All individuals with variants in gene PPFIBP1

21 entries on 1 page. Showing entries 1 - 21.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00271474 - - - - - Saudi Arabia Arab - - - - ADHD - 1 1 Nada Al Tassan
00415060 Pat1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., moderate intellectual disability, delayed speech, normal motor development; 4y-focal impaired awareness seizures; 18y-MRI normal; microcephaly; small for gestational age; no congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415061 Pat2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (4th degree consanguineous) F yes Syria - 6y - - - NDD see paper; ..., 3y-died, profound developmental delay, no speech, unable to sit; 2y-focal, generalized tonic clonic seizures; 5y-MRI paucity of the white matter, ventriculomegaly, hypoplastic corpus callosum, Blakes's pouch cyst; intracranial calcifications; spastic tetraplegia, nystagmus; microcephaly; short stature, low weight; no congenital heart defect; bilateral papillary pallor, no eye contact 1 1 Johan den Dunnen
00415062 Pat3-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 7m-epileptic spasms, focal, tonic clonic, tonic seizures; MRI periventricular leukomalacia, metopic synostosis; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; poor fixation 1 3 Johan den Dunnen
00415063 Pat3-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 2m-epileptic spasms, Lennox-Gastaut syndrome; 2y-MRI moderate hyperintensity of periventricular white matter, mild ventriculomegaly; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415064 Pat3-3 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 1d-epileptic spasms, focal, multifocal seizures; 3d-MRI ventriculomegaly, abnormal signal intensity of the white matter, bilateral temporal and left occipital pachygyria; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415065 Pat4 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 5m-epileptic spasms, focal, generalized tonic, status epilepticus seizures; MRI-5m ventriculomegaly, paucity of the white matter, bilateral parietal and occipital pachygyria; intracranial calcifications; spastic diplegia, hyperreflexia; microcephaly; small for gestational age, short stature; congenital heart defect; haemorrhagic retinitis, chronic retinal detachment, right eye exotropia w/ slow pupillary reaction 1 1 Johan den Dunnen
00415066 Pat5-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents (2nd degree consanguineous) F yes Egypt - 8y - - - NDD see paper; ..., 8y-died, profound developmental delay, no speech, unable to sit; 2m-focal, myoclonic seizures; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, short stature, low weight; no congenital heart defect 1 2 Johan den Dunnen
00415067 Pat5-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 sister F yes Egypt - 4y - - - NDD see paper; ..., 4y-died, profound developmental delay, no speech, unable to sit; 1m-focal, myoclonic, tonic seizures; CT ventriculomegaly; intracranial calcifications; hypertonia of the limbs, dystonia; microcephaly; short stature; no congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415068 Pat6-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., profound developmental delay, no speech, 6y-sat independently; 4m-generalized tonic clonic, myoclonic seizures; MRI ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; hypertonia of the limbs; microcephaly; short stature, low weight; no congenital heart defect; optic atrophy, followed light 1 2 Johan den Dunnen
00415069 Pat6-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes Egypt - - - - - NDD see paper; ..., profound developmental delay, no speech, no head support; 2m-generalized tonic clonic, myoclonic seizures, excessive smacking movements; MRI asymmetrical ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; intracranial calcifications; spasticity, rigidity, dystonic movement; microcephaly; short stature, low weight; congenital heart defect; optic atrophy, couldn't follow light 1 1 Johan den Dunnen
00415070 Pat7 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - NDD see paper; ..., severe developmental delay, no speech, motor delay but can stand and walk; 4m-epileptic spasms, focal with apnoea, myoclonic seizures; 4m-MRI normal; 1y6m-MRI thin corpus callosum, periventricular dysmyelination, possibly reduction of the white matter; hypotonia; microcephaly; normal growth; no congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415071 Pat8 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents F yes Iran - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 6m-generalized tonic clonic seizures; MRI bilateral parietal pachygyria, periventricular heterotopia, ventriculomegaly, hyperintensity and paucity of the white matter; hypotonia, nystagmus; no microcephaly but low OFC; small for gestational age; congenital heart defect; no ophthalmologic features but poor fixation 1 2 Johan den Dunnen
00415072 Pat9 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 3y9m - - - NDD see paper; ..., 3y9m-died, severe developmental delay, no speech, can sit but not walk; 2m-epileptic spasms and gaze; MI abnormal; spastic tetraplegia, no sphincter control; microcephaly; small for gestational age; no congenital heart defect; blindness 1 1 Johan den Dunnen
00415073 Pat10 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., severe developmental delay, no speech yet, motor delay; 7d-focal myoclonic seizures, epileptic spasms; MRI abnormal myelination of the periventricular white matter and at corona radiata and centrum semiovale, hypoplastic corpus callosum, mild ventriculomegaly; hypotonia, nystagmus; microcephaly; no congenital heart defect; right ptosis, left iris coloboma, diffuse chorioretinal degeneration 1 2 Johan den Dunnen
00415074 Pat11 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., severe developmental delay, no speech yet, no head support; 14d-focal, myoclonic seizures; MRI cortical atrophy, deep Sylvian fissures, mild ventriculomegaly, prominent basal ganglia, hypoplastic corpus callosum, retrocerebellar and bitemporal arachnoid cysts; intracranial calcifications; hypotonia, dystonia, brisk reflexes, nystagmus; microcephaly; small for gestational age; congenital heart defect; optic atrophy 1 1 Johan den Dunnen
00415075 Pat12 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 5-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents F yes Syria - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 6m-focal, generalized seizures; 5y-MRI ventriculomegaly, leukoencephalopathy, paucity of the white matter, suspected periventricular microcalcifications, frontal polymicrogyria, temporoparietal thickening of the cortex; hypotonia, dyskinesia, stereotypic movements; microcephaly; short stature, low weight; abnormalities of VEPs 1 2 Johan den Dunnen
00415076 Fam13 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 fetus - yes - - - - - - NDD see paper; ..., age 25GW, developmental age estimated around 22GW; X-ray intracranial calcifications babygram; microcephaly; intra-uterine growth retardation 1 1 Johan den Dunnen
00415077 Pat14 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
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