Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... |
OMIM:614436 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo... |
OMIM:604168 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4C |
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Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration, Distal sensory impairment |
OMIM:616155 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
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Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
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Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Premature Ovarian Failure 19 |
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Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Degeneration of a... |
OMIM:604320 |
Mitochondrial Dna Depletion Syndrome 18 |
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Failure to thrive, Axonal degeneration |
OMIM:618811 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
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Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
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Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
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Female infertility |
OMIM:619697 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
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Female infertility |
OMIM:619176 |
Hydatidiform Mole, Recurrent, 3 |
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Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
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Female infertility |
OMIM:618432 |
Hyperprolactinemia |
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Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Female Infertility Due To Oocyte Meiotic Arrest |
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Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... |
ORPHA:88628 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
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Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
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Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
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Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
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Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
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Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
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Female infertility |
OMIM:617712 |
Progesterone Resistance |
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Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
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Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
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Female infertility |
OMIM:620333 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Axonal degeneration |
OMIM:618138 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai... |
ORPHA:478029 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
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Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
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Female infertility, Amenorrhea |
OMIM:620383 |
Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
Angioedema, Hereditary, 1 |
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Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
De Sanctis-Cacchione Syndrome |
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Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreoath... |
OMIM:278800 |
Premature Ovarian Failure 6 |
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Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Premature Ovarian Failure 13 |
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Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Ring Chromosome Y Syndrome |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Premature Ovarian Failure 20 |
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Secondary amenorrhea, Female infertility |
OMIM:619938 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Abnormal cerebellar peduncle ... |
ORPHA:909 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Ciliary Dyskinesia, Primary, 37 |
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Female infertility |
OMIM:617577 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Ovarian Dysgenesis 3 |
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Primary amenorrhea, Female infertility |
OMIM:614324 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Turner Syndrome |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Obesity, Secon... |
ORPHA:881 |
Mosaic Monosomy X |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Obesity, Secon... |
ORPHA:99228 |
Monosomy X |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Obesity, Secon... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Obesity, Secon... |
ORPHA:99413 |