All individuals with variants in gene SPTBN4

10 entries on 1 page. Showing entries 1 - 10.
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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) 1 1 Yu Sun
00307974 16DG1625 PubMed: Anazi 2017 familial F - - - - - - - ID see paper; ..., Global developmental delay, Hypotonia, Dysphasia, Recurrent respiratory infections, Blue sclerae, Hyporeflexia, Failure to thrive 1 1 Johan den Dunnen
00373739 iw299 - - M no China - - - - - ? HP:0001276; HP:0001249; HP:0002539; HP:0007033; HP:0007366; HP:0002143; HP:0430023; HP:0032989; HP:0002540; HP:0002317; HP:0000750; HP:0000952; HP:0002463; HP:0100660; HP:0005216; HP:0045010 2 1 Wenjuan Qiu
00375191 patient PubMed: Knierim 2017 4-generation family, 1 affected, unaffected heterozygous carrier first cousin parents/relatives M yes Germany Kurdish - - - - MYOP newborn period general muscular hypotonia, facial weakness, muscle tendon reflexes absent, motor development delayed, never gained head control; 1y-feeding problems due to weak suck required gavage feeding; MRI cranial 4y-normal except mildly enlarged CSF space; serum CK-levels normal; 5y-muscle biopsy fiber-type 1 atrophy; 10y-myopathic facies, highly arched palate, severe distal muscle weakness, generalized muscle atrophy, scoliosis, ankle contractures, severely retarded motor and mental development; not able to stand, sit, eat, or drink without support; no speech; early brainstem evoked potentials could not be elicited, otoacoustic emissions normal; neurography showed combined axonal and demyelinating motor neuropathy 1 1 Johan den Dunnen
00375192 FamAPatIII1 PubMed: Wang 2018 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F - United States - - - - - ? congenital hypotonia; profound weakness; areflexia; no seizures; severe speech delay; global developmental delay; cortical visual impairment; axonal motor neuropathy; MRI brain normal; feeding difficulties, gastrostomy tube; respiratory difficulties 1 3 Johan den Dunnen
00375193 FamAPatIII2 PubMed: Wang 2018 brother M - United States - 2y - - - ? 2y-deceased; congenital hypotonia; profound weakness; areflexia; no seizures; severe speech delay; global developmental delay; cortical visual impairment; MRI brain normal; feeding difficulties, gastrostomy tube; respiratory difficulties 1 1 Johan den Dunnen
00375194 FamBPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents F - United States - - - - - ? congenital hypotonia; profound weakness; areflexia; no seizures; severe speech delay; global developmental delay; cortical visual impairment; auditory neuropathy abnormal auditory brainstem response; axonal motor neuropathy; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties 1 1 Johan den Dunnen
00375195 FamCPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? congenital hypotonia; profound weakness; areflexia; seizures, severe drug resistant epilepsy; severe speech delay; global developmental delay; cortical visual impairment; axonal motor neuropathy; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties 2 1 Johan den Dunnen
00375196 FamDPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? congenital hypotonia; profound weakness; areflexia; seizures, severe drug resistant epilepsy; severe speech delay; global developmental delay; cortical visual impairment; auditory neuropathy abnormal auditory brainstem response; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties 1 1 Johan den Dunnen
00375197 FamEPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? congenital hypotonia; profound weakness; areflexia; seizures, severe drug resistant epilepsy; severe speech delay; global developmental delay; cortical visual impairment; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties 2 1 Johan den Dunnen
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