Disease #00388 (KBGS (KBG syndrome (KBGS)), OMIM:148050)

Official abbreviation KBGS
Name KBG syndrome (KBGS)
OMIM ID 148050
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 34
Phenotype entries for this disease 29
Associated with 1 gene ANKRD11
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2014-05-29 10:09:45 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00019951 Fam1PatA-E PubMed: Ockeloen 2015 family, 5 affecteds (2F, 3M) F;M - (Netherlands) white - - - - KBGS - ANKRD11 ANKRD11 1 5 Helger Yntema
00019952 Pat2 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019953 Pat3 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019954 Pat4 PubMed: Ockeloen 2015 - F - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019955 Pat5 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019956 Pat6 PubMed: Ockeloen 2015 - F - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019957 Fam7PatA-C PubMed: Ockeloen 2015 family, 3 affecteds (2F, M) F;M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 3 Helger Yntema
00019958 Pat8 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019959 Pat9;Pat4 PubMed: Ockeloen 2015, PubMed: Monroe 2016 2 generation family, affected twins (F, M), unaffected non carrier parents F - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11, JPH3, ZBTB9 3 2 Helger Yntema
00019960 Pat10 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019961 Pat11 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 1 Helger Yntema
00019962 Fam12PatA-B PubMed: Ockeloen 2015 family, 2 affecteds (2F) F - (Netherlands) - - - - - KBGS - ANKRD11 ANKRD11 1 2 Helger Yntema
00080883 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - KBGS KBG syndrome (OMIM:148050) ANKRD11 ANKRD11 1 1 Daniel Trujillano
00111392 S_079 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - KBGS Feeding difficulties, short stature, microcephaly, moderate to severe ID, facial freckling ANKRD11 ANKRD11 1 1 Bernt Popp
00247794 - Journal: Aspromonte 2019 - M - Italy - - - - - KBGS - ANKRD11, FMR1 ANKRD11 1 1 Maria Cristina Aspromonte
00247796 2338.01 - - F - - - - - - - KBGS - ANKRD11 ANKRD11 1 1 Maria Cristina Aspromonte
00269556 FamPatI1 PubMed: Sirmaci 2011 2-generation family, 3 affected (3M) M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; seizures, mild-moderate intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism ANKRD11 ANKRD11 1 3 Johan den Dunnen
00269557 FamPatII1 PubMed: Sirmaci 2011 - M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; seizures, mild-moderate intellectual disability, attention deficit hyperactivity disorder; delayed bone age; closed spina bifida; cryptorchidism, mild sensorineural hearing loss ANKRD11 ANKRD11 1 1 Johan den Dunnen
00269558 FamPatII2 PubMed: Sirmaci 2011 - M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; moderate intellectual disability; thoracic kyphosis, closed spina bifida; cryptorchidism, epispadias ANKRD11 ANKRD11 1 1 Johan den Dunnen
00269559 Fam2 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Turkey - - - - - KBGS macrodontia; triangular face with pointed chin, low anterior hairline, long palpebral fissures, ptosis, anteverted nostrils, long philtrum, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers, cutaneous syndactyly of fingers and toes; short stature; mild intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism ANKRD11 ANKRD11 1 1 Johan den Dunnen
00269560 Fam3 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Turkey - - - - - KBGS macrodontia; prominent forehead, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, anteverted nostrils, posteriorly rotated ears, long philtrum, short and webbed neck; short hands with clinodactyly of the 5th fingers; no short stature; history of developmental delay, moderate intellectual disability; no costovertebral anomalies; cryptorchidism ANKRD11 ANKRD11 1 1 Johan den Dunnen
00269561 Fam4 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Italy - - - - - KBGS macrodontia; low anterior and posterior hairlines, triangular face, ptosis, hypertelorism, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears, short and webbed neck; short hands with clinodactyly of the 5th fingers, cutaneous syndactyly of fingers and toes; short stature; moderate intellectual disability, hyperactivity, anxiety, poor concentration; accessory cervical ribs ANKRD11 ANKRD11 1 1 Johan den Dunnen
00269562 Fam5 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Italy - - - - - KBGS low anterior and posterior hairlines, triangular face with pointed chin, synophrys, long and downslanting palpebral fissures, ptosis, hypertelorism, prominent nasal bridge, anteverted nostrils, long philtrum, tented upper lip, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; moderate intellectual disability; delayed bone age; no costovertebral anomalies; cryptorchidism ANKRD11 ANKRD11 1 1 Johan den Dunnen
00377570 - - - - - - - - - - - KBGS - - ANKRD11 1 1 Ana Latorre
00382753 184941 - - M no Germany - - - - - KBGS Intellectual disability, Global developmental delay, Absent speech, Seizure, Growth delay, Edema of the dorsum of hands, Edema of the dorsum of feet, Behavioral abnormality ANKRD11 ANKRD11 1 1 Andreas Laner
00401298 045P - - F no Spain - - - - - ID, KBGS - - ANKRD11 1 1 Alejandro Brea-Fernández
00401997 191471 - - M ? Turkey - - - - - KBGS Delayed speech and language development, Poor speech, Neurological speech impairment, Abnormality of higher mental function, Abnormal nervous system physiology, Abnormality of the face ANKRD11 ANKRD11 1 1 Andreas Laner
00414242 199193 - - M - Germany - - - - - KBGS Hypospadias, Hypertelorism, Hearing impairment, Long palpebral fissure, Single transverse palmar crease, Motor delay, Neurodevelopmental delay ANKRD11 ANKRD11 1 1 Andreas Laner
00432294 214326 - - F ? - - - - - - CPPB2, KBGS Generalized non-motor (absence) seizure, Neurodevelopmental delay, Precocious puberty ANKRD11, MKRN3 ANKRD11, MKRN3 2 1 Andreas Laner
00434980 YQL - - F no China East Asia - - - - KBGS High-arch and narrow palate, congenital heart defect; fifth finger brachydactyly, short hands, short feet, scoliosis, intellectual disability, short stature, delayed bone age ANKRD11 ANKRD11 1 1 Dongye He
00443473 275800 - - F - Germany - - - - - KBGS Intrauterine growth retardation, Abnormality of prenatal development or birth, Polyhydramnios, Arteria lusoria ANKRD11 ANKRD11 1 1 Andreas Laner
00445386 proband PubMed: Barbosa 2024 patient with TSC and KBG syndrome F - - - - - - - KBGS, TSC2 Patient also has Hypotonia (HP:0001252), Short stature (HP:0004322), and Dysmorphic features - TSC2 1 1 Tatiana Maroilley
00453447 303049 - - F no Germany - - - - - KBGS Neurodevelopmental delay, Microcephaly, Hypertelorism, Autism, Intellectual disability, Infantile muscular hypotonia ANKRD11 ANKRD11 1 1 Andreas Laner
00464552 - - - M no Israel Ashkenazi Jewish - - - - KBGS - - ANKRD11 1 1 Tamar Ben-Yosef
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