Phenotypes for disease #07171 (MSUD (maple syrup urine disease))

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0000351601 maple syrup urine disease MSUD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466219
0000351602 maple syrup urine disease MSUD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466220
0000351603 maple syrup urine disease MSUD2 see paper; ..., intermittent episodes of ketoacidosis Familial, autosomal recessive 11y - 02y - Johan den Dunnen 00466221
0000351604 maple syrup urine disease MSUD1A see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466222
0000351605 maple syrup urine disease MSUD1A see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466223
0000351606 maple syrup urine disease MSUD1A see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466224
0000351607 maple syrup urine disease MSUD1A see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466225
0000351608 maple syrup urine disease MSUD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00466226
0000351609 maple syrup urine disease - see paper; ... Unknown - - - - Johan den Dunnen 00466227
0000351614 maple syrup urine disease MSUD1A severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. At the age of 3 months, hyperammonemia and dilated cardiomyopathy was detected during routine screening. He had history of frequent hospital readmissions for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 2y - 4d - Johan den Dunnen 00466231
0000351615 maple syrup urine disease MSUD1A severe; classic MSUD with rapid deterioration to coma and NICU admission and ventilation for 55 days. He had history of frequent hospital readmission for metabolic decompensation. Familial, autosomal recessive 10.3y - 7d - Johan den Dunnen 00466232
0000351616 maple syrup urine disease MSUD1A severe; classic MSUD with rapid deterioration and NICU admission. He required no ventilation. He was readmitted to hospital only two times during the first year with metabolic decompensation. Familial, autosomal recessive 8.3y - 10d - Johan den Dunnen 00466233
0000351617 maple syrup urine disease MSUD1A severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after first crisis with development of seizures. She had repeated hospital readmissions with metabolic decompensation from diagnosis till now. Familial, autosomal recessive 2.2y - 7d - Johan den Dunnen 00466234
0000351618 maple syrup urine disease MSUD1A classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had two hospital readmissions for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 4.6y - 5d - Johan den Dunnen 00466235
0000351619 maple syrup urine disease MSUD1A classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission for severe metabolic crisis at the age 3.0 years which required PICU admission. Familial, autosomal recessive 5.7y - 10d - Johan den Dunnen 00466236
0000351620 maple syrup urine disease MSUD1A classic MSUD with rapid deterioration at age of 3 days with poor suckling, vomiting, lethargy, irritability. He was diagnosed by Ms/Ms at 30 days of age. He had multiple hospital readmissions for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 9.3y - 3d - Johan den Dunnen 00466237
0000351621 maple syrup urine disease MSUD1A moderate; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had no history of hospital readmission for metabolic decompensation. Familial, autosomal recessive 4.1y - 7d - Johan den Dunnen 00466238
0000351622 maple syrup urine disease MSUD1A moderate; asymptomatic . She was diagnosed by newborn screening program due to family history of previous sib death with MSUD and she had no hospital admission. Positive family history of an elder sister with classic MSUD, moderate phenotype with rapid deterioration, NICU admission and ventilation in the first week. At the age of 3 month she developed convulsions. She was diagnosed at age of 6 month and started treatment. Then after 3 months she died with fever. Familial, autosomal recessive 8.3y - - - Johan den Dunnen 00466239
0000351623 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had one hospital readmission with metabolic crisis from diagnosis till now. Familial, autosomal recessive 2.5y - 7d - Johan den Dunnen 00466240
0000351624 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after the first metabolic crisis with development of seizures. She had no hospital readmission for crisis from diagnosis till now. Familial, autosomal recessive 6.1y - 10d - Johan den Dunnen 00466241
0000351625 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission from diagnosis with protein deficiency till now. Familial, autosomal recessive 1.8y - 3d - Johan den Dunnen 00466242
0000351626 maple syrup urine disease MSUD1B mild; intermediate form of the disease. He presented with delayed milestones of development at the age of 3.5 months associated with attacks of convulsions. Familial, autosomal recessive 7.0y - 105d - Johan den Dunnen 00466243
0000351627 maple syrup urine disease MSUD1B moderate; classic MSUD, with early coma at the age of 4 days followed by rapid deterioration that required ventilation for one month. She was, then, diagnosed by Ms/Ms and received treatment for MSUD. She was readmitted one time at 5 years of age due to metabolic crisis. Familial, autosomal recessive 6.5y - 4d - Johan den Dunnen 00466244
0000351628 maple syrup urine disease MSUD1B severe; classic MSUD presented with poor suckling, vomiting, lethargy, convulsions, irritability, and abnormal level of consciousness. He had frequent hospital readmissions. Familial, autosomal recessive 8.3y - 1d - Johan den Dunnen 00466245
0000351629 maple syrup urine disease MSUD1B moderate; classic MSUD with rapid deterioration, hyperammonemia and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. Familial, autosomal recessive 2.0y - 4d - Johan den Dunnen 00466246
0000351630 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration. He was admitted to NICU for 10 days and was ventilated. Familial, autosomal recessive 5.5y - 5d - Johan den Dunnen 00466247
0000351631 maple syrup urine disease MSUD1B severe; classic MSUD, developed poor suckling and convulsion on the second day after birth. He was admitted to NICU and ventilated for 30 days. He was then discharged undiagnosed. He was diagnosed by Ms/Ms at 5 months. He had multiple hospital readmissions for metabolic crisis. Familial, autosomal recessive 1.5y - 2d - Johan den Dunnen 00466248
0000351632 maple syrup urine disease MSUD1B moderate; classic MSUD. He was normal till the age of 7 days. Then he developed poor suckling, lethargy, convulsions. EMS was done at the age of 60 days and was diagnostic for MSUD. The patient lost follow up after one year of age. Familial, autosomal recessive 2.0y - 7d - Johan den Dunnen 00466249
0000351633 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration and admission to NICU for 30 days. EMS was done at the age of 14 days, and was diagnostic for MSUD. No history of hospital readmission for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 4.0y - 7d - Johan den Dunnen 00466250
0000351634 maple syrup urine disease MSUD1B severe; classic MSUD with rapid deterioration and admission to NICU with ventilation for 30 days. Then he was discharged undiagnosed. EMS was done at the age of 3 months and was diagnostic for MSUD. He had history of frequent hospital readmission for metabolic crisis. Familial, autosomal recessive 5.2y - 4d - Johan den Dunnen 00466251
0000351635 maple syrup urine disease MSUD1B classic MSUD with rapid deterioration and admission to NICU with ventilation. The EMS was done at age of one month and was diagnostic for MSUD. At the age of 6 years, he was admitted to PICU with convulsions and coma. He had history of frequent hospital readmission for metabolic crisis. Familial, autosomal recessive 7.1y - 7d - Johan den Dunnen 00466252
0000351636 maple syrup urine disease MSUD2 severe; classic MSUD who was admitted to NICU on the seventh day for 2.5 months and was ventilated. At the age of 4 months, she was admitted to PICU, put on ventilator and was diagnosed as a patient of MSUD. She died at age of 6 months. Familial, autosomal recessive 0.5y - 7d - Johan den Dunnen 00466253
0000351637 maple syrup urine disease MSUD2 severe; classic MSUD, she was normal till the age of 3 days then she developed poor suckling, excessive crying, irritability, convulsions. At the age of 9 months, Ms/Ms was diagnostic for MSUD. She had frequent hospital readmissions. Familial, autosomal recessive 4.2y - 3d - Johan den Dunnen 00466254
0000351638 maple syrup urine disease MSUD2 severe; classic MSUD with deterioration to coma and a lengthy admission to NICU and ventilation. He was diagnosed as MSUD at 45 days. He had multiple hospital readmissions for metabolic crisis. Familial, autosomal recessive 7.1y - 7d - Johan den Dunnen 00466255
0000351639 maple syrup urine disease MSUD2 moderate; asymptomatic She was diagnosed on second day by NBS program due to previous sib diagnosed with MSUD (P25) with no history of hospital admissions. At the age of 3 year, she was admitted to hospital for 1 week due to metabolic decompensation. Familial, autosomal recessive 6.1y - - - Johan den Dunnen 00466256
0000351640 maple syrup urine disease MSUD2 severe; classic MSUD with deterioration and NICU admission and ventilation. He was diagnosed at the age of 2 month and started treatment. No available follow up after the age of 4 months. Familial, autosomal recessive 1.3y - 10d - Johan den Dunnen 00466257
0000351641 maple syrup urine disease MSUD2 moderate; classic MSUD with deterioration to coma and admission to NICU with ventilation. He had convulsion sine two weeks of age. Familial, autosomal recessive 3.5y - 3d - Johan den Dunnen 00466258
0000351642 maple syrup urine disease MSUD2 classic MSUD with rapid deterioration to coma and lengthy NICU admission with ventilation for 60 days. No history of hospital readmission for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 7.5y - 4d - Johan den Dunnen 00466259
0000351643 maple syrup urine disease MSUD2 classic MSUD with deterioration to coma and admission to NICU with ventilation. No history of hospital readmission for metabolic decompensation from diagnosis till now. Familial, autosomal recessive 5.5y - 3d - Johan den Dunnen 00466260
0000351644 maple syrup urine disease MSUD2 classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. Familial, autosomal recessive 1.3y - 4d - Johan den Dunnen 00466261
0000351645 maple syrup urine disease MSUD2 mild; asymptomatic classic MSUD that was diagnosed since birth by NBS program due to family history of previous sib death. She had no history of hospital readmission with metabolic crisis. Previous sib deaths due to late diagnosis of MSUD were at the age of 1.5 and 2 months, respectively. Familial, autosomal recessive 11.5y - - - Johan den Dunnen 00466262
0000351646 maple syrup urine disease MSUD2 severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had three hospital readmissions with metabolic crisis from diagnosis till now. Familial, autosomal recessive 5.8y - 5d - Johan den Dunnen 00466263
0000351647 maple syrup urine disease MSUD1A acute encephalopathy and intractable seizures at presentation, later follow up psychomotor retardation, axial hypotonia, brain atrophy Familial, autosomal recessive 5y5m 20d - - Johan den Dunnen 00466264
0000351648 maple syrup urine disease MSUD1A chronic encephalopathy, spasticity, moderate developmental delay Familial, autosomal recessive 3y 6m - - Johan den Dunnen 00466265
0000351649 maple syrup urine disease MSUD1A 1y-deceased; hypoactivity and acute encephalopathy at presentation, later follow up severe developmental delay, and brain atrophy Familial, autosomal recessive 1y 7d - - Johan den Dunnen 00466266
0000351650 maple syrup urine disease MSUD1A mild developmental delay, infrequent partial seizures Familial, autosomal recessive 5y6m 1y6m - - Johan den Dunnen 00466267
0000351651 maple syrup urine disease MSUD2 moderate developmental delay, hypotonia, mild brain atrophy Familial, autosomal recessive 5y5m 3y - - Johan den Dunnen 00466268
0000351652 maple syrup urine disease MSUD2 poor feeding and convulsions at presentation, later follow up moderate developmental delay; MSUD deceased sib Familial, autosomal recessive 8y 3d - - Johan den Dunnen 00466269
0000351654 maple syrup urine disease MSUD1B - Familial, autosomal recessive - - - - Johan den Dunnen 00466286
0000351655 maple syrup urine disease MSUD1B - Familial, autosomal recessive - - - - Johan den Dunnen 00466287
0000351656 maple syrup urine disease MSUD2 - Familial, autosomal recessive - - - - Johan den Dunnen 00466288
0000351658 maple syrup urine disease MSUD1A classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466290
0000351659 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466291
0000351660 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466292
0000351661 maple syrup urine disease MSUD2 classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466293
0000351662 maple syrup urine disease MSUD2 classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466294
0000351663 maple syrup urine disease MSUD1A classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466295
0000351664 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466296
0000351665 maple syrup urine disease MSUD1B variant MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466297
0000351666 maple syrup urine disease MSUD1A variant MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466298
0000351667 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466299
0000351668 maple syrup urine disease MSUD1A classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466300
0000351669 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466301
0000351670 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466302
0000351671 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466303
0000351672 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466304
0000351673 maple syrup urine disease MSUD1A classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466305
0000351674 maple syrup urine disease MSUD2 variant MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466306
0000351675 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466307
0000351676 maple syrup urine disease MSUD1B classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466308
0000351677 maple syrup urine disease - severe (intermediate) Unknown - - - - Johan den Dunnen 00466309
0000351678 maple syrup urine disease MSUD1A severe (intermediate) Familial, autosomal recessive - - - - Johan den Dunnen 00466310
0000351679 maple syrup urine disease MSUD1A mild (newborn screening, mild course) Familial, autosomal recessive - - - - Johan den Dunnen 00466311
0000351680 maple syrup urine disease MSUD1A mild (asymptomatic) Familial, autosomal recessive - - - - Johan den Dunnen 00466312
0000351681 maple syrup urine disease MSUD1A severe (intermediate) Familial, autosomal recessive - - - - Johan den Dunnen 00466313
0000351682 maple syrup urine disease MSUD1B mild (newborn screening, mild course) Familial, autosomal recessive - - - - Johan den Dunnen 00466314
0000351683 maple syrup urine disease MSUD1B mild (asymptomatic) Familial, autosomal recessive - - - - Johan den Dunnen 00466315
0000351684 maple syrup urine disease MSUD1B mild (intermittent) Familial, autosomal recessive - - - - Johan den Dunnen 00466316
0000351685 maple syrup urine disease MSUD1B mild (intermittent) Familial, autosomal recessive - - - - Johan den Dunnen 00466317
0000351686 maple syrup urine disease MSUD1B mild (asymptomatic) Familial, autosomal recessive - - - - Johan den Dunnen 00466318
0000351687 maple syrup urine disease MSUD1B mild (intermittent) Familial, autosomal recessive - - - - Johan den Dunnen 00466319
0000351688 maple syrup urine disease MSUD2 classical MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466320
0000351689 maple syrup urine disease MSUD2 mild MSUD Familial, autosomal recessive - - - - Johan den Dunnen 00466321
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