All individuals with variants in gene POGZ

56 entries on 1 page. Showing entries 1 - 56.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00019908 - PubMed: Gilissen 2014, PubMed: Stessman 2016, Journal: Stessman 2016 - M ? Netherlands - - - - - ID microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Marianne Vos (LOVD-team)
00050556 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? iris coloboma, global developmental delay, behavioural/psychiatric abnormality, hypoglycemic seizures, abnormality of the outer ear 1 1 Johan den Dunnen
00050697 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? bilateral sensorineural hearing impairment, generalized neonatal hypotonia, generalized hypotonia, decreased electroretinogram (erg) amplitude, reduced amplitude of b-wave (erg), abnormality of vision evoked potentials, global developmental delay, cerebral atrophy, thin corpus callosum 1 1 Johan den Dunnen
00065184 26942287 UMCN1 PubMed: Stessman 2016, Journal: Stessman 2016 - F - Netherlands - >05y - - - ID mild autism (HP:0000729), Microcephaly (HP:0000252), no abnormality of vision (-HP:0000252),; severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065187 26942287 UMCN3 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >09y - - - autism, ID mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065191 26942287 UMCN4 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >06y - - - autism, ID mild autism (HP:0000729), no microcephaly (-HP:0000252), Feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065194 26942287 UMCN5 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >02y - - - autism, ID mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065195 26942287 UMCN6 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >12y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065196 26942287 UMCN7 PubMed: Stessman 2016, Journal: Stessman 2016 - F - Netherlands - >05y - - - autism, ID autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065197 26942287 UMCN8 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >26y - - - ID no autism (-HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065198 26942287 UMCN9 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >08y - - - ID no autism (-HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065199 26942287 UMCN10 PubMed: Stessman 2016, Journal: Stessman 2016 - F - Netherlands - >11y - - - ID no autism (-HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065200 26942287 EE3 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >19y - - - ID no autism (-HP:0000729), no microcephaly (-HP:0000252), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Pieter Klap
00065201 26942287 EE4 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >12y - - - ID no autism (-HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065202 26942287 FR1 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >04y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252),no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065203 26942287 FR2 PubMed: Stessman 2016, Journal: Stessman 2016 - F - France - >11y - - - ID no autism (-HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065204 26942287 FR3 PubMed: Stessman 2016, Journal: Stessman 2016 - F - France - >06y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065205 26942287 FR4 PubMed: Stessman 2016, Journal: Stessman 2016 - F - France - >06y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065206 26942287 FR5 PubMed: Stessman 2016, Journal: Stessman 2016 - M - France - >24y - - - ID no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065208 26942287 FR6 PubMed: Stessman 2016, Journal: Stessman 2016 - M - France - >17y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065209 26942287 EE9 PubMed: Stessman 2016, Journal: Stessman 2016 parents not available M - - - >00y11m - - - ID mild intellectual disability (HP:0001256) 1 1 Pieter Klap
00065210 26942287 EE1 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >08y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065211 26942287 EE2 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >14y - - - autism, ID autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); mild speech delay (HP:0000750) 1 1 Pieter Klap
00065212 26942287 EE5 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >21y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), mild obesity tendency (HP:0001513); moderate intellectual disability (HP:0002342); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00065213 26942287 EE6 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >07y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065214 26942287 EE7 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >07y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Pieter Klap
00065216 26942287 EE8 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >06y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750) 1 1 Pieter Klap
00074613 26739615 pt.2 PubMed: White 2016, Journal: White 2016 - F - (United States) - >00y31m - - - ID Sensorineural hearing impairment (HP:0000407), Cortical visual impairment (HP:0100704), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Strabismus (HP:0000486), Abnormality of malar bones (HP:0012369), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Pointed chin (HP:0000307), Low-set, posteriorly rotated ears (HP:0000368), Short neck (HP:0000470), Joint laxity (HP:0001388), Muscular hypotonia (HP:0001252), Delayed myelination (HP:0012448), Congenital diaphragmatic hernia (HP:0000776), Patent ductus arteriosus (HP:0001643), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00074614 26739615 pt.3 PubMed: White 2016, Journal: White 2016 - M - (United States) - >03y10m - - - autism, ID Astigmatism (HP:0000483), Hypermetropia (HP:0000540), Focal seizures with impairment of consciousness or awareness (HP:0002384), Strabismus (HP:0000486), Abnormality of malar bones (HP:0012369), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Bifid uvula (HP:0000193), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252),; intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00074615 26739615 pt.4 PubMed: White 2016, Journal: White 2016 - F - (United States) - >05y - - - ID Sensorineural hearing impairment (HP:0000407), Rod-cone dystrophy (HP:0000510), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Abnormality of malar bones (HP:0012369), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Downturned corners of mouth (HP:0002714), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Posteriorly rotated ears (HP:0000358), Mandibular prognathia (HP:0000303), Sleep apnea (HP:0010535); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00074616 26739615 pt.5 PubMed: White 2016, Journal: White 2016 - F - (United States) - >04y07m - - - autism, ID Sensorineural hearing impairment (HP:0000407), Astigmatism (HP:0000483), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Cleft palate (HP:0000175), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252), Dandy-Walker malformation (HP:0001305), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081), Global developmental delay (HP:0001263), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00074621 27148570 pt.1 PubMed: Ye 2015, Journal: Ye 2015 - M - - - >08y - - - ID Muscular hypotonia (HP:0001252), no migraines (-HP:0002076), Polymicrogyria (HP:0002126), Abnormal facial shape (HP:0001999), Syndactyly (HP:0001159), Scoliosis (HP:0002650); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Pieter Klap
00074623 27148570 pt.2 PubMed: Ye 2015, Journal: Ye 2015 - F - - - >10y - - - ID Muscular hypotonia (HP:0001252), Migraine (HP:0002076), Episodic vomiting (HP:0002572), Abnormal facial shape (HP:0001999), Autism (HP:0000717), Anxiety (HP:0000739), Stereotypic behavior (HP:0000733); borderline intellectual disability (HP:0006889); global developmental delay (HP:0001263); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Pieter Klap
00074624 27148570 pt.3 PubMed: Ye 2015, Journal: Ye 2015 - M - - - >05y - - - ID Muscular hypotonia (HP:0001252), Cerebellar dysplasia (HP:0007033), Abnormality of the periventricular white matter (HP:0002518), Episodic vomiting (HP:0002572), Abnormal facial shape (HP:0001999), Failure to thrive (HP:0001508); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Pieter Klap
00074625 27148570 pt.4 PubMed: Ye 2015, Journal: Ye 2015 - M - - - >16y - - - ID no abnormality of brain morphology (-HP:0012443), Abnormal facial shape (HP:0001999), Obesity (HP:0001513), Mild finger syndactyly (HP:0006101); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00074628 27148570 pt.5 PubMed: Ye 2015, Journal: Ye 2015 - M - - - >10y - - - ID Abnormal facial shape (HP:0001999), Broad palm (HP:0001169), Broad thumb (HP:0011304); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Pieter Klap
00081455 - PubMed: White 2016, Journal: White 2016 father not available F - (United States) - - - - - ID no sensorineural hearing impairment (-HP:0000407), mild myopia (HP:0000545), no seizures (-HP:0001250), Short stature (HP:0004322), no microcephaly (-HP:0000252), brachycephaly (HP:0000248), hypoplasia of midface (HP:0011800), no strabismus (-HP:0000486), no optic nerve hypoplasia (-HP:0000609), long and flat malar region (HP:0012369), depressed nasal bridge (HP:0005280), broad nasal tip (HP:0000455), short philtrum (HP:0000322), thin vermilion border (HP:0000233), downturned corners of mouth (HP:0002714), high arched palate (HP:0000218), pointed chin (HP:0000307), ears with over-folded superior helices, no micorgnathia, prognathism, short neck, no brachydactyly, joint laxity, hypotonia, normal brain MRI, sleep apnea, no congenital malformations; intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Johan den Dunnen
00081456 - PubMed: Ye 2015, Journal: Ye 2015 - F - United States - - - - - ID hypotonia, migraines, OFC (10-25th), no brain abnormality, walk 1y8m, talk 1y2m, cyclic vomitting, dysmorphic, broad toes, thumbs, spatulate fingers, ADHD; intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Johan den Dunnen
00081457 - PubMed: Ye 2015, Journal: Ye 2015 - M - United States - - - - - ID hypotonia, congenital OFC (<5th), cortical atrophy, atrophy corpus callosum, no walk 1y, no talk 1y, no cyclic vomitting, not dysmorphic, adducted thumbs, bilateral hearing loss; global developmental delay (HP:0001263) 1 1 Johan den Dunnen
00168114 - PubMed: Du 2018 - M - China - - - - - autism - 1 1 Fei Li
00174400 - - - F - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00276044 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Obesity (HP:0001513); Short stature (HP:0004322) 1 1 IMGAG
00287094 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Short attention span (HP:0000736); Behavioral abnormality (HP:0000708); Increased body weight (HP:0004324); Aggressive behavior (HP:0000718); Uterus didelphys (HP:0003762); Autism (HP:0000717) 1 1 IMGAG
00287101 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00295923 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Bilateral talipes equinovarus (HP:0001776); Eosinophilia (HP:0001880); Aganglionic megacolon (HP:0002251); Aplasia involving bones of the upper limbs (HP:0009823) 1 1 Andreas Laner
00409821 195198 - - M no Germany - - - - - WHSUS;MRD37 Delayed speech and language development, Cryptorchidism, Mild microcephaly, Brachycephaly, Gait disturbance 1 1 Andreas Laner
00440388 PED2757.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440391 PED2847.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00443837 Pat612 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound M - Netherlands - - - - - ? pulmonary atresia, ventricular septal defect, overriding aorta, dysmaturity, glandular hypospadias, dysmorphic features 1 1 Johan den Dunnen
00448489 286202 - - M no Germany - - - - - WHSUS;MRD37 Short stature, Neurodevelopmental delay, Impulsivity, Delayed speech and language development, Impaired social interactions, Enuresis, Self-injurious behavior, Aggressive behavior, Abnormal eating behavior, Smooth philtrum, Thin upper lip vermilion 1 1 Andreas Laner
00449747 - - - F - - (not applicable) white - - - - ID HP:0001263, HP:0000252, HP:0000271, HP:0000286, HP:0000316, HP:0001999, HP:0000463, HP:0000431 1 1 Marketa Wayhelova
00457850 - - - M - - (not applicable) white - - - - ID HP:0001249, HP:0000717 1 1 Marketa Wayhelova
00458062 311870 - - F no Germany - - - - - WHSUS;MRD37 Neurodevelopmental delay, Intellectual disability, Intellectual disability, mild, Atypical behavior, Obesity, Amblyopia, Polyphagia, Self-injurious behavior 1 1 Andreas Laner
00458264 - - - M - - (not applicable) white - - - - ID HP:0002342, HP:0001513 1 1 Marketa Wayhelova
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