All individuals with variants in gene FOXP1

36 entries on 1 page. Showing entries 1 - 36.
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00001385 - - Hypoplastic left heart syndrome with mitral atresia and aortic atresia. F - - African American - - - - CHD, HLHS2 - 1 1 Vidu Garg
00001386 - - Unbalanced atrioventricular septal defect with pulmonary atresia and single ventricle (heterotaxy) M - - hispanic - - - - AVSD, CHD - 1 1 Vidu Garg
00050398 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? low-set posteriorly rotated ears, abnormality of the pinna, congenital bilateral ptosis, myopia, downturned corners of mouth, curly hair, clinodactyly of the 5th finger, single transverse palmar crease, sparse scalp hair, increased laxity of fingers, global developmental delay, delayed speech and language development 1 1 Johan den Dunnen
00050509 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, ulnar deviation of the hand, hypotelorism, downslanted palpebral fissures, elbow flexion contracture, knee flexion contracture, thickened skin 1 1 Johan den Dunnen
00050554 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? macrocephaly, bifid uvula, u-shaped upper lip vermilion, aggressive behavior, self-mutilation, tapered finger, small nail, cupped ear, abnormal size of the palpebral fissures, sleep disturbance, long philtrum 1 1 Johan den Dunnen
00050649 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? duane anomaly, dandy-walker malformation, anal fistula, global developmental delay, abnormality of the face, cryptorchidism, abnormality of the ear, bilateral single transverse palmar creases, frontal bossing, prominent fingertip pads, abnormality of limb bone morphology, epicanthus, preauricular pit, downslanted palpebral fissures, deeply set eye, agenesis of cerebellar vermis, enlarged cisterna magna 1 1 Johan den Dunnen
00080795 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - BCNS, MRLIAF Basal cell nevus syndrome (OMIM: 109400), Mental retardation with language impairment and with or without autistic features (OMIM: 613670) 1 1 Daniel Trujillano
00132968 - - - M - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00147130 30631761-Pat38_S2 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, autism spectrum disorder 1 1 Joonhong Park
00152128 Pat9 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Germany - 01y01m - - - CPCMR ventricular septal defect (HP:0011682); secundum atrial septal defect (HP:0001684); pulmonary vein stenosis (HP:0005304); frontal bossing (HP:0002007); high frontal hairline (HP:0009890); bitemporal narrowing (HP:0000341); short palpebral fissures (HP:0012745); hypertelorism (HP:0000316); full cheeks (HP:0000293); low nasal bridge (HP:0005280); anteverted nares (HP:0000463); small mouth (HP:0000160); microcephaly (HP:0000252); short stature (HP:0004322); intellectual disability, profound (HP:0002187); duodenal stenosis (HP:0100867); feeding difficulties (HP:0011968); hypothyroidism (HP:0000851); inguinal hernia (HP:0000023) 1 1 Jeroen Breckpot
00275861 Pat01/Pat8 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech M - - - - - - - SPCH childhood apraxia of speech; late onset language use; IQ below average; gross or fine motor impairment; oral nonverbal motor impairment 1 1 Johan den Dunnen
00293469 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293470 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00293471 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307737 UK10K_FINDWGA5411548 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - ID - 1 1 Johan den Dunnen
00310373 Case 1 PubMed: Kaiwar 2017 - M ? - - - - - - neuropathy, optic Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00331314 171071 - - M - Germany - - - - - MR;ID (+) Cryptorchidism,(+) Hypertelorism,(+) High forehead,(+) Downslanted palpebral fissures,(+) Delayed speech and language development,(+) Single transverse palmar crease,(+) Global developmental delay 1 1 Andreas Laner
00374739 S-2710 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00375566 179723 - - M ? Turkey - - - - - MRD (+) Inguinal hernia,(+) Abnormality of prenatal development or birth,(+) Hypotonia,(+) Global developmental delay,(+) Premature birth,(+) EEG abnormality,(+) Abnormal muscle tone,(+) Hernia of the abdominal wall,(+) Neurodevelopmental delay,(+) Abnormality of central nervous system electrophysiology 1 1 Andreas Laner
00375607 Pat1 PubMed: Hamdan 2010 2-generation family, 1 affected, unaffected non-carrier parents F - Canada French-Canadian - - - - ID mental retardation, language impairment, autistic features 1 1 Johan den Dunnen
00375608 Pat2 PubMed: Hamdan 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Canada French-Canadian - - - - ID mental retardation, language impairment, autistic features, Jejunal and ileal atresia 1 1 Johan den Dunnen
00375609 patient PubMed: Le Fevre 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - - - - - ID see paper; ..., up to 6m failure to thrive; prominent forehead; down slanted palpebral fissures; short nose, broad tip; prominent digit pads; bilateral clinodactily of fourth toes 1 1 Johan den Dunnen
00375610 Pat41 PubMed: Srivastava 2013 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - ID intellectual disability/developmental delay; macrocephaly; hypotonia; MRI brain delayed myelination, periventricular white matter changes 1 1 Johan den Dunnen
00375611 Pat1 PubMed: Sollis 2016 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID mild intellectual disability; autistic features present; attention deficit hyperactivity disorder; speech/language impairment or delay; anxiety; obsessions/compulsions; motor delays; hypotonia; macrocephaly; sensory integration disorder, mild leukomalacia 1 1 Johan den Dunnen
00375612 Pat2 PubMed: Sollis 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - ID mild/moderate intellectual disability; pervasive developmental disorder not otherwise specified; attention deficit hyperactivity disorder; speech/language impairment or delay; no regression; obsessions/compulsions; motor delays; hypotonia; no macrocephaly; sensory integration disorder, hypertelorism, strabismus, enuresis 1 1 Johan den Dunnen
00375613 Pat3 PubMed: Sollis 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - ID severe intellectual disability; pervasive developmental disorder not otherwise specified; no attention deficit hyperactivity disorder; speech/language impairment or delay; no regression; anxiety; obsessions/compulsions; aggression; motor delays; hypotonia; no macrocephaly; hypertelorism, nystagmus 1 1 Johan den Dunnen
00375614 patient PubMed: O'Roak 2011 - - - - - - - - - autism - 1 1 Johan den Dunnen
00375615 patient PubMed: Lozano 2015 - F - - - - - - - ID see paper; ..., autism, intellectual disability, severe speech and language impairment 1 1 Johan den Dunnen
00375624 Pat4 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 3,742kg; height SD0; weight SD0; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; sensory integration problems, hyperarousal, short attention; no broad forehead; low-set, posteriorly rotated ears (right); no upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; no small hands; no small feet; no hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus, astigmatism, CVI; no hypoplastic nails; no recurrent infections 1 1 Johan den Dunnen
00401507 121P - - F no Spain - - - - - ID, MRLIAF - 1 1 Alejandro Brea-Fernández
00433151 - - - F no Italy - - - - - NDD Language delay, severe psychomotor delay 1 1 Pietro Palumbo
00435255 260872 - - M no Germany - - - - - MRLIAF, RSTS Intellectual disability, Autistic behavior, Motor tics, Short stature, Neurodevelopmental delay, Tip-toe gait, 2-3 toe syndactyly, Abnormality of the face, Pes planus; mother and 3 brothers with syndactyly II and III bilateral 1 1 Andreas Laner
00444499 Pat;Pat1 PubMed: Vuillaume 2018, PubMed: Riquin 2023 patient F - France - - - - - NDD see paper; ..., intellectual disability severe (IQ 20), global developmental delay, hypotonia, absent speech, autism; 7y-epilepsy; cerebral MRI: small periventricular heterotopia and dilated, cortical veins, extensive naevus; height -1.7 SD, weight +0.5 SD 1 1 Johan den Dunnen
00457912 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0000271, HP:0004322, HP:0000486, HP:0000821 1 1 Marketa Wayhelova
00458245 - - - M - - (not applicable) white - - - - NDD HP:0000028, HP:0001263, HP:0000486, HP:0000750, HP:0000271 1 1 Marketa Wayhelova
00465971 334348 - - M no Germany - - - - - ID Axial hypotonia, Facial hypotonia, Motor delay, Delayed speech and language development, Neurodevelopmental delay, Oral motor hypotonia, Weak voice, Drooling, Hypotonia 1 1 Andreas Laner
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