All individuals with variants in gene FRA10AC1

11 entries on 1 page. Showing entries 1 - 11.
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00458561 Fam1Pat1 PubMed: von Elsner 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins) F yes - Arab - - - - NDD see paper; ..., height 85cm (Z-2.8), weight 9.4kg (Z-3.4), OFC 45cm (Z-4.1); severe motor delay, nonambulatory; profound intellectual disability; severe muscular hypotonia; seizures; corpus callosum agenesis, mild hydrocephalus internus; craniofacial dysmorphism; short sternum; contracture of left elbow; ulnar deviation of left hand; proximal placement of thumbs; bilateral 5th finger clinodactyly; feeding problems; gastric feeding tube; recurrent airway infections 1 1 Johan den Dunnen
00458562 Fam2Pat2 PubMed: von Elsner 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins) F yes - Arab - - - - NDD see paper; ..., height 109cm (Z-4.3), weight 15kg (Z-5.3), OFC 47cm (Z-4.8); moderatemotor delay, 3y-walk; profound intellectual disability( IQ35); muscular hypotonia; no seizures; behavioural problems; partial agenesis corpus callosum,colpocephaly, unilateral retroorbital cyst; craniofacial dysmorphism; bilateral 5th finger clinodactyly; feeding problems; early childhood recurrent airway infections 1 1 Johan den Dunnen
00458563 Fam3Pat3-1 PubMed: von Elsner 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents (2nd degree cousins) M yes Egypt Arab - - - - NDD see paper; ..., height 134cm (Z-4.8), weight 32kg (Z-3.9), OFC 50.3cm (Z-3.8); no motor delay; mild intellectual disability (IQ68); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes; growth hormone deficiency; anaemia 1 3 Johan den Dunnen
00458564 Fam3Pat3-2 PubMed: von Elsner 2022 brother M yes Egypt Arab - - - - NDD see paper; ..., height 113.5cm (Z-4.2), weight 20.5kg (Z-3.6), OFC 49.4cm (Z-3.1); motor delay during infancy; borderline intellectual disability (IQ77); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes; growth hormone deficiency 1 1 Johan den Dunnen
00458565 Fam3Pat3-3 PubMed: von Elsner 2022 brother M yes Egypt Arab - - - - NDD see paper; ..., height 109cm (Z-2.9), weight 19kg (Z-1.8), OFC 50cm (Z-2.0); no motor delay; borderline intellectual disability (IQ77); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes 1 1 Johan den Dunnen
00458566 Fam1Pat1 PubMed: Banka 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - NDD see paper; ..., normal pregnancy; global developmental delay, mild motor delay, moderate intellectual disability, 2y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect; ventricular septum defect; no feeding difficulties; height (-1.6); myopia, esotropia 1 2 Johan den Dunnen
00458567 Fam1Pat2 PubMed: Banka 2022 sister F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., neonatal feeding problems; global developmental delay, moderate motor delay, moderate intellectual disability, 4y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; cleft palate; infancy feeding difficulties; height (-3.6); minor skeletal anomalies, umbilical hernia, mild sensorineural hearing loss 1 1 Johan den Dunnen
00458568 Fam2Pat1 PubMed: Banka 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., neonatal feeding problems, hypotonia; birth weight (-5.1); global developmental delay, moderate-severe motor delay, moderate-severe intellectual disability, 5y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect, ventricular septum defect, hypoplastic descending aorta; infancy feeding difficulties; Nissen fundoplication; percutaneous gastrostomy; 9y-absence seizures, knee dislocations 1 1 Johan den Dunnen
00458569 family PubMed: Alsaleh 2022 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives F;M - Saudi Arabia - - - - - NDD see paper; ..., dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, congenital heart disease, , growth retardation 1 2 Johan den Dunnen
00459419 Fam4PatII1 PubMed: Bayam 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy Cilento - - - - NDD see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
00459420 Fam4PatII3 PubMed: Bayam 2024 sister F yes Italy Cilento - - - - NDD see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
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