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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Adenine Nucleotide Translocator Deficiency
adult-onset ataxia and polyneuropathy
Alopecia, Hypogonadism, Extrapyramidal Disorder
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Borjeson-Forssman-Lehmann syndrome
Boucher-Neuhauser syndrome
Cantalamessa Baldini Ambrosi Syndrome
carbamoyl phosphate synthetase I deficiency disease
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Chang Davidson Carlson Syndrome
Childhood Myocerebrohepatopathy Spectrum
chronic progressive external ophthalmoplegia +
Chudley-Rozdilsky Syndrome
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
congenital fibrosis of the extraocular muscles +
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
cytochrome-c oxidase deficiency disease +
De Sanctis-Cacchione syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
distal arthrogryposis type 5
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
ethylmalonic encephalopathy
exophthalmic ophthalmoplegia
External Ophthalmoplegia and Myopia
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
Familial Static Ophthalmoplegia
Hamano Tsukamoto Syndrome
Hypermetabolism due to Defect in Mitochondria
Hypogonadism and Testicular Atrophy
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism +
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
hypotonia-cystinuria syndrome
Ichthyosis and Male Hypogonadism
internuclear ophthalmoplegia
Isolated Mineralocorticoid Deficiency
Johnson Neuroectodermal Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Miles-Carpenter syndrome +
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
mitochondrial DNA depletion syndrome 11
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
Moebius Axonal Neuropathy Hypogonadism
Motor Neuron Disease with Dementia and Ophthalmoplegia
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
Noninsulin-Dependent Diabetes Mellitus with Deafness
Ocular Myopathy with Curare Sensitivity
Ophthalmoplegia Totalis with Ptosis and Miosis
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Ophthalmoplegia, Familial Total, with Iris Transillumination
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Parkinson's Disease, Mitochondrial
Progressive External Ophthalmoplegia with Hypogonadism
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive supranuclear palsy +
proximal myopathy and ophthalmoplegia
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Schimke X-Linked Mental Retardation Syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar Ataxia with Epilepsy
Succinate-Coa Ligase Deficiency +
syndromic X-linked intellectual disability Cabezas type
Treft Sanborn Carey Syndrome
Vasquez Hurst Sotos Syndrome
very long chain acyl-CoA dehydrogenase deficiency
Weinstein Kliman Scully Syndrome
Woodhouse-Sakati syndrome
X-linked mental retardation-hypotonic facies syndrome-1
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