Phenotypes for disease #04505 (CAGSSS (cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)), OMIM:616007)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000128886 bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), central adrenal insufficiency, growth hormone deficiency, no hypoglycemic episodes, congenital type II esophageal achalasia, short stature, no hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, chronic sensorimotor distal axonal polyneuropathy; 13y-moderate bilateral sensorineural hearing loss - CAGSSS with additional type II esophageal achalasia and adrenal insufficiency Familial, autosomal recessive 20y08m - - - - Barbara Vona 00163754
0000128887 see paper; ..., 1m-bilateral nystagmus (HP:0000639), 17m-cataract (HP:0000518), 5y-progressive corneal opacification (HP:0007759), adrenal insufficiency, growth hormone deficiency, hypoglycemic episodes, 2y-bilateral sensorineural stable hearing, 32y-type II esophageal achalasia, disproportionate short stature, 2y-hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, mild neurodevelopment delay, no intellectual disability, 9y6m-peripheral neuropathy - CAGSSS Familial, autosomal recessive 08y - - - - Johan den Dunnen 00163757
0000224127 bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, no spine abnormality, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, reduced bone density, no Leigh syndrome, no West syndrome, no intellectual disability, no peripheral neuropathy - CAGSSS Familial, autosomal recessive 35y - - - - Johan den Dunnen 00181201
0000224128 bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no congenital type II esophageal achalasia, short stature, no hip dislocation, no scoliosis, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, no Leigh syndrome, no West syndrome, no neurodevelopment delay, no intellectual disability, no peripheral neuropathy - - Familial, autosomal recessive 27y - - - - Johan den Dunnen 00296727
0000224129 see paper; ..., 5m-bilateral nystagmus (HP:0000639), 5m-cataract (HP:0000518), 5y-corneal opacification (HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 21m-moderate bilateral sensorineural hearing loss, no type II esophageal achalasia, short stature, congenital hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, early childhood peripheral neuropathy - CAGSSS Familial, autosomal recessive 06y - - - - Johan den Dunnen 00296728
0000224130 see paper; ..., 3m-bilateral nystagmus (HP:0000639), 3m-cataract (HP:0000518), 16y5m-corneal opacification (HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, 18m-hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, 8m-peripheral neuropathy - CAGSSS Familial, autosomal recessive 16y06m - - - - Johan den Dunnen 00296729
0000224131 see paper; ..., bilateral nystagmus (HP:0000639), 3y-cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 8y-bilateral sensorineural hearing loss, no type II esophageal achalasia, disproportionate short stature (-6SD), congenital hip dislocation, abnormal vertebral bodies, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, peripheral neuropathy, early childhood pain insensitivity - CAGSSS Familial, autosomal recessive 08y - - - - Johan den Dunnen 00296730
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