Phenotypes for disease #05922 (WARBM (Warburg Micro syndrome (WARBM)))

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0000258186 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 4y - - - Johan den Dunnen 00362816
0000258187 Warburg Micro syndrome WARBM3 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) Familial, autosomal recessive 21m - - - Johan den Dunnen 00362817
0000258188 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 10y - - - Johan den Dunnen 00362818
0000258189 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive - - - - Johan den Dunnen 00362819
0000258190 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 7y6m - - - Johan den Dunnen 00362820
0000258191 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 21m - - - Johan den Dunnen 00362821
0000258192 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive <12m - - - Johan den Dunnen 00362822
0000258193 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 9y5m - - - Johan den Dunnen 00362823
0000258194 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 3y - - - Johan den Dunnen 00362824
0000258195 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 6y - - - Johan den Dunnen 00362825
0000258196 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 23y - - - Johan den Dunnen 00362826
0000258197 Warburg Micro syndrome WARBM3 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 Familial, autosomal recessive 21y - - - Johan den Dunnen 00362827
0000258200 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362830
0000258201 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362831
0000258202 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362832
0000258203 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362833
0000258204 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362834
0000258205 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362835
0000258206 Martsolf syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362836
0000258207 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362837
0000258208 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362838
0000258209 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362839
0000258210 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362840
0000258211 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362841
0000258212 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362842
0000258213 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362843
0000258214 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362844
0000258215 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362845
0000258216 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362846
0000258217 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362847
0000258218 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362848
0000258219 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362849
0000258220 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362850
0000258221 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362851
0000258222 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362852
0000258223 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362853
0000258224 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362854
0000258225 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362855
0000258226 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362856
0000258227 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362857
0000258228 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362858
0000258229 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362859
0000258230 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362860
0000258231 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362861
0000258232 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362862
0000258233 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362863
0000258234 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362864
0000258235 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362865
0000258236 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362866
0000258237 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362867
0000258238 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362868
0000258239 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362869
0000258240 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362870
0000258241 Warburg micro syndrome WARMB1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362871
0000258242 Martsolf syndrome Martsolf syndrome see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362872
0000258243 Martsolf syndrome Martsolf syndrome see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362873
0000258244 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362874
0000258245 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362875
0000258246 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362876
0000258247 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362877
0000258248 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362878
0000258249 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362879
0000258250 Warburg micro syndrome WARMB2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362880
0000258251 Warburg micro syndrome WARMB3 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00362881
0000258531 Warburg Micro syndrome WARBM2 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 Familial, autosomal recessive 00y21m - - - Johan den Dunnen 00363165
0000258532 Micro syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363166
0000258533 Micro syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363167
0000258534 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363168
0000258535 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363169
0000258536 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363170
0000258537 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363171
0000258538 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363172
0000258539 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363173
0000258540 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363174
0000258541 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363175
0000258542 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363176
0000258543 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363177
0000258544 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive - - - - Johan den Dunnen 00363178
0000258545 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363179
0000258546 Warburg Micro Syndrome WARBM1 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, Familial, autosomal recessive 18m - - - Johan den Dunnen 00363180
0000258547 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive 4y - - - Johan den Dunnen 00363181
0000258548 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive 7y - - - Johan den Dunnen 00363182
0000258549 Warburg Micro Syndrome WARBM1 prenatal diagnosis; bilateral cataracts; flat forehead, prominent nasal bridge Familial, autosomal recessive - - - - Johan den Dunnen 00363183
0000258550 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive 3y - - - Johan den Dunnen 00363184
0000258551 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive 5y7m - - - Johan den Dunnen 00363185
0000258552 Warburg Micro Syndrome WARBM1 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 Familial, autosomal recessive 1y - - - Johan den Dunnen 00363186
0000258553 Warburg Micro Syndrome WARBM1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00363187
0000308354 - Warburg Micro syndrome 1 [MIM 600118] 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 Familial, autosomal recessive 8y - - - LOVD 00416844
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