Phenotypes for disease #00038 (LS (Leigh syndrome (LS)), OMIM:256000)

62 entries on 1 page. Showing entries 1 - 62.
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AscendingPhenotype ID     
Diagnosis/Initial     
Inheritance     
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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, Renu Saxena, Ratna Puri, I.C. Verma 00087078
0000139677 Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Mariella Simon 00174853
0000139678 Leigh syndrome Unknown - - - - - ? - Mariella Simon 00174854
0000139679 atypical Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - 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
0000209179 Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00274234
0000209180 Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00274235
0000209181 Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00274236
0000230648 late-onset Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00303585
0000230650 Leigh syndrome Familial, autosomal recessive 18y LS - 04y - see paper; ... - Johan den Dunnen 00303587
0000230651 Leigh syndrome Familial, autosomal recessive 39y LS - 04y - see paper; ... - Johan den Dunnen 00303588
0000231995 Leigh syndrome Familial, autosomal recessive - ECHS1D - - - see paper; ..., fatal Leigh disease, increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites - Johan den Dunnen 00306151
0000232014 Leigh syndrome Familial, autosomal recessive - - - - - see paper; ... - Mariella Simon 00306170
0000232015 Leigh syndrome Familial, autosomal recessive - ECHS1D - - - see paper; ... - Johan den Dunnen 00306171
0000232016 Leigh syndrome Familial, autosomal recessive - ECHS1D - - - see paper; ... - Johan den Dunnen 00306172
0000326675 Leigh syndrome Familial, autosomal recessive 01y04m COXPD51 - - - see paper; ..., 1y4m-died of respiratory failure; low birth weight 632g (− 4.26SD), height 28cm (− 4.7SD), OFC 23.2 cm (− 2.3SD); mental retardation, optic atrophy, MRI brain abnormal bilateral signals basal ganglia/brainstem; severe bilateral hearing loss - Johan den Dunnen 00436498
0000326854 - Familial, autosomal dominant - - - - - - - Rosalba Carrozzo 00436739
0000351390 Leigh syndrome Familial, autosomal recessive 14m15d - - - failure to thrive see paper; ..., 14m15d-failure to thrive, microcephaly (OFC 41cm, Z-4.7), hypotonia, gross motor skills <4m skill level), fine motor skills 6m level), no expressive language skills attendance to voices, nystagmus, esotropi, no retinal pathology - Johan den Dunnen 00466005
0000351391 Leigh syndrome Familial, autosomal recessive 27y - - - fever unknwn origin see paper; ..., fever unknown origin; sub-acute onset cognitive-motor slowing, lethargy, hyperphagia, difficulty in ambulation, oculomotor alterations (mild convergent strabismus left eye with mild abduction deficit, vertical nystagmus primary position, horizontal nystagmus in bilateral gaze settings, complete deficit ocular pursuit movements vertical plane); MRI-brain intra-axial lesions midbrain, tegmentum, and tectal plate, with extension along medial longitudinal fasciculus, with modest mass effect, linear enhancement, increased perfusion indices; lactic acid peak on spectroscopy - Johan den Dunnen 00466006
0000351392 Leigh syndrome Familial, autosomal recessive - - - - born small for gestational age see paper; ..., born small for gestational age; pregnancy preeclampsia; intensive care nursery for poor feeding for 3w; eat orally, failure to thrive, 11m-gastrostomy tube; global developmental delay without regression, most notably in gross motor skills, 2y-walk; expressive speech, 16m-first babbling, 21m-sign 20–30 word; exercise intolerance; dysmorphic facial features (midfacial hypoplasia, prominent cheeks, micro/retrognathia, epicanthus, down-slanting palpebral fissures, smooth philtrum, thin upper lip; intermittent mild lactatemia - Johan den Dunnen 00466007
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