Disease #05922 (WARBM (Warburg Micro syndrome (WARBM)))

Official abbreviation WARBM
Name Warburg Micro syndrome (WARBM)
OMIM ID -
Inheritance -
Individuals reported having this disease 88
Phenotype entries for this disease 88
Associated with 1 gene RAB3GAP1
Associated tissues -
Disease features -
Remarks -
Date created 2021-04-23 15:32:09 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

88 entries on 1 page. Showing entries 1 - 88.
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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 RAB18 RAB18 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) RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 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 RAB18 RAB18 2 1 Johan den Dunnen
00362830 K1 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362831 K2 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362832 K3 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362833 K4 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362834 K5 PubMed: Handley 2013 - - - Morocco - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362835 K6 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362836 K7 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362837 K8 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362838 K9 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362839 K10 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362840 K11 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362841 K12 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362842 K13 PubMed: Handley 2013 - - - Nigeria - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362843 K14 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362844 K15 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362845 K16 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362846 K17 PubMed: Handley 2013 - - - Algeria - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362847 K18 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362848 K19 PubMed: Handley 2013 - - - India - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362849 K20 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362850 K21 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362851 K22 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362852 K23 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362853 K24 PubMed: Handley 2013 - - - Israel - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362854 K25 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362855 K26 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362856 K27 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362857 K28 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362858 K29 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362859 K30 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362860 K31 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362861 K32 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362862 K33 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362863 K34 PubMed: Handley 2013 - - - Canada - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362864 K35 PubMed: Handley 2013 - - - Spain - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362865 K36 PubMed: Handley 2013 - - - Germany - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362866 K37 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362867 K38 PubMed: Handley 2013 - - - Czech Republic - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362868 K39 PubMed: Handley 2013 - - - United States white - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362869 K40 PubMed: Handley 2013 - - - - white;Europe - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00362870 K41 PubMed: Handley 2013 - - - France - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362871 K42 PubMed: Handley 2013 - - - Saudi Arabia;Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 2 1 Johan den Dunnen
00362872 K43 PubMed: Handley 2013 - - - Mexico - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362873 K44 PubMed: Handley 2013 - - - Gambia - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362874 K45 PubMed: Handley 2013 - - - Pakistan - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362875 K46 PubMed: Handley 2013 - - - Israel Arab, Muslim - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362876 K47 PubMed: Handley 2013 - - - Tunisia - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362877 K48 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362878 K49 PubMed: Handley 2013 - - - Turkey - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362879 K50 PubMed: Handley 2013 - - - Saudi Arabia - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362880 K51 PubMed: Handley 2013 - - - Netherlands - - - - - WARBM see paper; ... RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00362881 K52 PubMed: Handley 2013 - - - Egypt - - - - - WARBM see paper; ... RAB18 RAB18 1 1 Johan den Dunnen
00363165 Pat1 PubMed: Borck 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - WARBM see paper; ..., normal length, normal weight at birth; postnatal microcephaly, postnatal growth retardation; hypotonia; 21m-no limb spasticity; severe developmental delay, severe mental retardation; 21m-no speech; 21m-not walking; congenital cataracts; microphthalmia; no optic atrophy; ERG normal, absent visually evoked potentials; large ears; 21m-no kyphoscoliosis; hypoplastic corpus callosum; abnormal gyration; 21m- no seizures RAB3GAP2 RAB3GAP2 1 1 Johan den Dunnen
00363166 patient PubMed: Abdel-Salam 2007 - - - Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363167 patient PubMed: Abdel-Salam 2007 - - yes Egypt - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363168 FamK1 PubMed: Aligianis 2005 - M yes Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363169 FamK2 PubMed: Aligianis 2005 - F yes Pakistan - - - - - WARBM intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain normal; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363170 FamK3 PubMed: Aligianis 2005 - F yes Pakistan - - - - - WARBM intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain bilateral frontal pachygyria; microphthalmia; congenital dense central cataracts; small atonic pupils; blind or light perception only; ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363171 FamK4 PubMed: Aligianis 2005 - F yes Morocco - - - - - WARBM intra-uterine growth retardation; no postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, bilateral frontal polymicrogyria; no microcornea; right microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; no ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; no large anteverted ears; hypogenitalism; umbilical hernia RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363172 FamK5 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363173 FamK9 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363174 FamK10 PubMed: Aligianis 2005 - - yes Pakistan - - - - - WARBM intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, decreased myelination of whlte matter; microcornea; microphthalmia; congenital dense central cataracts; small pupils but react to light; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; micropenis, hypospadius; growth hormone deficiency RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363175 FamK11 PubMed: Aligianis 2005 - - yes Lebanon - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363176 FamK12 PubMed: Aligianis 2005 - - yes Turkey - - - - - WARBM no intra-uterine growth retardation; postnatal growth retardation; birth OFC 50-75th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain delayed myelination, cerebral atrophy particularly frontal, hypoplasia corpus callosum, pachygyria; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; L side ptosis; deep set eyes; no brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363177 FamK13 PubMed: Aligianis 2005 - M no South Africa - - - - - WARBM no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain abnormal corpus callosum; MRI brain hypogenesis corpus callosum, agenesis splenium, decreased myelination whilte matter; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; ptosis; deep set eyes; brachycephaly; no beaked nose/no prominent root nose; no hirsuitism; no low frontal hairline; large anteverted ears; micropenis, bifid scrotum, cryptorchidism; few renal cysts on ultrasound, DMSA normal RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363178 FamK14 PubMed: Aligianis 2005 - M yes Pakistan - - - - - WARBM no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 50th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain cerebral atrophy; microcornea; microphthalmia; congenital dense central cataracts; blind or light perception only; beaked nose/prominent root nose; large anteverted ears; micropenis, cryptorchidism RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363179 FamK15 PubMed: Aligianis 2005 - - no Mexico - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363180 Pat1 PubMed: Morris-Rosendahl 2010 - F yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; bitemporal hollowing, small mouth, retrognathia, high arched palate, low set ears; hypertrichosis, particularly on back; genital hypoplasia: hypoplastic labia maiora; severe developmental delay; severe axial hypotonia and peripheral hypertonia, marked rigidity of the hips and knees; osteopenic aspect skeleton, bilateral coxa valga; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, wide sylvian fissures, delayed myelinisation; no seizures; failure to thrive, feeding difficulties (all liquids are thickened and food has to be blended), widely-spaced nipples, RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363181 Pat2 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; sees only light and dark, despite cataract removal, lenses missing, severe strabismus and nystagmus; wide nasal bridge, large malformed, low set ears; hypertrichosis; micropenis, cryptorchidism; severe mental retardation; muscle hypotonia, spastic quadriplegia, contractures, particularly affecting the knee joint, ; overlapping toes; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, defective myelinisation; no seizures; can only take in liquids and liquidized foods. cardiac ventricle-septal defect, incomplete 4-finger fold RAB3GAP1 RAB3GAP1 1 2 Johan den Dunnen
00363182 Pat3 PubMed: Morris-Rosendahl 2010 sib M yes Turkey - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts, operatively removed at age 5m; glaucoma, bilateral optic atrophy; hypotelorism, low insertion of columella and/or short philtrum, thin lips with tented mouth; no hypertrichosis; hypogonadism, micropenis; severe mental retardation; severe muscle hypotonia, quadriplegic; small hands and feet, brachydactyly of feet; MRI brain bilateral frontal polymicrogyria, copus callosum hypoplasia, cerebellar vermis hypoplasia; no seizures; accessory nipple on right chest, single palmar crease RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363183 Pat4 PubMed: Morris-Rosendahl 2010 - - yes Palestine - - - - - WARBM prenatal diagnosis; bilateral cataracts; flat forehead, prominent nasal bridge RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363184 Pat5 PubMed: Morris-Rosendahl 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Denmark - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; white membrane, no lens; persistently constricted pupils; optic nerve hypoplasia, retinal changes; mild hypertelorism, deep-set eyes; no hypertrichosis; severe mental retardation; initially hypotonic, 15m-global developmental delay, unable to sit, poor head control, few voluntary movements; hyper-extended first toe both feet; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, delayed myelinisation; 2-3m-seizures treated with oxcarbazepin, now seizure-free ; initial failure to thrive RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363185 Pat6 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Guatemala - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts; persistently constricted pupils; wide nasal bridge ; hypertrichosis only on forehead; micropenis, cryptoorchidism; profound mental retardation; unable to sit unsupported, reacts to sound; hallux valgus; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, megacisterna; no seizures; failure to thrive, oral/pharyngeal dysphagia (peg feeding), umbilical hernia RAB3GAP1 RAB3GAP1 1 2 Johan den Dunnen
00363186 Pat7 PubMed: Morris-Rosendahl 2010 sib F - Guatemala - - - - - WARBM microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts with synechiae to the capsule; persistently constricted pupils; no normal lenses; wide nasal bridge, deep philtrum, anteverted nares ; no hypertrichosis; no hypogonadism; profound developmental delay; 10m-no roll, head lag on pull to sit, does not hold objects, coos, reacts to sound; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis; no seizures RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00363187 patient PubMed: Yuksel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - WARBM see paper; ... RAB3GAP1 RAB3GAP1 1 1 Johan den Dunnen
00416844 1 PubMed: Rump 2016 - F - - - - - - - WARBM brain magnetic resonance imaging: thin corpus callosum, mild enlarged ventricles, hypoplasia of vermis and cerebellum; additional clinical featuresbilateral congenital cataracts, microphthalmia, pale optic discs, hypogenitalism, axial hypotonia, hip dislocation, joint contractures, severe intellectual disability RAB3GAP1 RAB3GAP1 1 1 LOVD
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