All individuals with variants in gene POU3F2

12 entries on 1 page. Showing entries 1 - 12.
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00436130 Fam1Pat1 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, affected mother/son, unaffected non-carrier parents M - Germany - - - - - NDD onset infancy; neurodevelopmental delay; obesity; hyperphagia; diabetes; CAKUT (hydro-nephrosis); prominent occiput (HP:0011220); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); thin upper lip vermilion (HP:0000219); no thick lower lip vermilion (-HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); dolichocephaly; prominent glabella; mild speech delay; mild motor delay; moderate learning disabilities; special school; mild intellectual disability; no epilepsy; formal diagnosis of Autism Spectrum Disorder and ADHD, stereotypic behavior, social distancing 1 2 Johan den Dunnen
00436131 Fam1Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 mother F - Germany - - - - - NDD no neurodevelopmental delay; obesity; hyperphagia; diabetes; no uro-renal anomalies; prominent occiput (HP:0011220); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); prominent glabella; no speech delay; no motor delay; mild learning disabilities; middle school; no epilepsy 1 1 Johan den Dunnen
00436132 Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset postnatal; neurodevelopmental delay; obesity; hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; neonatal hypotonia; no feeding difficulties infancy; severe speech delay; mild motor delay; moderate-severe learning disabilities; middle school, 6y-special school; moderate intellectual disability; epilepsy; absent language, stereotypy, poor eye contact, compulsive eating behavior, poor communication skills 1 1 Johan den Dunnen
00436133 Pat3 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset toddler; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); no thick eyebrow (-HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); no depressed nasal bridge (-HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); short philtrum (HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); arched eyebrow; wide nasal bridge; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; preschool; no intellectual disability; no epilepsy; emotional dysregulation, sensory seeking and/or attention seeking behaviors like hitting head, temper tantrums, aggressive behavior with tantrums, high risk for elopement, difficulty with sound pronunciation, possible processing difficulty, challenges with conversation and reciprocal exchanges, fine motor delays 1 1 Johan den Dunnen
00436134 Pat4 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; prominent occiput (HP:0011220); thick eyebrow (HP:0000574); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); no upper eyelid, fullness of (-HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); short philtrum (HP:0000322); thin upper lip vermilion (HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); synophris; arched eyebrow; wide nasal bridge; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; severe speech delay; mild motor delay; severe learning disabilities; special school; mild intellectual disability (IQ55); no epilepsy; reduced frustration tolerance, short attention span 1 1 Johan den Dunnen
00436135 Fam5Pat1 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, affected father/son, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; CAKUT (ureter duplex, dysplastic kidneys); no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; no learning disabilities; elementary school; no intellectual disability; no epilepsy 1 2 Johan den Dunnen
00436136 Fam5Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 father M - - - - - - - NDD neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; neurogenic bladder; 1 1 Johan den Dunnen
00436137 Pat6 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; middle school; no intellectual disability; no epilepsy 1 1 Johan den Dunnen
00436138 Pat7 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; feeding difficulties infancy; moderate speech delay; severe motor delay; severe learning disabilities; no school (special education); moderate intellectual disability; epilepsy 1 1 Johan den Dunnen
00436139 Pat8 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); thick eyebrow (HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); no depressed nasal bridge (-HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); thick ala nasi (HP:0009928); no broad philtrum (-HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); no thick lower lip vermilion (-HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); strabismus; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; moderate speech delay; mild motor delay; moderate learning disabilities; middle school (regular school with special needs); moderate intellectual disability (IQ44); no epilepsy; rituals, mannerisms, unusual interests, Social Communication Questionnaire (SCQ) score 1 1 1 Johan den Dunnen
00436140 Pat9 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); no thick eyebrow (-HP:0000574); widely spaced eyes (HP:0000316); epicanthus (HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); no short philtrum (-HP:0000322); thin upper lip vermilion (HP:0000219); no thick lower lip vermilion (-HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); sparse lateral eyebrow; arched eyebrow; wide nasal bridge; small mouth; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; regular primary school, special school (secondary school); moderate intellectual disability; no epilepsy; formal diagnosis of Autism Spectrum Disorder and ADHD, lack of danger awareness, dislike of busy areas and new places, dislike of the everyday demands of life, obsessive behavior, sensory aversions, meltdowns, sleep difficulties, behavioural difficulties (screaming, shouting and meltdowns) 1 1 Johan den Dunnen
00436141 Pat10 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; microcephaly; no uro-renal anomalies; prominent occiput (HP:0011220); no thick eyebrow (-HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); anteverted nares (HP:0000463); thick ala nasi (HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no abnormality outer ear (-HP:0000356); prominent glabella; neonatal hypotonia; no feeding difficulties infancy; moderate speech delay; moderate motor delay; moderate-severe learning disabilities; special education program; moderate-severe intellectual disability; no epilepsy; delayed speech, behavioral difficulties (tantrums) 1 1 Johan den Dunnen
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