All individuals with variants in gene PPFIA3

20 entries on 1 page. Showing entries 1 - 20.
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00445147 Fam1Pat1 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - white >16y - - - NDD see paper; ...; EEG abnormal; no autism, no autistic features; global delayed development, intellectual disability, epilepsy, strabismus, hypotonia, hyperreflexia, short stature, self-injurious behaviors, aggression, dysmorphisms 1 1 Johan den Dunnen
00445148 Fam2Pat2 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - >13y - - - NDD see paper; ...; EEG abnormal; no autism, no autistic features; delayed development, intellectual disability, epilepsy, strabismus, 27m-right cryptorchidism with orchiopexy, wide-based gait, dysarthric speech, dysmorphisms, abnormal MRI brain findings 1 1 Johan den Dunnen
00445149 Fam3Pat3 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier mother F - - white >22y - - - NDD see paper; ...; EEG abnormal; no autism, no autistic features; global developmental delay, spastic diplegic cerebral palsy, epilepsy, ataxic gait, dysarthria, urinary incontinence, scoliosis, facial dysmorphism; anterior pituitary insufficiency (most likely of ischemic origin) with central hypothyroidism, growth hormone deficiency with short stature, secondary adrenocortical insufficiency, hypogonadotropic hypogonadism, delayed puberty 1 1 Johan den Dunnen
00445150 Fam4Pat4 Journal: Paul 2024 2-generation family, 1 affected F - - white >1y10m - - - NDD see paper; ...; no epilepsy; global developmental delays, dysarthria, autistic features, hypotonia, astigmatism, constipation, dysmorphisms 1 1 Johan den Dunnen
00445151 Fam5Pat5 Journal: Paul 2024 2-generation family, affected, mother/daughter F - - white >5y - - - NDD see paper; ...; no epilepsy; no autism, no autistic features; global delayed development, intellectual disability, hyperreflexia, microcephaly (-3 SD), strabismus, facial features 1 1 Johan den Dunnen
00445152 Fam5Pat6 Journal: Paul 2024 mother F - - white >35y - - - NDD see paper; ...; no epilepsy; microcephaly (-2 SD), hyperthyroidism, history of miscarriages, intellectual disability 1 1 Johan den Dunnen
00445153 Fam6Pat7 Journal: Paul 2024 2-generation family, affected fetus, unaffected non-carrier parents F - - Latino <0d - - - NDD see paper; ..., deceased neonatally, genitourinary malformations, microcephaly, hypoglycemia, hydronephrosis, renal failure, newborn sepsis, feeding difficulties, dysmorphisms including anorectal malformations, absent bladder, bilateral cystic renal dysplasia, cloacal anomaly, anal atresia, ambiguous genitalia 1 1 Johan den Dunnen
00445154 Fam7Pat8 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe;Asia >8y - - - NDD see paper; ...; EEG abnormal; epilepsy; severe global delayed development, severe intellectual disability, macrocephaly, medically refractory epilepsy, dysmorphisms, dysarthria, dysphagia, congenital hypotonia, gastroesophageal reflux disease, constipation, motor stereotypies, mild tremor, infantile exotropia, delayed visual maturation, persistent sialorrhea, hydronephrosis, recurrent UTI’s, frequent pneumonia 1 1 Johan den Dunnen
00445155 Fam8Pat9 Journal: Paul 2024 2-generation family, 1 affected F - - Asia >10y9m - - - NDD see paper; ...; EEG abnormal; autistic features; dysmorphisms; intellectual disability, global delayed development, epilepsy, hypomimia, weak/absent cry, autistic features, nonverbal, nonambulatory, hypertonia, incontinence, strabismus, gastroesophageal reflux disease 1 1 Johan den Dunnen
00445156 Fam9Pat10 Journal: Paul 2024 2-generation family, affected fetus, unaffected non-carrier parents F - - white <0d - - - NDD see paper; ..., 27wg-fetus elective pregnancy termination, abnormal brain gyration, ventriculomegaly with a heart defect (thin aorta, left ventricle larger than right ventricle) ; esophageal atresia with esophago-tracheal fistula 1 1 Johan den Dunnen
00445157 Fam10Pat11 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - Syria Asia >6y11m - - - NDD see paper; ...; no epilepsy; autistic features improved over last few years; global delayed development, intellectual disability, mild dysmorphism 1 1 Johan den Dunnen
00445158 Fam11Pat12 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - white >11y - - - NDD see paper; ...; EEG normal; no epilepsy; no dysmorphisms; global delayed development, intellectual disability, autism spectrum disorder, motor stereotypies, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, hematuria 1 1 Johan den Dunnen
00445159 Fam12Pat13 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white >16y - - - NDD see paper; ...; EEG abnormal; no autism, no autistic features; no dysmorphisms; intellectual disability, epilepsy, Landau Kleffner syndrome mild speech, constipation, thoracolumbar scoliosis, social delay 1 1 Johan den Dunnen
00445160 Fam13Pat14 Journal: Paul 2024 2-generation family, affected monozygotic twins, unaffected non-carrier parents F - - white >5y - - - NDD see paper; ...; no epilepsy; no dysmorphisms; speech delay, social delay, microcephaly, nonverbal, autism, mixed receptive-expressive language disorder, constipation, anxiety 1 1 Johan den Dunnen
00445161 Fam13Pat15 Journal: Paul 2024 twin F - - white >5y - - - NDD see paper; ...; no epilepsy; no autism, no autistic features; no dysmorphisms; gross motor delay, speech delay, speech apraxia, hypotonia, receptive-expressive language disorder, plagiocephaly, microcephaly, torticollis, constipation, migraines, motor apraxia, difficulty with depth perception 1 1 Johan den Dunnen
00445162 Fam14Pat16 Journal: Paul 2024 2-generation family, 1 affected M - - white >23y - - - NDD see paper; ...; global developmental delay, intellectual disability, hypotonia, autistic features, motor delay, motor incoordination, speech delay, hypermetropic, monocular exotropia, ADHD 1 1 Johan den Dunnen
00445163 Fam15Pat17 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white >13y11m - - - NDD see paper; ...; EEG abnormal; no epilepsy; global developmental delay, intellectual disability, speech delay, macrocephaly, dysarthria, hypotonia, autism, astigmatism, dysmorphisms 1 1 Johan den Dunnen
00445164 Fam16Pat18 Journal: Paul 2024 2-generation family, 1 affected F - - white >9y9m - - - NDD see paper; ...; EEG abnormal; no epilepsy; no autism, no autistic features; global delayed development, impulsive behavior, delayed speech, hypotonia, dysmorphisms including bilateral epicanthus vanished over years, right ear slightly different from left ear, protruding bilateral costal arch 1 1 Johan den Dunnen
00445165 Fam17Pat19 Journal: Paul 2024 2-generation family, affected mother/daughter, unaffected non-carrier parents M - - white >7y8m - - - NDD see paper; ...; EEG normal; no epilepsy; dysmorphisms; delayed attainment of developmental milestones, intellectual disability, speech delay, dysarthria, hypotonia, microcephaly, bilateral clinodactyly 1 1 Johan den Dunnen
00445166 Fam18Pat20 Journal: Paul 2024 2-generation family, 1 affected, unaffected carrier parents M - - white >9y - - - NDD see paper; ...; EEG abnormal; severe global developmental delay, intellectual disability, dystonic diplegia, dysarthria, hypotonia, epilepsy, dysmorphisms, microcephaly, autistic features, severe emotional lability, ataxic gait, lower limb hypertonia, strabismus, exotropia 2 1 Johan den Dunnen
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