All individuals with variants in gene RAB18

14 entries on 1 page. Showing entries 1 - 14.
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00065049 - PubMed: Gillespie 2014, Journal: Gillespie 2014 4-generation family, 1 affected, no family history M yes - - - - - - CCTRCT nuclear cataract; bilateral microphthalmia, convergent squint, low-frequency multiplanar nystagmus, R scalloped pupil, roving eye movements, pupils difficult to dilate, no recordable VEP response; mild microcephaly and LD 1 1 Johan den Dunnen
00362816 Pat1.1 PubMed: Bem 2011 2-generation family, 2 affected, first cousin parents M yes Pakistan - 5y - - - WARBM 5y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 8w-smiled,, 1y-sitting with support, never pulled to stand or crawled; severe axial hypotonia; not walking; 2y-significant lower limb spasticity; no speech; 9m-generalised tonic clonic seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; micropenis,cryptorchidism 1 2 Johan den Dunnen
00362817 Pat1.2 PubMed: Bem 2011 sister F yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 8w-smiled, 1y-sit with support; severe axial hypotonia; not walking; increased lower limb tone with brisk reflexes, crossed adductors and tight tendon achilles few voluntary lower limb movements, upper limbs normal tone and reflexes; speech babbling, no words; no seizures; MRI brain bilateral frontal polymicrogyria, corpus callosum thin but completely formed, no other structural abnormalities; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal) 1 1 Johan den Dunnen
00362818 Pat2.1 PubMed: Bem 2011 2-generation family, 1 affected, first cousin parents F yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 6w-smiled, 7m-rolled, 10m-sitting with support, never pulled to stand or crawled; severe axial hypotonia; not walking; 1-2y-progressive lower limb spasticity resulting in contractures of knees and ankles, little voluntary lower limb movements, areflexic lower limbs, uUpper limbs developed spasiticity later with elbow and finger contractures; no speech; 6y-grand mal seizures; MRI brain 14m-enlarged ventricles with general reduction in surrounding white matter, thin corpus callosum, mega cisterna magna, otherwise structurally normal brain; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism 1 1 Johan den Dunnen
00362819 Pat3.1 PubMed: Bem 2011 2-generation family, 4 affected, first cousin parents F yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 8w-smiled, hypotonic, 11m-sit with support, never pulled to stand or crawled, reacts to sound; severe axial hypotonia; not walking; profound mental retardation with spastic quadriplegia and contractures; no speech; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism 1 4 Johan den Dunnen
00362820 Pat3.2 PubMed: Bem 2011 brother M yes Pakistan - 8y - - - WARBM 8y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 6w-smiled, 1-5y-rolled from side to back, hypotonic , 9m-sit with support; severe axial hypotonia; not walking; 1-2y-lower limb spasticity resulting in contractures of knees and ankles with feet held in equinovarus position, little voluntary lower limb movement, very brisk lower limb reflexes, upper limbs floppy with normal reflexes, finger contractures and muscle wasting on hands; no speech; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; normal genitalia 1 1 Johan den Dunnen
00362821 Pat3.3 PubMed: Bem 2011 sister F yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 6w-smiled, 5m-rolled to one side, 10m-sitting with support; severe axial hypotonia; not walking; increased lower limb tone with brisk lower limb reflexes and crossed adductor reflex; 9m-speech babbling, no words; no seizures; MRI brain normal; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); no hypogonadism 1 1 Johan den Dunnen
00362822 Pat3.4 PubMed: Bem 2011 - M yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; 6w-smiled, mild head lag, not yet sitting, able to hold toy; severe axial hypotonia; not walking; persistent primitive reflexes (Moro and grasp), brisk lower limb reflexes, upper limb reflexes normal; speech babbling, no words; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); normal genitalia 1 1 Johan den Dunnen
00362823 Pat4.1 PubMed: Bem 2011 2-generation family, 3 affected, first cousin parents F yes Pakistan - 9y8m - - - WARBM 9y8m-deceased; postnatal growth retardation; postnatal microcephaly; 5m-smiling cooing, complete head lag when pulled to sitting, no head control; severe axial hypotonia; not walking; 1y-progressive lower limb spasticity, 8y-upper limb spasticity, 9y-profound mental retardation, wheelchair bound with spastic quadriplegia, contractures with flexed wrists and fisted hands; no seizures; MRI brain 4w-unmyelinated white matter, normal for age, corpus callosum normal, polymicrogyria right perisylvian region; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism 1 3 Johan den Dunnen
00362824 Pat4.2/3 PubMed: Bem 2011 - F yes Pakistan - - - - - WARBM postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 8w-smiling; 9m-hypotonic, sat with support, head lag, brief palmar grasp, never crawled or pulled to stand; severe axial hypotonia; not walking; 1y-lower limb spasticit, brisk lower limb reflexes; no speech; no seizures; MRI brain 2y-bilateral frontal polymicrogyria, corpus callosum thin especially posteriorly; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); no hypogonadism 1 1 Johan den Dunnen
00362825 Pat5.1 PubMed: Bem 2011 - F yes Turkey - 10y - - - WARBM 10y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay; severe axial hypotonia; not walking; 6y-severe spastic quadriplegia with contractures; no speech; generalised tonic clonic; MRI brain abnormal anterior gyration, posterior corpus callosum hypoplasia, cerebellar hypoplasia; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism 1 1 Johan den Dunnen
00362826 Pat6.1 PubMed: Bem 2011 2-generation family, 2 affected F no United States white - - - - WARBM postnatal growth retardation; postnatal microcephaly; profound developmental delay; severe axial hypotonia; not walking; 17m-bilateral cortical thumbs, bilateral crossed adductors, ankle clonus, upper motor neuron dysfunction, and marked visual inattention, 8y-severe spastic quadriplegia with distal limb contractures; no speech; 5y-myoclonic seizures which appeared intractable to multiple anticonvulsants (20–25 episodes per day); MRI brain 2y-bilateral frontal polymicrogyria extending back to the perisylvian region, thickened frontal cortex (measuring 10 mm), enlarged and irregular lateral ventricles with lobulated ventricular walls suggesting heterotopic gray matter, a thin corpus callosum, and a normal brainstem and cerebellum; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; fused hypoplastic labia minora 2 2 Johan den Dunnen
00362827 Pat6.2 PubMed: Bem 2011 brother M no United States white - - - - WARBM postnatal growth retardation; postnatal microcephaly; profound developmental delay, 4m-truncal hypotonia with poor head control and fisting of his hands, no further developmental milestones achieved; severe axial hypotonia; not walking; 27m-tone was mildly increased in his arms, moderately severe spasticity developed in legs, with normal reflexes and no clonus, 37m-difficulty of arousal, no spontaneous movement or purposeful activity, hypoactive reflexes, and extensor plantar responses bilaterally; 37m-nerve conduction studies markedly abnormal due to severe loss of neurons, suggesting axonal sensorimotor peripheral neuropathy; 37m-frequent daily myoclonic jerks resistant to medication; MRI brain 11y-uneven brain surface with microgyri with microsulci visible frontally, cortex intermediate in thickness (8–10 mm) frontal lobes, with better gyral pattern posteriorly, corpus callosum was hypoplastic, especially posteriorly, with mildly enlarged lateral ventricles, especially in the frontal horns, brainstem was normal, with a small cerebellar vermis, and mildly enlarged cisterna magna; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP’s despite early cataract surgery; micropenis, small retractile testes 2 1 Johan den Dunnen
00362881 K52 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... 1 1 Johan den Dunnen
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