Phenotypes for disease #00038

47 entries on 1 page. Showing entries 1 - 47.
Legend  

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000003234 - Familial, autosomal recessive - - - - - failure to thrive, dysphagia, recurrent vomiting, apnoea, developmental regression - Robert McFarland 00004537
0000003235 - Familial, autosomal recessive - - - - - - - Robert McFarland 00004538
0000003236 - Familial, autosomal recessive - - - - - - - Robert McFarland 00004539
0000052027 - Familial, autosomal recessive - - - - - - - Tonino Ercolino 00072357
0000052028 - Familial, autosomal recessive - - - - - Epilepsy, psychomotor retardation, and tetraspasticity. - Jean-Pierre Bayley 00072358
0000052030 - Familial, autosomal recessive - - - - - Leukodystrophy - Tonino Ercolino 00072360
0000052031 - Familial, autosomal recessive - - - - - - - Tonino Ercolino 00072361
0000052765 - Unknown - - - - - death in infancy – respiratory infection and severe hypoglycemia - Jean-Pierre Bayley 00073073
0000052788 - Unknown - - - - - - - Herma Renkema 00073096
0000052789 - Unknown - - - - - no basal ganglia involvement - Herma Renkema 00073097
0000052791 - Unknown - - - - - - - Herma Renkema 00073099
0000060377 - Familial, autosomal recessive - - - - - Leigh syndrome, COX IV deficiency (OMIM:256000) - Daniel Trujillano 00080808
0000060552 - Familial, autosomal recessive - - - - - Leigh syndrome (OMIM:256000) - Daniel Trujillano 00080983
0000066703 - Familial, autosomal recessive - - - - - Leigh's disease - Sudha Kohli 00087078
0000139677 Leigh syndrome Unknown - - - - - ? - Mariella Simon 00174853
0000139678 Leigh syndrome Unknown - - - - - ? - Mariella Simon 00174854
0000139679 atypical Leigh syndrome Unknown - - - - - ? - Mariella Simon 00174855
0000153329 - - - - 4y - - Hypotonia, ataxia, ophthalmoplegia,nystagmus - Inn-Chi Lee 00205135
0000153330 - - - - 3y - - Hypotonia, ataxia, myoclonic jerks, extrapyramidal movements - Inn-Chi Lee 00205137
0000153331 - - - - - 2y - Hypotonia, ataxia, dystonia, Cerebellum, brainstem, and basal ganglia in MRI - Inn-Chi Lee 00205138
0000153332 - - - - 1y9m - - atypical - Inn-Chi Lee 00205139
0000153333 - - - - - - - hypotonia, ataxia, apnea - Inn-Chi Lee 00205140
0000153334 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205141
0000153335 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205142
0000153336 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205143
0000153337 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205144
0000153338 - - - - 2y - - atypical / Hypotonia, microcephaly, Leucodystrophy in MRI - Inn-Chi Lee 00205146
0000153339 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205147
0000153340 - - - - - - - Hypotonia, ataxia, nystagmus - Inn-Chi Lee 00205148
0000153341 - - - - - - - abnormal MRI in basal ganglia - Inn-Chi Lee 00205149
0000153342 - - - - - - - Down syndrome, cardiovascular malformations, vertebral anomalies, hypotonia, muscle weakness, swallowing difficulties - Inn-Chi Lee 00205151
0000153343 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205152
0000153344 - Familial, autosomal recessive - - - - - - - Carl Fratter 00205153
0000153345 - - - - 6y - - - - Inn-Chi Lee 00205156
0000153346 - - - - - - - atypical - Inn-Chi Lee 00205145
0000153347 - - - - - - - atypical - Inn-Chi Lee 00205154
0000153417 - Familial, autosomal recessive - - - 00y01m15d? - Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128) - Sze Chern Lim 00205226
0000153419 - Familial, autosomal recessive - - - 00y04m - Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), increased blood and CSF lactate levels (HP:0003128) - Sze Chern Lim 00204778
0000154805 - Familial, autosomal recessive - - - 00y03m - Elevated serum and CSF lactate levels (HP:0003128), elevated CSF and serum pyruvate (HP:0003542) levels - Sze Chern Lim 00207012
0000154807 - Familial, autosomal recessive - - - 00y06m - Elevated plasma and CSF lactate levels (HP:0003128), profound mental retardation (HP:0002187), seizures (HP:0001250) - Sze Chern Lim 00207013
0000154809 - Familial, autosomal recessive - - - 00y04m - seizures (HP:0001250), delayed motor milestones (HP:0001270), increased CSF lactate (HP:0002490) - Sze Chern Lim 00207014
0000155191 - Familial, autosomal recessive - - - 00y04m - Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250) - Sze Chern Lim 00207418
0000155193 - Familial, autosomal recessive - - - 00y09m - seizures (HP:0001250), developmental delay, hypotonia, failure to thrive (HP:0001508), increased blood lactate (HP:0002151) - Sze Chern Lim 00207419
0000155196 - Familial, autosomal recessive - - - 00y06m - Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment - Sze Chern Lim 00207420
0000155198 - Familial, autosomal recessive - - - 00y04m - Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine - Sze Chern Lim 00207421
0000155200 - Familial, autosomal recessive 00y04m - - - - blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial MRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties. - Sze Chern Lim 00207422
0000172718 Leigh syndrome - - 18m - - - failure to thrive,psychomotor regression,seizures and vomiting,increased lactate - Wenjuan Qiu 00228779
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