All individuals with variants in gene ARFGEF1

21 entries on 1 page. Showing entries 1 - 21.
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00465923 332969 - - M no ? (unknown) - - - - - ID Developmental regression, Autistic behavior, Macrotia, Prominent forehead 1 1 Andreas Laner
00465936 patient PubMed: Teoh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - seizures see paper; ..., 6m-seizures, infantile spasms; 3y-generalized convulsions, myoclonic seizures, tonic seizures, atonic seizures, global developmental delay, axial hypotonia, no speech, no meaningful vocalizations, unable to pull to stand, unable to support own weight; no dysmorphic features; EEG hypsarrhythmia, infantile spasms 1 1 Johan den Dunnen
00465937 Pat1 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M no France - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; behavioral problems; psychomotor agitation; moderate intellectual disability; cerebellar ataxia; no neurosensory disorders; MRI thin corpus callosum; wide mouth, high forehead, low-set ears; no epilepsy 1 1 Johan den Dunnen
00465938 Pat2 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - NDD see paper; ..., motor delay; speech delay; moderate delay; behavioral problems; autism spectrum disorders; mild intellectual disability; no neurological features; no neurosensory disorders; MRI mild myelination delay; frontal bossing, triangular face, facial hypertrichosis, pointed frontal hairline, thick eyebrows, short philtrum, protruding incisor teeth, generalized hirsutism, long face, wide mouth, low-set large ears; no epilepsy 1 1 Johan den Dunnen
00465939 Pat3 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; no behavioral problems; Intellectual functions at lower limit; Impaired fine motor skills, slight balance disorder, left laryngeal paralysis; limitation abductionleft eye with strabismus; no neurosensory disorders; MRI occipital meningocele, disrupted superior cerebellar vermis, bilateral asymmetrical nodular heterotopias; no dysmorphic features; no epilepsy 1 1 Johan den Dunnen
00465940 Pat4 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; behavioral problems; aggressivity, temper tantrums; moderate intellectual disability; no neurological features; no neurosensory disorders; MRI normal; no dysmorphic features; febrile seizures, generalized tonic–clonic seizures, atonic seizures, myoclonic and absence seizures, drug-resistant epilepsy 1 1 Johan den Dunnen
00465941 Pat5 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - NDD see paper; ..., motor delay; no speech delay; -; behavioral problems; hyperactivity, aggressivity, obsessive compulsive behaviors; no intellectual disability; hypotonia; no neurosensory disorders; MRI normal; no dysmorphic features; generalized tonic–clonic seizures, febrile seizures, myoclonic, atonic, drug-resistant epilepsy 1 1 Johan den Dunnen
00465942 Pat6 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected, unaffected non-carrier parents M yes - - - - - - NDD see paper; ..., motor delay; speech delay; mild delay; behavioral problems; attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; hyperopia, high astigmatism; MRI normal; generalized tonic–clonic seizures 1 1 Johan den Dunnen
00465943 Fam1Pat7 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 2 affected (father/child) M no - - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; behavioral problems; temper tantrums, anger bursts, severe psychomotor agitation, distractibility, attention disorders, enuresis, encopresis; moderate intellectual disability; Impaired fine and gross motor skills, balance disorders, dysarthria; no neurosensory disorders; MRI pineal cyst, low-set cerebellar tonsils; hypotonic long face, wide mouth, large ears, bulbous nose tip; generalized tonic–clonic seizures, febrile seizures, myoclonic, atonic 1 2 Johan den Dunnen
00465944 Fam2Pat8 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 6 affected (2F, 4M), son M no - - - - - - NDD see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism disorders, anxiety, aggressivity; mild intellectual disability; impaired fine motor skills, mild cerebellar ataxia, dysarthria; hyperopia; MRI subcortical white matter T2 signal hyperintensity congruent with myelination delay; high forehead, large ears; no epilepsy 1 6 Johan den Dunnen
00465945 Fam2Pat9 PubMed: Thomas 2021, Journal: Thomas 2021 daughter F no - - - - - - NDD see paper; ..., no motor delay; speech delay; severe delay; behavioral problems; anxiety, attention disorders,; mild intellectual disability; action tremor; hyperopia, astigmatism; MRI subcortical white matter T2 signal hyperintensity congruent with myelination delay; high forehead, bulbous nose tip; no epilepsy 1 1 Johan den Dunnen
00465946 Fam3Pat10 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 3 affected (father2 sons) M no - - - - - - NDD see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism spectrum disorder, hyperactivity; moderate intellectual disability; no neurological features; no neurosensory disorders; brachycephaly, long and thin fingers, plagiocephaly, low-set large ears; no epilepsy 1 3 Johan den Dunnen
00465947 Fam3Pat11 PubMed: Thomas 2021, Journal: Thomas 2021 son M no - - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; behavioral problems; attention disorder; no intellectual disability; impaired fine motor skills; astigmatism, hyperopia; long and thin fingers, large ears; no epilepsy 1 1 Johan den Dunnen
00465948 Pat12 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected M no - - - - - - NDD see paper; ..., motor delay; speech delay; mild delay; behavioral problems; aggressive behavior, alcohol addiction; mild intellectual disability; no neurological features; strabismus; small and low-set ears, long and thin fingers; no epilepsy 1 1 Johan den Dunnen
00465949 Pat13 PubMed: Thomas 2021, Journal: Thomas 2021 2-generation family, 1 affected M no - - - - - - NDD see paper; ..., motor delay; speech delay; severe delay; behavioral problems; oppositional defiant disorder, aggressivity, attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; mild unilateral hearing impairment; MRI type 1 Arnold-Chiari malformation; no dysmorphic features; absence seizures 1 1 Johan den Dunnen
00465950 Pat1 PubMed: Xu 2022, Journal: Xu 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD see paper; ..., speech delay; motor delay; no behavioural problems; intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal 1 1 Johan den Dunnen
00465951 Pat2 PubMed: Xu 2022, Journal: Xu 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD see paper; ..., mild speech delay; mild motor delay; behavioural problems; mild intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal 1 1 Johan den Dunnen
00465952 Pat3 PubMed: Xu 2022, Journal: Xu 2022 2-generation family, affected mother/son M - China - - - - - NDD see paper; ..., birth hypoxia asphyxia; moderate speech delay; severe motor delay; autism spectrum disorder; intellectual disability; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal; EEG abnormal; mother has developmental delay and intellectual disability 1 2 Johan den Dunnen
00465953 Pat4 PubMed: Xu 2022, Journal: Xu 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD see paper; ..., moderate speech delay; moderate motor delay; no behavioural problems; severe intellectual disability; no neurological features; strabismus; no facial dysmorphisms; epilepsy; MRI normal; EEG abnormal 1 1 Johan den Dunnen
00465954 Pat5 PubMed: Xu 2022, Journal: Xu 2022 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NDD see paper; ..., severe speech delay; severe motor delay; no behavioural problems; severe intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI abnormal; EEG abnormal 1 1 Johan den Dunnen
00465955 DDD4K.02432 PubMed: DDD 2017, Journal: DDD 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
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