Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Babinski sign, Abnormal pyra... |
ORPHA:320391 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
Gemignani Syndrome |
|
Hypoplasia of penis, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Delayed puberty, Ab... |
ORPHA:2074 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename... |
ORPHA:139474 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... |
OMIM:136300 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Athetosis, Tetraparesi... |
OMIM:619310 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of th... |
ORPHA:776 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Macroorchidism, Open mouth |
OMIM:300143 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Mandibular prognathia, Congenital macroorchidism, Mitral valve prol... |
OMIM:300624 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary ... |
OMIM:212840 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Megalencephaly |
|
Macroorchidism, Atrial septal defect, Long penis |
ORPHA:2477 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Thick lower lip vermilion |
OMIM:300238 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... |
ORPHA:324410 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Fragile X Syndrome |
|
Macroorchidism, Sinusitis, Mandibular prognathia, Mitral valve prolapse |
ORPHA:908 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... |
OMIM:613724 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Decreased serum insulin-like growth factor 1, Premature ovarian... |
ORPHA:79239 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth... |
ORPHA:289494 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Crypt... |
OMIM:300957 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Everted lower lip vermilion |
ORPHA:85286 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Spastic diplegia, Primary a... |
OMIM:233400 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, Hig... |
OMIM:618874 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... |
OMIM:300055 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Bab... |
OMIM:607694 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru... |
ORPHA:98764 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Tremor, Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Gait dis... |
ORPHA:100 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypergonadotr... |
ORPHA:251347 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Aplasia/Hypoplasi... |
ORPHA:1192 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, D... |
ORPHA:330050 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micro... |
OMIM:309520 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Tremor, Cryptorchidism, Gait ataxia, Abdominal obesity, Hypogonadism, Delayed pubert... |
OMIM:300354 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High palate, Mandibular prognathia, Polycystic ovaries |
ORPHA:284180 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Tremor, Hyperkinetic movements... |
ORPHA:457240 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Hypothyroidism, Gait d... |
ORPHA:412057 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia |
ORPHA:98773 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... |
OMIM:614381 |
Lead Poisoning |
|
Somatic sensory dysfunction, Decreased female libido, Small for gestational age, Abnormality of t... |
ORPHA:330015 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Impaired distal proprioception,... |
ORPHA:447896 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus, Diabetes insipidus |
ORPHA:97229 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis... |
OMIM:300623 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... |
OMIM:157640 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Azo... |
ORPHA:10 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Polyembryoma |
|
Macroorchidism, Abnormal peritoneum morphology, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Obesity, Prim... |
OMIM:619737 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... |
ORPHA:91351 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... |
ORPHA:243 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis |
ORPHA:3055 |
Trisomy 20P |
|
Hypospadias, Micrognathia, Abnormality of the dentition, Cryptorchidism, Downturned corners of mo... |
ORPHA:261318 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... |
OMIM:253250 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palate |
OMIM:269920 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... |
OMIM:618652 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Tremor, Cryptorchidism, Spasticity, Micropenis, Decreased testicul... |
OMIM:300978 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Hypogonadism, Lethargy, Decreased serum testosterone concentration, Failure to th... |
OMIM:201100 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... |
ORPHA:240094 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Br... |
ORPHA:521406 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... |
ORPHA:1227 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Microretrognathia |
ORPHA:89844 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Abnormal p... |
ORPHA:453533 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Jaundice, Macroorchidism,... |
ORPHA:90790 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... |
OMIM:620327 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Cer... |
OMIM:616113 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia... |
OMIM:614813 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Macroglossia, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypo... |
ORPHA:90674 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... |
OMIM:603903 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... |
OMIM:615157 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Ataxia, Dystonia, Tremor, Inability to walk, Slurred spee... |
OMIM:208900 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Confusion |
ORPHA:36913 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b... |
ORPHA:163649 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Loss of ambulation... |
OMIM:607426 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Poor coordination, Abnormality of the ... |
OMIM:209900 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Trisomy X |
|
Tremor, Secondary amenorrhea |
ORPHA:3375 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Cryptorchidism, Hypospadias |
OMIM:101805 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, D... |
OMIM:617675 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Hypogonadism, Type II diabetes mellitus, Cholelithiasis |
ORPHA:79095 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, I... |
ORPHA:96263 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Abnormality of the testis size, Micrognathia,... |
ORPHA:261534 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atr... |
OMIM:601186 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia |
OMIM:617836 |
Carney Complex |
|
Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden... |
ORPHA:1359 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... |
ORPHA:465508 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G... |
ORPHA:93 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Gapo Syndrome |
|
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia |
ORPHA:2067 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, H... |
OMIM:617435 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory... |
OMIM:302800 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Thick vermilion b... |
OMIM:300280 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hyperthyroidism, Tremor, Primary amenorrhea, Dysmetria, Progressive ... |
ORPHA:502423 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Macroglos... |
OMIM:617022 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Eclabion, Thin upper lip vermilion, Cleft soft palate, Precocious puberty,... |
OMIM:619950 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... |
OMIM:208920 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, C... |
OMIM:618476 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicu... |
ORPHA:85293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Ataxia, Bilateral cryptorchidism, Cryptorchidism, Tremor, Gait ataxia, Central hypot... |
OMIM:300998 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Azoospermia, Hypogonadism, Infertilit... |
ORPHA:96264 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia, Micropenis |
OMIM:602361 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Precocious puberty, I... |
ORPHA:845 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia |
OMIM:300894 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Lesch-Nyhan Syndrome |
|
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity... |
OMIM:300322 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Hypospadias, Ataxia, Tremor, Cryptorchidism, Failure to thrive, Intent... |
OMIM:614052 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Impotence, Positiv... |
OMIM:105210 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp... |
OMIM:617053 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... |
OMIM:612714 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Cryptorchidism, Hypertonia |
OMIM:608093 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ... |
OMIM:616505 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Premature ovarian insufficiency, Ataxia, Hypergonad... |
OMIM:212065 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... |
ORPHA:228360 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Perineal hypospadia... |
ORPHA:66634 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ... |
ORPHA:2780 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Cerebellar atrophy, Akinesia, Truncal ataxia |
OMIM:618249 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Cerebellar cortical atrophy |
ORPHA:247234 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat... |
ORPHA:400 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Gait imbalance, Dystonia, Fe... |
ORPHA:2828 |
Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Micropenis, Failure to thrive, Decreased body mass index |
ORPHA:370079 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Hydroc... |
ORPHA:79330 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Olivopontocerebel... |
OMIM:146500 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... |
ORPHA:744 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... |
ORPHA:542310 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Hypospadias, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:601808 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... |
ORPHA:96097 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Tremor, Cryptorchidism, Gait disturbance, Difficulty walking, Male... |
ORPHA:90321 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Vestibular areflexia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... |
OMIM:212140 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the dentition, Cariou... |
ORPHA:363444 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Gait disturbance, Failure... |
ORPHA:2754 |
Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... |
ORPHA:3097 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Micrognathia, Increased circulating ... |
ORPHA:99330 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Gingival ov... |
OMIM:239850 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Bradykinesia, Gait ... |
OMIM:137440 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Cerebellar hypoplasia, Akinesia |
OMIM:225790 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno... |
OMIM:608013 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Dystonia, Tremor, Unsteady gait, Weight loss, Abnormality of the sc... |
ORPHA:354 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence |
OMIM:268800 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Large for gestational age, Tremor, Hydrocele testis, Choreoathetosis, Spasticity |
OMIM:614080 |
Aspartylglucosaminuria |
|
Hepatomegaly, Thick lower lip vermilion, Vacuolated lymphocytes, Hypoplastic frontal sinuses, Wid... |
OMIM:208400 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial sep... |
ORPHA:2728 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Angelman Syndrome |
|
Broad-based gait, Precocious puberty in females, Ataxia, Tremor, Inability to walk, Obesity, Myoc... |
ORPHA:72 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... |
OMIM:601005 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Cleft palate, Micropenis, Uni... |
OMIM:616897 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Desmosterolosis |
|
Splenomegaly, Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Dandy-Walker malformation, Abnormal fallopian tube morphology |
ORPHA:722 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... |
ORPHA:48818 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Tip-toe gait, Dystonia |
OMIM:617557 |
Fetal Akinesia Deformation Sequence |
|
Dandy-Walker malformation, Akinesia |
ORPHA:994 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... |
OMIM:617988 |
Manganese Poisoning |
|
Gait disturbance, Akinesia |
ORPHA:306682 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth... |
ORPHA:2905 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Increased mitochondrial number, Dysmetria |
OMIM:615578 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Intrahepatic cholestasis, Di... |
OMIM:614921 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Falls, Gait imbalance, Akinesia |
ORPHA:240071 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age |
OMIM:227650 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... |
ORPHA:33364 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, T... |
ORPHA:58 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Confusion |
ORPHA:79444 |
Oslam Syndrome |
|
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... |
OMIM:606002 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Confusion, Reduced bone mineral density, Hyperostosis frontalis i... |
ORPHA:79443 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality... |
ORPHA:3063 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Myoclonus, Dystonia,... |
ORPHA:1934 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macroglossia, Wid... |
OMIM:618143 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... |
ORPHA:355 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... |
ORPHA:228123 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Thymic hormone decrea... |
OMIM:216400 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
ORPHA:42 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia |
ORPHA:35687 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Fal... |
ORPHA:683 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis, Dandy-Walker malfor... |
ORPHA:3310 |
Sclerosteosis 1 |
|
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubul... |
OMIM:269500 |
Cockayne Syndrome B |
|
Ataxia, Small for gestational age, Cerebellar calcifications, Tremor, Cryptorchidism, Severe fail... |
OMIM:133540 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... |
OMIM:230000 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Broad phil... |
ORPHA:2463 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Hyperthyroidism, Ataxia, Diabetes mellitus, Tremor, Rigidity,... |
ORPHA:254892 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Postencephalitic Parkinsonism |
|
Akinesia |
ORPHA:97349 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Macroglossia, Cardiomegaly |
OMIM:232300 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Cardiomegaly |
OMIM:613320 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... |
OMIM:608836 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... |
ORPHA:1517 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:308552 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Narrow mouth, Cleft palate,... |
OMIM:245600 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:447753 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Abn... |
ORPHA:3385 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia |
OMIM:612301 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly, Abnormality of ... |
ORPHA:581 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Bohring-Opitz Syndrome |
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Micrognathia, Cardiomegaly, Cleft lip, Cleft palate, Abnormal cardiac septum morphology, Cholelit... |
ORPHA:97297 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancrea... |
ORPHA:116 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Gingival overgrowth, Wide mouth, Macroglo... |
OMIM:252500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ... |
ORPHA:228308 |
Bosma Arhinia Microphthalmia Syndrome |
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Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip... |
OMIM:603457 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Hereditary Late-Onset Parkinson Disease |
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Shuffling gait, Akinesia |
ORPHA:411602 |
Gabriele-De Vries Syndrome |
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Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
ORPHA:506358 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Premature loss of primary teeth, Cardiomegaly, Micrognath... |
ORPHA:3472 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms |
OMIM:244400 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99413 |
Turner Syndrome |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:881 |
Mosaic Monosomy X |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99228 |
Monosomy X |
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Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99226 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Dpagt1-Cdg |
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Ataxia, Akinesia, Inability to walk, Abnormal cerebellum morphology, Cerebellar hypoplasia |
ORPHA:86309 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... |
ORPHA:667 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Irregular m... |
OMIM:256040 |
Supranuclear Palsy, Progressive, 2 |
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Falls, Gait imbalance, Akinesia |
OMIM:609454 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Tremor, Wide penis, Chiari type I malforma... |
ORPHA:3455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Cerebellar vermis hypoplasia, Ataxia, Hypospadias, Small for gestational age, Dystonia, Tremor, D... |
OMIM:220111 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A... |
ORPHA:2785 |
Arthrogryposis Multiplex Congenita 5 |
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Akinesia |
OMIM:618947 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
Parkinson Disease 20, Early-Onset |
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Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Microdontia, Atrial septa... |
ORPHA:904 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism |
OMIM:163950 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Leukocytosis, Allodynia |
ORPHA:51890 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Abetalipoproteinemia |
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Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Hepatic... |
ORPHA:14 |
Supranuclear Palsy, Progressive, 1 |
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Falls, Gait imbalance, Akinesia |
OMIM:601104 |
Aicardi-Goutières Syndrome |
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Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Cystinosis, Nephropathic |
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Male infertility, Diabetes mellitus, Failure to thrive in infancy, Weight loss, Primary hypothyro... |
OMIM:219800 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... |
OMIM:182250 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:365 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Splenop... |
OMIM:269150 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Cystic Fibrosis |
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Male infertility, Failure to thrive |
OMIM:219700 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca... |
ORPHA:51608 |