia, thin upper lips; irregular, crowded teeth, delayed primary and permanent dentition; normal ears; fine, mildly sparse hair, smooth, velvety skin; mild thrombocytopenia, mild neutropenia, borderline macrocytosis; bilateral cryptorchidism 1 1 Johan den Dunnen
00446717 Pat12 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; feeding difficulty with solid food; no spasticity extremities; no hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; small hands, short fingers and nails, abnormal palmar and plantar creases, dorsally bent 2nd toes syndactyly 2/3 toes; no seizures, EEG normal; delayed motor development, 19m-walk; no intellectual disability; no speech delay; no behavioural problems; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; right tear duct stenosis; high, prominent forehead, flat and triangular face; broad, square chin, with double peaks; nose broad nasal base, long columella, mildly hypoplastic alae nase; short upper labium frenulum, thin upper lip; no dental anomalies; normal ears; eyebrows unidentifiable, short nails; no haematological problems 1 1 Johan den Dunnen
00446718 Pat13 PubMed: Szakszon 2024 2-generation family, patient/mildly affected carrier mother M - - - - - - - NDD see paper; ..., birth 38w; respiratory distress, perinatally; no fetal hydrops/edema; no failure to thrive; spasticity distally on upper limbs; no hypotonia; 2d-fever; no sketelal anomalies; camptodactyly, mild bilateral interdigital webbing, mild clinodactyly V of hands; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 19m-walk; intellectual disability (IQ45); speech delay; mil behavioural problems, shyness, attention deficit; ophthalmological problems; no hearing problems; hypertelorism, vertically narrow palpebral fissures, left ptosis; normal shape face; broad, square chin; nose broad nasal base, anteverted nares, mildly hypoplastic alae nasi; open mouth, long and smooth philtrum, thick lower lip; large upper frontal middle incisors; ears small, 5.5 cm; no hair/skin/nail anomalies; shawl scrotum 1 2 Johan den Dunnen
00446719 Pat14 PubMed: Szakszon 2024 mother F - - - - - - - NDD see paper; ..., no respiratory distress; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; mild camptodactyly of fingers; no seizures, EEG normal; no delayed motor development; learning difficulty; mild speech delay; mild behavioural problems, shyness; ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; hypertelorism, vertically narrow palpebral fissures; normal shape face; broad, square chin; nose broad nasal base, anteverted nares, mildly hypoplastic alae nasi; long and smooth philtrum, open mouth, thick lower lip; no dental anomalies; ears small; no hair/skin/nail anomalies 1 1 Johan den Dunnen
00446720 Pat15 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 36w; respiratory distress, ventilation support; feeding severe reflux; no spasticity extremities; no hypotonia; no recurrent infections; no cardiac defect; joint hypermobility, bilaeral hip dysplasia; no limb malformation; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 22m-walk, poor fine motor skills, poor balance, dyspraxia; intellectual disability, moderate learning disability; speech delay, speech disordered; decreased tolerance of change; bilateral hypermetropia (+10D); no hearing problems; oversensitive to touch; sparse eyebrows laterally; scaphocephaly, high anterior hairline, mild facial asymmetry; asymmetrical, squared, bifid chin; nose high nasal bridge, broad nasal base (mild), mildly hypoplastic alae nasi; high arched palate, "M" shaped upper lip, broad philtrum; delayed dentition; ears thick helix; Raynauds phenomenon, sacral dimple; no haematological problems 1 1 Johan den Dunnen
00446721 Pat16 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 364+4; respiratory distress, multiple apneic events; no fetal hydrops/edema; poor feeding, reflux; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; small patent foramen ovale, mild left pulmonary artery stenosis; torticollis; no seizures, EEG normal; delayed motor development, 12-13m-craw; intellectual disability, global delay; speech delay; no behavioural problems; no ophthalmological problems; eyes normal; plagiocephaly; normal chin; nose pointed nasal tip, long columella; normal mouth, normal lips; no dental anomalies; normal ears; no hair/skin/nail anomalies; no haematological problems 1 1 Johan den Dunnen
00446722 Pat17 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 39w+4; respiratory distress; no feeding difficulty, no failure to thrive; no spasticity extremities; axial hypotonia; no recurrent infections; no renal anomalies; mild myocardium hypertrophy, small atrial septal defect; no sketelal anomalies; mild interdigital webbing on hands, bilateral pes planus; short corpus callosum with thick genu; febrile seizures; delayed motor development, 2y-walk; intellectual disability (IQ55); speech delay; emotional instability, occasional aggression, ADHD; hyperopia, astigmatism; conductive hearing problems; no altered sensation pain/heat/smell/touch; hypertelorism, telecanthus; flat malar region; normal chin; nose broad nasal tip and base, concave nasal ridge, anteverted nares, mild hypoplasia of alae nasi; long philtrum, "M" shaped, thin upper lip; no dental anomalies; ears thick helices; café-au-lait spots 1 1 Johan den Dunnen
00446723 Pat18 PubMed: Szakszon 2024 2-generation family, 1 affected fetus, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., birthfetus early third trimester; severe hydrops hydrothorax, ascites, subcutaneous edema neck; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no corpus callosum agenesis/hypoplasia; normal genitals 1 1 Johan den Dunnen
00446724 Pat19 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 40w; respiratory distress; no fetal hydrops/edema; tube feeding perinatally; hyperlaxity limbs; no hypotonia; recurrent infections urinary tract and airway; no renal anomalies; no cardiac defect; scoliosis and lordosis, osteoporosis, stress fractures; bilat. clubfoot, proximally placed trigger thumbs, brachydactyly, 5th toe clinodactyly, overriding 2nd toe; no seizures, EEG normal; delayed motor development, 1y8m-walk; moderate intellectual disability; speech delay; shyness, ASD, maladaption; hypermetropia, strabismus; no hearing problems; heat intolerance; mild upslant palpebral fissures, straight eyebrows; triangular face; broad, squared chin; nose long columella, broad nasal base, hypoplastic alae nasi; normal mouth, normal lips; crowded teeth; ears prominent antihelix, fleshy lobules; thin, straight hair, facial lentigines; thrombocytopenia attributed to metamizol; normal genitals 1 1 Johan den Dunnen
00446725 Pat20 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - Mexico - - - - - NDD see paper; ..., birth 35w; respiratory distress, ventilation support; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; renal tubular acidosis, nephrocalcinosis; no cardiac defect; no sketelal anomalies; bilateral clubfoot, proximally placed trigger thumbs, brachydactyly, 5th toe clinodactyly, overriding 2nd toe; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, y-walk; mild intellectual disability; speech delay; no behavioural problems; yes, myopia; no hearing problems; high pain treshold; upslanted eyes, narrow, fullness of the medial two thirds upper eyelids, stabismus, esotropia, glaucoma; long face; broad, square chin; large nose, high and straight nasal ridge, broad nasal base, long columella, mildly hypoplastic alae nasi; high arced palate, thin upper lip, long, deeply grooved philtrum; no dental anomalies; ears mildly low set, attached lobules; abnormal dermatoglyphics of palms, dry hair; no haematological problems; bilateral hydrocele, inguinal hernia 1 1 Johan den Dunnen
00446726 Pat21 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 38w; respiratory distress, apnea-bradycardia; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no recurrent infections; no renal anomalies; secundum type atrial septal defect; no sketelal anomalies; sandal gap, pes planus, 5th finger clinodactyly; corpus callosum hypoplasia; colpocephaly, enlarged occipital horns and lateralization of the frontal horns of the lateral ventricles; no seizures, EEG normal; delayed motor development, >2y-walk, stereotypic stiff upholded arms and outward rotation of feet during running, fine motor; intellectual disability; speech delay; flat affect, occasional temper outbursts, aggression, withdrawn nature, shyness; amblyopia, strabismus convergent strabisms astigmatism, cone dystrophy; no hearing problems; no altered sensation pain/heat/smell/touch; narrow palpebral fissures; long face, low anterior hairline; pointed chin; nose narrow nasal bridge, broad nasal base; thin upper lip, everted lower lip; pointed teeth; normal ears; no hair/skin/nail anomalies; no haematological problems; inguinal hernia 1 1 Johan den Dunnen
00446727 Pat22 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 39w; no respiratory distress; no fetal hydrops/edema; feeding difficulty, intolerance of certain textures; no spasticity extremities; mild hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; brachydactyly, brachymetacarpia, persistent fetal pads on hands; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 18m-walk, dyspraxia; mild intellectual disability with heterogenous profile; speech delay, articulation problems, dyspraxia of speech; affectionate, ADHD, low frustration tolerance, shyness, somnambulism; hypermetropia; no hearing problems; no altered sensation pain/heat/smell/touch; upslanted eyes, mild epicanthus, ptosis; broad and high forehead, flat malar region; normal chin; nose broad nasal bridge, wide columella, small nares; thin upper lip; no dental anomalies; ears thick lobules; cutaneous sclerosis, cutis marmorata; no haematological problems; normal genitals 1 1 Johan den Dunnen
00446728 patient PubMed: Miao 2023 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no corpus callosum hypoplasia; MRI brain normal; febrile seizures; delayed fine motor development, 16m-walk; intellectual disability (IQ46); speech delay, poor comprehension, irrelevant verbal responses; ADHD, ASD, disruptive habitus 1 1 Johan den Dunnen
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.