Disease #00135 (GTPTS (genitopatellar syndrome (GTPTS)), OMIM:606170)

Official abbreviation GTPTS
Name genitopatellar syndrome (GTPTS)
OMIM ID 606170
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 27
Phenotype entries for this disease 14
Associated with 1 gene KAT6B
Associated tissues -
Disease features -
Remarks -
Date created 2013-05-27 16:24:07 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00018512 - - - F - - - - - - - GTPTS - KAT6B KAT6B 1 1 Jill Clayton-Smith
00018513 - - - M - - - - - - - GTPTS - KAT6B KAT6B 1 1 Jill Clayton-Smith
00018514 - - - M - - - - - - - GTPTS - KAT6B KAT6B 1 1 Jill Clayton-Smith
00018527 - - - F ? - ? - - - - 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; KAT6B KAT6B 1 1 Philippe Campeau
00018528 - PubMed: Simpson et al. - F ? - ? - - - - 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); KAT6B KAT6B 1 1 Philippe Campeau
00018529 - - - F ? - ? - - - - 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 KAT6B KAT6B 1 1 Philippe Campeau
00018530 - - - M ? - ? - - - - 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) KAT6B KAT6B 1 1 Philippe Campeau
00018531 - - - M ? - ? - - - - 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); KAT6B KAT6B 1 1 Philippe Campeau
00018532 - - - F ? - ? - - - - 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 KAT6B KAT6B 1 1 Philippe Campeau
00018534 - - - M ? - ? - - - - 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 KAT6B KAT6B 1 1 Philippe Campeau
00018538 - - - M ? - ? - - - - 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; KAT6B KAT6B 1 1 Philippe Campeau
00018539 - - - F ? - ? - - - - 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 KAT6B KAT6B 1 1 Philippe Campeau
00018540 - - - M ? - ? - - - - 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; KAT6B KAT6B 1 1 Philippe Campeau
00018541 - - - F ? - ? - - - - 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; KAT6B KAT6B 1 1 Philippe Campeau
00018542 - - - M ? - ? - - - - 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; ; KAT6B KAT6B 1 1 Philippe Campeau
00080993 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - GTPTS Genitopatellar syndrome (OMIM:606170) KAT6B KAT6B 1 1 Daniel Trujillano
00295780 - - - M - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295781 - - - M - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295782 - - - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295783 - - - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295804 - PubMed: Gannon 2015 - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295812 - - - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00295814 - - - M - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00296466 - - - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00296467 - - - M - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00296468 - - - F - - - - - - - GTPTS - - KAT6B 1 1 Philippe Campeau
00433149 251508 - - F no Germany - - - - - GTPTS Nevus flammeus, Autistic behavior, Delayed speech and language development KAT6B KAT6B 1 1 Andreas Laner
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