All individuals with variants in gene KAT6B

79 entries on 1 page. Showing entries 1 - 79.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age/Death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00018483 - - Typical Say Barber Biesecker F - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018485 - - Say Barber Biesecker Study - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018486 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018488 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018491 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018492 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018493 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018494 - - - M - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018495 - - - M - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018496 - - - F no United Kingdom (Great Britain) - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018497 - - - F - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018498 - - - F - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018499 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018500 - - - M - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018501 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018502 - - - F - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018504 - - - F - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018505 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018506 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018507 - - Studied in Ulm - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018509 - - - - - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018512 - - - F - - - - 0 - - GTPTS - 1 1 Jill Clayton-Smith
00018513 - - - M - - - - 0 - - GTPTS - 1 1 Jill Clayton-Smith
00018514 - - - M - - - - 0 - - GTPTS - 1 1 Jill Clayton-Smith
00018515 - - - M - - - - 0 - - SBBYSS - 1 1 Jill Clayton-Smith
00018516 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cryptorchidism; Hypospadias; Height 50 pctile; Weight 25 pctile; OFC <3 pctile; ; 1 1 Philippe Campeau
00018517 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile; 1 1 Philippe Campeau
00018518 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Heart Defect; Cryptorchidism; Height 50 pctile; Weight 50 pctile; OFC 2 pctile; 1 1 Philippe Campeau
00018519 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Lacrimal ductabn.; Thyroid abnormal; Heart Defect; Height 9 pctile; Weight 75 pctile; OFC 91 pctile 1 1 Philippe Campeau
00018520 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; 1 1 Philippe Campeau
00018521 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; 1 1 Philippe Campeau
00018522 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Lacrimal ductabn.; Cleft palate; Heart Defect; Height 2 pctile; Weight 9 pctile; OFC 2 to 9 pctile; 1 1 Philippe Campeau
00018523 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Height 2 to 9 pctile; Weight 50 pctile; OFC 50-75 pctile; 1 1 Philippe Campeau
00018524 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Cryptorchidism; Height 25-50 pctile; Weight 98 pctile; OFC 25-50 pctile; 1 1 Philippe Campeau
00018525 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cleft palate; Height 50 pctile; Weight 75 pctile; OFC <50 pctile; 1 1 Philippe Campeau
00018526 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Hypotonia; Feeding problems; Dental anomalies; Thyroid abnormal; Height 25 pctile; Weight 25 pctile; OFC 25 pctile; 1 1 Philippe Campeau
00018527 - - - F ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Pelvic anomalies; Radioulnar synostosis; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Hearing loss; Anteriorly positioned anus; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Atrial septal defect; Tortuous ascending aorta; Facial dysmorphisms; Broad nasal bridge; Resp distress/apnea; 1 1 Philippe Campeau
00018528 - PubMed: Simpson et al. - F ? ? (unknown) ? - 0 - - GTPTS Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Hypoplastic patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defects (ASD, VSD, PDA); 1 1 Philippe Campeau
00018529 - - - F ? ? (unknown) ? - 0 - - GTPTS Clitoral hypertrophy; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Pelvic anomaly 1 1 Philippe Campeau
00018530 - - - M ? ? (unknown) ? - 0 - - GTPTS Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defect (ASD) 1 1 Philippe Campeau
00018531 - - - M ? ? (unknown) ? - 0 - - GTPTS Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Coarse face; Broad/bulbous nose; Hydronephrosis; Pelvic anomaly; Congenital heart defect (PDA); 1 1 Philippe Campeau
00018532 - - - F ? ? (unknown) ? - 0 - - GTPTS Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Pelvic anomaly 1 1 Philippe Campeau
00018533 - PubMed: Kraft M et al. - M ? ? (unknown) ? - 0 - - NS Noonan syndrome–like phenotype; microcephaly; ADHD, IQ 75-80; Normal MRI; Blepharophimosis; Ptosis ; High arched eyebrows ; Low-set ears with overfolded helix and fleshy lobe, ; Smooth philtrum; Retrognathia; High arched palate; Short stature; Retarded bone age; Ligamentous laxity; 1 1 Philippe Campeau
00018534 - - - M ? ? (unknown) ? - 0 - - GTPTS Oligohydramnios noted at 6 mo. Gestation; B wt 3.2 kg, term; Seizures from neonatal period; Failure to thrive; Global developmental delay; Microcephaly; Facial dysmorphism; Sparse hair- scalp, eye brow; Deficient abdominal wall muscles; Rudimentary scrotum, absent testes; Flexion contracure both hip and knee; Absent patellae both sides; CTEV on right side; Small patent ductus arteriosus; USG- Right PUJ obstruction with hydronephrosis, testes not imaged in inguinal canal or pelvis; EEG- bilateral epileptiform discharges; MRI- complete absence of corpus callosum; Left femoral head dislocated; MCU- dilatation of prostatic urethra, no VUR 1 1 Philippe Campeau
00018535 - - - - ? ? (unknown) ? - 0 - - SBBYSS - 1 1 Philippe Campeau
00018536 - Szakszon et al, AJMG 2013 - M ? ? (unknown) ? - 0 - - SBBYSS Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism. 1 1 Philippe Campeau
00018537 - Szakszon et al, AJMG 2013 - F ? ? (unknown) ? - 0 - - SBBYSS failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification. 1 1 Philippe Campeau
00018538 - - - M ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Hearing loss; Scrotal hypoplasia; Cryptochidism; Hydronephrosis; Patent ductus arteriosus; Patent foramen ovale and; Facial dysmorphisms; Broad nasal bridge; Tracheo/laryngomalacia; Feeding difficulties; Resp distress/apnea; 1 1 Philippe Campeau
00018539 - - - F ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Brachydactyly; Short stature; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Anteriorly positioned anus; Hypoplastic labia minora/majora; Underdeveloped clitoris; Hydronephrosis; Multicystic kidneys; Hypoplastic kidneys; Atrial septal defect; Facial dysmorphisms; Prominent nasal bridge; Teeth anomalies; sparse hair; Tracheo/laryngomalacia; Feeding difficulties; Small bowel malrotation 1 1 Philippe Campeau
00018540 - - - M ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Pelvic anomalies; ; Rib anomalies; Joint laxity; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Isolated seizure; Optic atrophy/cortical visual impairment; Anal atresia/stenosis; Scrotal hypoplasia; Hydronephrosis; Atrial septal defect; Ventricular septal defect; Facial dysmorphisms; Prominent nasal bridge; Retrognatia/micrognatia; full cheeks; ear anomalies; Teeth anomalies; sparse hair; Single palmar crease; Feeding difficulties; Skin laxity/redundance; 1 1 Philippe Campeau
00018541 - - - F ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Subdural hemorrhage; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Facial dysmorphisms; Feeding difficulties; Hypothyroidism; 1 1 Philippe Campeau
00018542 - - - M ? ? (unknown) ? - 0 - - GTPTS Absent or hypoplastic patellae; Flexion deformities; Club feet; Developmental delay or intellectual disability; Absent or thin corpus callosum; Pachygyria ; Subependymal periventricular nodular heterotopia; Anal atresia/stenosis; Rectal duplication; Scrotal hypoplasia; Cryptochidism; Multicystic kidneys; Atrial septal defect; ; 1 1 Philippe Campeau
00018543 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 75 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; 1 1 Philippe Campeau
00018544 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Birth weight 24 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Thyroid abnormal; Height 25 pctile; Weight 50 pctile; OFC 9 pctile; 1 1 Philippe Campeau
00050412 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, delayed speech and language development, specific learning disability, telecanthus, blepharophimosis, microtia 1 1 Johan den Dunnen
00050507 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? blepharophimosis, global developmental delay, congenital ptosis, generalized hypotonia, narrow forehead, bilateral single transverse palmar creases, abnormality of the face, small chin, epicanthus, low-set posteriorly rotated ears 1 1 Johan den Dunnen
00050628 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? cognitive impairment, microcephaly, gait ataxia, slender build, short stature 1 2 Johan den Dunnen
00050641 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, supernumerary nipples, pectus carinatum, global developmental delay, specific learning disability, delayed speech and language development, incomprehensible speech 1 1 Johan den Dunnen
00080993 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - GTPTS Genitopatellar syndrome (OMIM:606170) 1 1 Daniel Trujillano
00176986 - PubMed: [Lonardo 2017] GPS and SBBYSS features present M no - - - 0 - - SBBYSS - 1 1 Philippe Campeau
00176987 - PubMed: [Lundsgaard 2017 ] - F no - - - 0 - - SBBYSS - 1 1 Philippe Campeau
00176989 - PubMed: [Okano 2018] Genitopatellar syndrome (GPS) F no Japan - - 0 - - - - 1 1 Philippe Campeau
00176990 - PubMed: [Vlckova 2015] - F no - - - 0 - - GTPTS, SBBYSS - 1 1 Philippe Campeau
00176993 - PubMed: Li 2017 - M yes - - - 0 - - SBBYSS - 1 1 Philippe Campeau
00176994 - PubMed: Vlckova 2015 - F no Czech Republic - - 0 - - - - 1 1 Philippe Campeau
00177093 - PubMed: [Knight 2018] - M - - - - 0 - - - - 1 1 Philippe Campeau
00177094 - PubMed: [Niida 2017] - M - - - - 0 - - - - 1 1 Philippe Campeau
00177095 Patient 1 in report PubMed: [Szakszon 2013] - M no - - - 0 - - - - 1 1 Philippe Campeau
00177096 Patient 2 in report PubMed: [Szakszon 2013] - F no - - - 0 - - - - 1 1 Philippe Campeau
00177097 Daughter in report PubMed: [Kim 2017] - F no - - - 0 - - - - 1 1 Philippe Campeau
00177098 Father in report PubMed: [Kim 2017] - M - - - - 0 - - - - 1 1 Philippe Campeau
00177099 Uncle in report PubMed: [Kim 2017] - M - - - - 0 - - - - 1 1 Philippe Campeau
00177100 - PubMed: [Marangi 2017] - F - - - - 0 - - - - 1 1 Philippe Campeau
00177101 - PubMed: [Radvanszky 2017] - F - - - - 0 - - - - 1 1 Philippe Campeau
00177102 Patient 1 in report PubMed: [1] - F no - - - 0 - - - - 1 1 Philippe Campeau
00177103 Patient 2 in report PubMed: [Yilmaz 2015] - F yes - - - 0 - - - - 1 1 Philippe Campeau
00177104 Patient 3 in report PubMed: [Yilmaz 2015] - F no - - - 0 - - - - 1 1 Philippe Campeau
00177105 Patient 1 in report PubMed: [Bashir 2017] - M no - - - 0 - - - - 1 1 Philippe Campeau
00177107 Patient 2 in report PubMed: [Bashir 2017] - M no - - - 0 - - - - 1 1 Philippe Campeau
Legend  

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center