Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
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 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spast... |
OMIM:611225 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
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 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
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 |
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 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma |
OMIM:616428 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
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 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Scoliosis |
OMIM:213000 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism |
ORPHA:1381 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Galactosialidosis |
|
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology |
ORPHA:351 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy |
OMIM:617018 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Gait distur... |
ORPHA:101075 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Int... |
ORPHA:276435 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Winchester Syndrome |
|
Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized oste... |
OMIM:277950 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Osteomesopyknosis |
|
Low back pain, Infertility |
OMIM:166450 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... |
ORPHA:521406 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations... |
OMIM:615048 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Lower limb spasticity, Spinal... |
OMIM:615290 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma |
OMIM:611638 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Inability to walk, Intrinsic hand mus... |
ORPHA:101077 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Congenital Primary Aphakia |
|
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... |
ORPHA:83461 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Scoliosis, Lens subluxation, Microphakia |
ORPHA:171844 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... |
OMIM:616668 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short stature, Atax... |
OMIM:616756 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrop... |
OMIM:617404 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Catar... |
ORPHA:79237 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... |
OMIM:235200 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeleta... |
OMIM:610687 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive |
OMIM:620007 |
Morquio Syndrome C |
|
Platyspondyly, Corneal opacity |
OMIM:252300 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spastic ataxia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Unsteady gait, Babinski sign, Limb atax... |
ORPHA:3115 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Abnormal intervertebral disk morphology, Cataract, Short neck, Pl... |
ORPHA:85194 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... |
OMIM:253400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Difficulty walking, Scoliosis, Lower limb amyotrophy, Foot dorsi... |
OMIM:617087 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis |
ORPHA:99014 |
Urocanase Deficiency |
|
Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hyperto... |
OMIM:614898 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal amyotrophy, Steppage gait, Hyperto... |
OMIM:609260 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb spasticity, Lower limb muscle weakness, Kyphosis, Babinski sign, Spastic paraplegia, H... |
OMIM:614409 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Sh... |
OMIM:303350 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... |
OMIM:255600 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Short stature, Small for gestational age, Kyphosis, Decreased body weight |
OMIM:618392 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Brady... |
OMIM:300423 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Pill-rolling tremo... |
OMIM:615528 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia |
OMIM:601794 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa... |
OMIM:609285 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Thoracic scoliosis, Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysd... |
OMIM:610185 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Platyspondyly... |
OMIM:230650 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation |
OMIM:614018 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Unsteady gait, Slurred speech... |
ORPHA:93952 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Short stature, Kyphosis, Unsteady gait, Obesity, Scoliosis, Loss of ambulation, Foot dors... |
OMIM:618124 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies,... |
ORPHA:577 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density |
ORPHA:2370 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal amyotrophy, Steppage gait, Limb muscle weakness, F... |
OMIM:618387 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Quadriceps muscle weakness, Elbow fl... |
ORPHA:206546 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Secon... |
ORPHA:3085 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Intrauterine growth retardation |
OMIM:620270 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Small for gestational age, Cataract, Kyphoscoliosis, Developmental cataract, Death... |
OMIM:610756 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... |
ORPHA:496689 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cataract, Cryptorchidism, Neonatal death, Microphthalmia |
OMIM:613730 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Difficulty walki... |
ORPHA:330050 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Hyperlysinuria, Ectopia lentis |
OMIM:238700 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcorne... |
OMIM:612109 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia, Short neck |
OMIM:618951 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Short st... |
ORPHA:464282 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram... |
ORPHA:397946 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc... |
ORPHA:2590 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Scoliosis, Hyperlordosis |
ORPHA:408 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Kyphoscoliosis, Fluctuatin... |
OMIM:610377 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Short neck, Abnormality iris morphology, Microphthalmia, Fai... |
ORPHA:1617 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Scoliosis |
ORPHA:306669 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:280333 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia,... |
OMIM:617435 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Slender build, Hyperlordosis |
ORPHA:352470 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramida... |
ORPHA:48431 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... |
OMIM:605899 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Cataract, Kyphosis, Hypogonadism, Abnormality of the ovary |
ORPHA:1875 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Ataxia |
ORPHA:1532 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of verteb... |
OMIM:616583 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia |
OMIM:615524 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Facial hypotonia, Kyphoscoliosis, Short neck, Tremor, Parkinson... |
OMIM:300055 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn... |
OMIM:600363 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Kyphosis, Inability to walk, Limb myoclonus, Gait ataxia... |
ORPHA:3095 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Camptocormia, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Cho... |
OMIM:606703 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Infertility, Erec... |
ORPHA:465508 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Inability to walk, Osteolysis involving tarsal bones, Metatarsal ost... |
OMIM:166300 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal amyotrophy, Steppage gait, Gait dis... |
OMIM:118300 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Developmental cataract, Microcornea,... |
OMIM:600118 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... |
ORPHA:98805 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... |
OMIM:617013 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign |
OMIM:260540 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss... |
OMIM:607155 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:213200 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Cofs Syndrome |
|
Death in infancy, Cataract, Short neck, Hypogonadism, Microphthalmia |
ORPHA:1466 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Kyphoscolio... |
ORPHA:3077 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract, Lumbar hyperlordosis |
ORPHA:2848 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Kyphoscoliosis, Gait ataxia, Distal amyotrophy, Action tremor |
OMIM:180800 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Microphthalmia |
ORPHA:141333 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Optic nerve hypoplasia, Irregular vertebral endplates, Coronal cleft vertebrae, Scolios... |
OMIM:222765 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Nail-Patella Syndrome |
|
Back pain, Keratoconus, Lumbar hyperlordosis, Cataract, Antecubital pterygium, Microcornea, Scoli... |
OMIM:161200 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Cataract |
ORPHA:85288 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Kyphosis, Flexion contracture, Babinski sign, Sp... |
OMIM:609541 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Scoliosis, Eyelid myoclonus |
OMIM:616421 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity |
ORPHA:2429 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Kyphoscoliosis |
OMIM:300915 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal muscle fibers, Kypho... |
OMIM:248800 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Intrauterine growth retar... |
OMIM:618237 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
Sialidosis Type 2 |
|
Osteoporosis, Kyphosis, Corneal opacity, Ataxia |
ORPHA:87876 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity, Muscular dystrophy, Dystoni... |
ORPHA:459033 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Increased serum serotonin, Elevated circula... |
ORPHA:100083 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:617054 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Ambiguous genitalia... |
ORPHA:893 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle... |
OMIM:255200 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Thoracic scoliosis, Cataract, Microcornea, Lumbar scoliosis, Microphthalmia |
OMIM:616171 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Clonus, Kyphosis, Upper limb hypertonia, Limb dystonia, Failure to thrive |
ORPHA:319199 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli... |
OMIM:181405 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr... |
OMIM:612736 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:62 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Tremor |
OMIM:616269 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapy... |
ORPHA:500180 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Scoliosis |
OMIM:617183 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Growth delay, Gait disturbance, Difficulty walking, Scoliosis |
ORPHA:505652 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat... |
ORPHA:329478 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, G... |
OMIM:615157 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod... |
OMIM:618961 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Cataract, Weight loss |
ORPHA:79238 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea |
OMIM:251750 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Aminoaciduria... |
ORPHA:812 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Dystonia, Short neck, Inability to walk, Kyphosis, Facial diplegia, Diff... |
OMIM:611890 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... |
ORPHA:391417 |
Pierpont Syndrome |
|
Small for gestational age, Short neck, Cryptorchidism, Microcornea, Scoliosis, Microphthalmia |
ORPHA:487825 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... |
ORPHA:53351 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... |
OMIM:619574 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Intestinal Dysmotility Syndrome |
|
Cataract, Failure to thrive, Weight loss |
OMIM:620045 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... |
ORPHA:70594 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Adductor lo... |
OMIM:210000 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... |
OMIM:614831 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Difficulty walking, Dystonia |
OMIM:616684 |
Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Cataract, Short neck, Lens luxation, Hypoplasia of the odontoid p... |
ORPHA:485 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Scoliosis, Slender build, Mildly elevated creatine kinase |
OMIM:161800 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Hemivertebrae, Scoliosis, Neonatal death, Microphthalmia,... |
ORPHA:85284 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, G... |
OMIM:616586 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Pierpont Syndrome |
|
Short neck, Cryptorchidism, Microcornea, Scoliosis, Decreased body weight, Microphthalmia, Microp... |
OMIM:602342 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Scoliosis |
ORPHA:1387 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hy... |
OMIM:222600 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity |
OMIM:619255 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Short stature, Cachexia, Failure to thrive in infancy, Kyphosis, Choreoathetosis, Gait di... |
ORPHA:702 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Waddling gait, Corneal opacity, Osteoporosis, Loss of ambulation |
ORPHA:2788 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis |
OMIM:619470 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Spinal rigidity, Cachexia, Hyperlordosis |
ORPHA:157973 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia |
OMIM:618637 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... |
ORPHA:88644 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Cystinosis |
|
Corneal opacity, Rickets, Hypokalemia, Aminoaciduria, Gait disturbance, Hypophosphatemia, Polydip... |
ORPHA:213 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Cryptorchidism |
OMIM:601349 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:85317 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphol... |
ORPHA:75840 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Erythrokeratodermia Variabilis |
|
Cataract, Abnormal testis morphology, Corneal opacity, Weight loss |
ORPHA:317 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Upper limb muscle weakness, Limb fasciculations, Lower limb muscle wea... |
ORPHA:90117 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Dystonia, Loss of ambulation, Intrauterine growth retardation |
OMIM:615010 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613818 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613723 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity |
OMIM:609308 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Distal amyotrophy... |
OMIM:208920 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unsteady gait, Limb tremor,... |
ORPHA:420492 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Rigid Spine Syndrome |
|
Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Tremor, Inability ... |
OMIM:312080 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Mildly eleva... |
OMIM:160500 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:615156 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... |
OMIM:261600 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, ... |
OMIM:312750 |
Juvenile Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Dysmetria, Abnormal form of the vertebral bodies, Dysphagia, L... |
ORPHA:93399 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral... |
ORPHA:582 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Flexion contracture, Generalized limb muscle atrophy, Leg ... |
ORPHA:137898 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Splenomegaly, Nuclear cataract, Stomatocytosis |
OMIM:608885 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myopathy, Myoc... |
ORPHA:254881 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:618129 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle mu... |
ORPHA:171436 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Distal amyotrophy, St... |
OMIM:616505 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... |
OMIM:152950 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... |
ORPHA:240071 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia, Iris hypopigmentation |
ORPHA:411515 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Hemivertebrae, Micr... |
ORPHA:77298 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia |
OMIM:233910 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis |
OMIM:615761 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Gait ataxia, Scoliosis, Spastic gait |
ORPHA:496790 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic gait |
OMIM:616795 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Microcornea, Hypogonadism, M... |
OMIM:268400 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ectopia lentis... |
ORPHA:649 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior, ... |
OMIM:620023 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:102 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Failure to thrive |
OMIM:274270 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... |
OMIM:619542 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Death in childhood, Micropht... |
OMIM:214150 |
Ck Syndrome |
|
Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Slender build, Kyphoscoliosis |
ORPHA:251383 |
Hurler-Scheie Syndrome |
|
Abnormal vertebral morphology, Corneal opacity, Spinal canal stenosis |
ORPHA:93476 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Dysmetria, Delayed puber... |
OMIM:607694 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, F... |
OMIM:264180 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior... |
OMIM:221900 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Short neck, Platyspondyly, Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:267 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis |
ORPHA:61 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Obesity, Scoliosis |
ORPHA:276630 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Hyperlordosis, Tremor, Hypertonia, Gait disturbance |
ORPHA:1192 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Leukodystrophy, Hypomyelinating, 6 |
|
Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia |
ORPHA:248111 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Scheie Syndrome |
|
Spondylolisthesis, Corneal opacity, Short neck |
OMIM:607016 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... |
ORPHA:227510 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... |
ORPHA:1170 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Corneal opacity, Short neck, Inability to walk, Hypoplasia of the odontoid process... |
ORPHA:239 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... |
ORPHA:97349 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia |
ORPHA:3454 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... |
OMIM:183090 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Cryptorchidism, Obesity, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:619185 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Short stature, Postural tremor, Kyphoscoliosis, Babinski sign, Tetrapleg... |
ORPHA:447760 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid proces... |
OMIM:253010 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty |
ORPHA:2598 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Inability to w... |
ORPHA:3101 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes,... |
OMIM:301900 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract, Kyphoscoliosis |
OMIM:601701 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Tip-toe ... |
ORPHA:37612 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,... |
OMIM:607371 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:617352 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior, ... |
OMIM:271980 |
Familial Dysautonomia |
|
Hyponatremia, Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Osteolysis, Ga... |
ORPHA:1764 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:98933 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Tremor, Truncal obesity, Hyp... |
OMIM:300957 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Gait disturbance, Delayed puberty, Spasti... |
ORPHA:100 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... |
ORPHA:765 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Short stature, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, External genital hypoplasia, Blue ... |
ORPHA:3041 |
Insulin Autoimmune Syndrome |
|
Weight loss, Hyperinsulinemic hypoglycemia |
ORPHA:411593 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Short stature, Small for gestational age, Kyphosis, Congenital contracture, Hyper... |
ORPHA:352490 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdomin... |
OMIM:615980 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Kyphoscoliosis, Hypoplastic labia minora, Developmental cataract, Microc... |
OMIM:614222 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral endplates, Coronal cleft vertebrae, T... |
OMIM:618363 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia |
OMIM:619422 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Dysdiadoc... |
OMIM:617675 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Mucolipidosis Type Iv |
|
Gait disturbance, Corneal opacity, Ataxia |
ORPHA:578 |
Nemaline Myopathy 2 |
|
Spinal rigidity, Hyperlordosis, Scoliosis, Slender build, Mildly elevated creatine kinase |
OMIM:256030 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis |
OMIM:252605 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Short stature, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Arthro... |
OMIM:615834 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Scoliosis, Aggressive behavior |
ORPHA:457260 |
Myasthenic Syndrome, Congenital, 14 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:616228 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Abnormality of bone mineral density |
ORPHA:2741 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Thoracic kyphosis, Myoclonus |
OMIM:619092 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Flexion contracture, Scoliosis, Decreased body weight |
OMIM:278760 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Microphthalmia, Spina bifid... |
OMIM:169550 |
Facioscapulohumeral Dystrophy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:269 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Microphthal... |
OMIM:616395 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Trisomy 13 |
|
Anophthalmia, Cataract, Displacement of the urethral meatus, Kyphosis, Cryptorchidism, Aplasia/Hy... |
ORPHA:3378 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Inability to walk, Spasticity, Choreoathetosis, Dystonia, Joint contracture |
OMIM:617664 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Weight ... |
OMIM:613239 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive |
OMIM:619556 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Severe short stature, Limb joint con... |
ORPHA:93314 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Hyperlordosis, Kyphosis, Cryptorchidism, Microcornea, Scoliosis, Microphth... |
ORPHA:568 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Inability ... |
ORPHA:99956 |
Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait a... |
OMIM:617988 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Gracile Bone Dysplasia |
|
Death in infancy, Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to ... |
OMIM:602361 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Ataxia, Gait disturbance |
OMIM:603472 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Fasciculations |
ORPHA:65684 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... |
OMIM:616817 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht... |
ORPHA:91495 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen... |
ORPHA:1797 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:195 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, ... |
ORPHA:290 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612126 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Short stature, Tremor, Kyphosis, Gait ataxia, Macroglossia, Abdomin... |
OMIM:300354 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Gm1 Gangliosidosis |
|
Ataxia, Corneal opacity, Hyperlordosis, Kyphosis, Unsteady gait, Abnormal form of the vertebral b... |
ORPHA:354 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Corneal opacity, Kyphoscoliosis, Osteoporosis... |
OMIM:259600 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Kyphosis, Scoliosis |
ORPHA:2047 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Myopathy, Centronuclear, 1 |
|
Mildly elevated creatine kinase, Hyperlordosis |
OMIM:160150 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Oli... |
ORPHA:330015 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness |
ORPHA:97229 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:613157 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho... |
ORPHA:466722 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... |
OMIM:211530 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Myopathy, Scoliosis |
OMIM:618234 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... |
ORPHA:2470 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Short stature, Kyphoscoliosis, Spastic paraplegia, Spastic gait |
ORPHA:101003 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Saccharopinuria |
|
Tremor, Short stature, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Myoclonu... |
ORPHA:363400 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Micropenis, Scoliosis, Hyperlordosis |
OMIM:613156 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... |
OMIM:234250 |
Congenital Toxoplasmosis |
|
Microphthalmia, Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Peters anomaly |
OMIM:618652 |
Wilson Disease |
|
Back pain, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, ... |
ORPHA:905 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Microphthalmia, Micropenis, De... |
ORPHA:335 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Short neck, Tremor, Chorea, Clumsiness, Growth delay, Choreoathetosis, Calf muscl... |
OMIM:615673 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... |
ORPHA:178148 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Schaaf-Yang Syndrome |
|
Short stature, Failure to thrive in infancy, Inability to walk, Kyphosis, Flexion contracture, Ob... |
OMIM:615547 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... |
OMIM:313400 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder |
ORPHA:281090 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Facial palsy, Short neck, Inability to walk, Kyphosis, Flexion co... |
OMIM:301041 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykinesia, Titubation, Gait ... |
ORPHA:225147 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, Vaginal fistula |
OMIM:619318 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... |
OMIM:615663 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Micro Syndrome |
|
Hypoplasia of penis, Cataract, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Microcornea, C... |
ORPHA:2510 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Cataract, Ectopia lentis, Microspherophakia, Spinal canal stenosis, Shallow... |
OMIM:277600 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Leukopenia, Neutropenia, Zonular cataract, Thrombocytopenia |
OMIM:616271 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Short stature, Ataxia, Hyperlordosis, Tremor, Inability ... |
OMIM:615356 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Obesity, Scoliosis, Microphthalmia |
ORPHA:3191 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Thoracic kyphosis, Opacification of the corneal epithelium |
OMIM:270200 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr... |
OMIM:614298 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic labia majora, Microc... |
OMIM:614225 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Growth delay, P... |
ORPHA:502423 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Scoliosis |
ORPHA:363717 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Short neck, Hepatosplenomegaly, Stomatocytosis, Zonular c... |
ORPHA:168577 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology |
ORPHA:357058 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Astigmatism, Scoliosis, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... |
OMIM:617796 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... |
ORPHA:2522 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia, Short neck |
OMIM:613885 |
Sjögren-Larsson Syndrome |
|
Short stature, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Choreoathetosis, Abnormality of the calf musculature, Steppage gait, Gait disturbance, Di... |
ORPHA:206594 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Lumbar hyperlordosis, Scoliosis |
OMIM:255310 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Hypogonadism, ... |
ORPHA:85450 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
Kapur-Toriello Syndrome |
|
Cataract, Short neck, Cryptorchidism, Hypoplastic labia majora, Scoliosis, Microphthalmia, Microp... |
OMIM:244300 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys... |
OMIM:614381 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, Hypophosphatemia, ... |
ORPHA:2611 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Fl... |
ORPHA:88628 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Micr... |
ORPHA:3301 |
Seckel Syndrome 2 |
|
Small for gestational age, Microphthalmia, Hypospadias |
OMIM:606744 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... |
OMIM:618060 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph... |
OMIM:300280 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Sutural cataract, Scoliosis |
OMIM:201470 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
Three M Syndrome 1 |
|
Hypospadias, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Sp... |
OMIM:273750 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Epiphyseal stippling, ... |
ORPHA:584 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Opacification of the corneal stroma |
ORPHA:1643 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, G... |
OMIM:617710 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... |
OMIM:607326 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Dysmetria, Skeletal muscle atrophy |
OMIM:615578 |
Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cataract, Cervical kyphosis, Kyphoscoliosis, Short neck, Microcornea, Coron... |
OMIM:255800 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Baraitser-Winter Syndrome 1 |
|
Short neck, Cryptorchidism, Microphthalmia, Micropenis, Failure to thrive, Iris coloboma |
OMIM:243310 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Fused cervical vertebrae, Thoracic kyphosis, Abnormal temper tantrums, Sco... |
ORPHA:530983 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Craniolenticulosutural Dysplasia |
|
Cryptorchidism, Posterior wedging of vertebral bodies, Punctate cataract, Posterior Y-sutural cat... |
OMIM:607812 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance |
ORPHA:457240 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis, Failure to thri... |
ORPHA:370079 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Gait imbalan... |
ORPHA:98794 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Microphthalmia, A... |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck... |
OMIM:242900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:611588 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Short neck, Hypoplastic labia majora, Microphthalmia, Failure to thrive, Iri... |
ORPHA:2328 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tremor, Inability to walk, Flexion contracture, Limb tremor, Facial dipl... |
OMIM:218000 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally ... |
OMIM:620351 |
Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contr... |
OMIM:314580 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly |
OMIM:120200 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity |
ORPHA:86812 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Failure to thrive, Congenital ... |
ORPHA:137675 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:1501 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Weight loss, Ovarian neoplasm, Anemia |
ORPHA:83469 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microphthalmia, Failure to thrive, Microcytic anemia |
OMIM:612379 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Weight loss |
ORPHA:100024 |
Renpenning Syndrome |
|
Decreased testicular size, Cataract, Hypospadias, Cachexia, Iris coloboma |
ORPHA:3242 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve h... |
OMIM:206900 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia |
ORPHA:33355 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Craniosynostosis, Self-injurious behavior, Opacification of the corneal st... |
OMIM:601853 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T3, Increased circulating... |
OMIM:275000 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic... |
ORPHA:90322 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia |
OMIM:617306 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Cachexia, Short neck |
ORPHA:1438 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... |
OMIM:620249 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Hypospadias, Small for gestational age, Kyphoscoliosis, Cataract, Precociou... |
ORPHA:93357 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... |
ORPHA:1159 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, S... |
OMIM:608328 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... |
OMIM:612469 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract, Small for gestational age, Short neck |
OMIM:618804 |
Tyrosinemia Type 2 |
|
Corneal opacity, Ataxia |
ORPHA:28378 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Short neck, Cryptorchidism, Microph... |
ORPHA:284160 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:353 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Short stature, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, ... |
OMIM:108145 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:253700 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:435387 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Patchy osteosclerosis, Spinal canal stenosis, Astigmatism, Hyperphosphatemia, Hy... |
ORPHA:2323 |
Oculoskeletodental Syndrome |
|
Developmental cataract, Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hyperactivity, Cataract, Corneal opacity, Ataxia, Aggressive behavior,... |
ORPHA:581 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Death in infancy, Poorly ossified vertebrae, Cryptorchidism |
OMIM:619135 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Short neck, Obesity, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... |
OMIM:600462 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Fanconi Anemia, Complementation Group S |
|
Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to thrive, Anemia |
OMIM:617883 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Corneal opacity, Ataxia |
OMIM:272200 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia |
ORPHA:683 |
Congenital Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Dysmetria, Developmental cataract |
ORPHA:93400 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis |
ORPHA:1064 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Astigmatism, Hypotriglycerid... |
OMIM:618885 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ata... |
OMIM:606002 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Scoliosis, Abnormally large globe |
OMIM:615249 |
Nephroblastoma |
|
Aniridia, Weight loss |
ORPHA:654 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Babinski sign, Spast... |
ORPHA:171629 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Corneal opacity, Developmental cataract |
OMIM:616603 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Short stature, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis,... |
ORPHA:85293 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalm... |
ORPHA:370959 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... |
OMIM:615084 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Microcornea... |
ORPHA:217346 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... |
OMIM:227650 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:353327 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Retinitis Pigmentosa 86 |
|
Cortical cataract |
OMIM:618613 |
3Mc Syndrome |
|
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Abnormal anterior chamber morpholo... |
ORPHA:293843 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Temtamy Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation |
OMIM:218340 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cataract, Cryptorchidism... |
OMIM:212720 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Inability to walk, Unste... |
OMIM:618443 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... |
ORPHA:2789 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Short neck, Fused ... |
OMIM:609053 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Scoliosis, Mild sh... |
OMIM:130060 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Osteopenia, Corneal opacity, Kyphoscoliosis |
OMIM:163200 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Short neck, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:157900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cataract, Spinal rigidity, Peters anomaly, Buphthalmos, Scoliosis, Persistent p... |
OMIM:613150 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss |
ORPHA:54251 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Marden-Walker Syndrome |
|
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Microphthalmia, Micropenis |
OMIM:248700 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp... |
ORPHA:899 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Growth delay, Scoliosis, Intrauterine growth retardation |
ORPHA:238750 |
Angelman Syndrome |
|
Keratoconus, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Ton... |
ORPHA:72 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Kyphoscoliosis, Bilateral microphthalmos, Abnormality of the verteb... |
OMIM:610758 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis |
OMIM:114300 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Scoliosis, Decreased corneal thickness, Sp... |
OMIM:229200 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Abnormality of the vertebral column, Hyperlordosis |
ORPHA:52430 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, ... |
OMIM:251450 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Craniosynostosis, Astigmatis... |
OMIM:301056 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Osteoporosis, Megalocornea |
ORPHA:2409 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Hip flexor weakness, Incoordination, Dysto... |
ORPHA:845 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Hurler Syndrome |
|
Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Cranial hyperostosis, ... |
OMIM:607014 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorch... |
OMIM:603467 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morphology, Weig... |
ORPHA:324964 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo... |
OMIM:600901 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Scoliosis, Recurren... |
OMIM:223900 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Tremor, Kyphosis, Unsteady gait, Myopathy, Dystonia, Spasticity, Failure... |
OMIM:615512 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short stature, Short neck |
OMIM:616455 |
Satoyoshi Syndrome |
|
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... |
OMIM:613327 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... |
OMIM:615273 |
15Q24 Microdeletion Syndrome |
|
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Postnatal growth retar... |
ORPHA:94065 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Short stature, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, Abnor... |
ORPHA:364028 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Keratitis, Osteolysis, Gait disturbance, Attention deficit hyperactivi... |
ORPHA:464 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Anophthalmia, Unilateral cryptorchidism, Microphthalmia, Failure to thrive |
OMIM:206920 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:404440 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Opacification of the corneal stroma |
OMIM:601356 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Kyphosis, Microcornea, Scoliosis, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
Frontorhiny |
|
Lumbar hyperlordosis, Cataract, Scoliosis, Microphthalmia, Hypopituitarism, Iris coloboma |
ORPHA:391474 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contrac... |
OMIM:618493 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:612921 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myopathy, Rhabdomyolysis, Ataxia |
ORPHA:713 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Short stature, Kyphosis, Macroglossia, Scoliosis |
ORPHA:79107 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters... |
OMIM:243605 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... |
ORPHA:58 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxation, Scoli... |
ORPHA:85167 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... |
ORPHA:352447 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Abnormal vertebral morphology |
ORPHA:261272 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Thorac... |
OMIM:617114 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Abnormally ossified vertebrae, Cataract, Cachexia, Hyperlordosis, Short neck, K... |
ORPHA:800 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Kyphoscoliosis, Short neck, Hemivertebrae, Punctate vertebral calcifications, Scoliosis... |
OMIM:302960 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia |
OMIM:602501 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy, Scoliosis, Short neck |
OMIM:616801 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, El... |
OMIM:608836 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Blue irides, Progressive gait ataxia, Scoliosis, Paroxys... |
OMIM:105830 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight |
OMIM:615222 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Flexion contr... |
ORPHA:99027 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo... |
OMIM:227645 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short neck |
OMIM:614583 |
Knobloch Syndrome 1 |
|
Band keratopathy, Phthisis bulbi, Developmental cataract, Iris transillumination defect, Macular ... |
OMIM:267750 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Scoliosis, Cryptorchidism |
OMIM:618494 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia |
ORPHA:298 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619797 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis |
ORPHA:1545 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Short neck, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:614230 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... |
ORPHA:93352 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... |
ORPHA:174 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Kyphoscoliosis, Microcor... |
ORPHA:35173 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Scoliosis, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Cryptorchidism, Hemivertebrae, Abnormal form of the vertebra... |
ORPHA:3412 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Metrorrhagia, Precocious... |
ORPHA:370348 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Phthisis bulbi, Platyspondyly, Scoliosis, Bicon... |
OMIM:259770 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Cryptorchidism, Scoliosis, Microphthalmia, Failure to thrive, Iris coloboma |
ORPHA:250989 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Cataract, Small for gestational age, Microcornea, Keratoconjunctivitis sicca, H... |
OMIM:601675 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Macroorchidism, Failure to thrive, Iris coloboma |
OMIM:618874 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Corneal opacity, Kyphosis, Astigmatism, Gait disturbance, Atte... |
ORPHA:464311 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hyp... |
ORPHA:447753 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Fucosidosis |
|
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Cohen Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Neutropenia, Micropht... |
ORPHA:193 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Bilateral microphthalmos, Prominent protruding coccyx, Abnormal form of the... |
ORPHA:2839 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Short neck, Hyperlipidemia, Platys... |
ORPHA:1830 |
Al-Gazali Syndrome |
|
Osteopenia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H... |
ORPHA:42775 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Lethargy, ... |
ORPHA:254892 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Cryptorchidism, Corneal scarring, Developmental cataract, Platyspondyly, Scoliosis, Mic... |
OMIM:309000 |
Hurler-Scheie Syndrome |
|
Kyphosis, Corneal opacity, Scoliosis |
OMIM:607015 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... |
ORPHA:2232 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Mild short stature, Failure to thrive, Foot dorsiflexor weakness |
OMIM:169400 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... |
ORPHA:2616 |
Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive, Anemia, Short neck |
ORPHA:1842 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Short neck, Inability to walk, Osteoporosis, Scoliosis, Abnormal circulating lip... |
ORPHA:488632 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Elevated circulating creatinine concentration |
OMIM:614376 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Cataract, Corneal opacity, Ataxia, Craniosynostosis, Short neck, Cranial hyperostosis... |
ORPHA:309282 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Posterior embryotoxon |
ORPHA:912 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Tremor, Prominent prot... |
OMIM:300966 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Hyperlordosis |
ORPHA:369840 |
Jacobsen Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular hypoplasia, La... |
OMIM:147791 |
Solitary Fibrous Tumor |
|
Low back pain, Reduced C-peptide level, Weight loss, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:300986 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... |
ORPHA:411634 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... |
OMIM:223800 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Craniosynostosis, Hyperopic astigmatism, Opacification of th... |
OMIM:252600 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Short neck, Astigmatism, Scoliosis, Microphthalmia |
OMIM:618571 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract |
OMIM:614105 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe |
ORPHA:3409 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Ocular anterior segment dysgenesis, Bilateral microphthalmos, Short neck |
ORPHA:369891 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Short neck |
OMIM:608104 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormality of the cervical spine, Hyperactivity, Corneal opacity, Kyphosis, Astigmatism, Gait di... |
ORPHA:464306 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph... |
ORPHA:2311 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Short neck, Buphthalmo... |
ORPHA:495875 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia |
OMIM:614813 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Refractory Celiac Disease |
|
Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:398063 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Microphthalmia |
OMIM:612530 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:310200 |
De Barsy Syndrome |
|
Osteopenia, Cataract, Corneal opacity, Kyphoscoliosis, Athetosis, Progressive cerebellar ataxia |
ORPHA:2962 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Platyspondyly, Death in infancy |
ORPHA:163966 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Scoliosis, Anemia |
OMIM:617244 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Short neck, Asplenia, Cryptorchidism, Hemivertebrae, Abnorm... |
ORPHA:99776 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... |
ORPHA:507 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Six lumbar vertebrae, Microphthalmia, Failure to thrive |
ORPHA:65286 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Monosomy 18P |
|
Microphthalmia, Kyphoscoliosis, Short neck |
ORPHA:1598 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab... |
ORPHA:93360 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Cataract, Anemia |
ORPHA:2930 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... |
OMIM:216550 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... |
ORPHA:1427 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck |
ORPHA:2983 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Decreased fertility |
OMIM:234050 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Uterine l... |
ORPHA:1439 |
Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Hyperlordosis, Cryptorchidism, Scoliosis, Microphthalmia, Ir... |
OMIM:234100 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... |
ORPHA:628 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Kyphosis, Spastic tetraplegia, Intrauterine growth retardation, Limb hypertonia |
OMIM:619909 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Corneal scarring, Death in adolescence, Scoliosis, Fai... |
OMIM:610965 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Tremor, Lethargy, Failure to thrive |
OMIM:201100 |
Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Posterior... |
OMIM:619234 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
Schwannomatosis, Vestibular |
|
Juvenile posterior subcapsular lenticular opacities, Cortical cataract |
OMIM:101000 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Short stature, Kyphosis, Hemivertebrae, Abnorm... |
ORPHA:2916 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leyd... |
ORPHA:361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation |
ORPHA:52503 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level, Increased circulating ACTH level, Weight loss |
ORPHA:97289 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis |
ORPHA:3068 |
X-Linked Agammaglobulinemia |
|
Weight loss, Anemia, Conjunctivitis, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:47 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Difficu... |
OMIM:618476 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Larsen Syndrome |
|
Vertebral fusion, Corneal opacity, Cervical kyphosis, Multiple carpal ossification centers, Scoli... |
OMIM:150250 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Failure to... |
ORPHA:500055 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Decreased response to growth hormone stimulation test, Hyperlordosis, Hypoplasia of the... |
OMIM:616007 |
Ataxia-Telangiectasia |
|
Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Prog... |
OMIM:208900 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Loss of ambulation, Right hemiplegia, Decrea... |
OMIM:607426 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentrat... |
ORPHA:42 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis |
OMIM:618870 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Small scrotum, Cryptorchidism |
ORPHA:2728 |
O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... |
ORPHA:99965 |
Joubert Syndrome |
|
Ataxia, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis, Oculomotor ap... |
ORPHA:475 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Vert... |
ORPHA:29073 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Hyperlordosis, Overweight, Kyphosis, Spondylolysis,... |
ORPHA:763 |
Mend Syndrome |
|
Sacral dimple, Cataract, Kyphosis, Cryptorchidism, Microphthalmia, Failure to thrive |
ORPHA:401973 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Hypogonadism |
OMIM:610651 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Beaking of vertebral bodies, Congenital kyphoscoliosis, Corneal opacity, Sagittal cra... |
ORPHA:536471 |
Marfan Syndrome |
|
Cataract, Kyphoscoliosis, Ectopia lentis, Microspherophakia, Increased axial length of the globe,... |
OMIM:154700 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... |
OMIM:241410 |
Cockayne Syndrome B |
|
Small for gestational age, Kyphosis, Splenomegaly, Cryptorchidism, Developmental cataract, Hypopl... |
OMIM:133540 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Scoliosis, Shawl scrotum, Microphthalmia, Micropenis, Decreased bo... |
OMIM:300895 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... |
OMIM:618291 |
Sickle Cell Anemia |
|
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
Christianson Syndrome |
|
Death in early adulthood, Cachexia |
ORPHA:85278 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Weight loss, Ovarian cyst, Abnormality of the verte... |
ORPHA:400 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma |
OMIM:215250 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Small for gestational age, Developmental cataract, Microphthalmia, Anemia |
OMIM:127000 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Elevated circulating calcitonin... |
OMIM:162300 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia |
ORPHA:71273 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Cataract, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Ov... |
OMIM:109400 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Platyspondyly |
OMIM:300863 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Cataract, Hypospadias, Abnormal preputium morphology,... |
ORPHA:84 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, True hermaphroditism, Cataract, Sclerocornea, Pancreatic fibrosis... |
ORPHA:564 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Cataract, Short neck, Large for gestational age, Kyphosis, Abnormality of the ve... |
ORPHA:77301 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract |
ORPHA:891 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Obesity, Astigmatism |
OMIM:616078 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Abnormality... |
OMIM:612199 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Corneal opacity, Scoliosis, Short neck |
ORPHA:96061 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Foot joint contracture, Postnatal growth retardation, Tremor, Gait... |
ORPHA:90321 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Peters anomaly, Cryptorchidism, Buphthalmos, H... |
OMIM:236670 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Eosinophilia, Kyphoscoliosis, Supernumerary nipple, Keratitis,... |
OMIM:308300 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Splenomegaly, Anterior beak... |
OMIM:230000 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Scoliosis |
OMIM:611961 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Scoliosis, Short neck |
ORPHA:371364 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Osteomalacia, Kyphosis, Abnormal pupil mo... |
ORPHA:534 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocy... |
ORPHA:520 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platyspondyly, Neonata... |
OMIM:616482 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... |
OMIM:603457 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Male hypogonadism, Scoliosis, Cryptorchidism |
OMIM:615381 |
Igg4-Related Aortitis |
|
Low back pain, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Small scrotum, Small for gestational age, Short neck, Cryptorchidism, Micro... |
OMIM:609625 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cataract, Vaginal neoplasm, Abnormality of the female genitalia, Keratitis, Weight loss, Anterior... |
ORPHA:1018 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Cataract |
ORPHA:773 |
Osteogenesis Imperfecta |
|
Osteopenia, Ataxia, Corneal opacity, Cervical kyphosis, Kyphosis, Osteoporosis, Vertebral compres... |
ORPHA:666 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Microphthalmia, I... |
ORPHA:251014 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... |
ORPHA:2655 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... |
ORPHA:583 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Intrauterine gr... |
OMIM:609029 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Developmental cataract, Anemia, Microphthalmia, Thrombocytopenia |
OMIM:620185 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Dystonia, Intention tremor |
OMIM:619708 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Elevated circulating acylcarni... |
ORPHA:26791 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Facial palsy, Camptodactyly of finger, Kyphosis, Growth delay, Gait distur... |
ORPHA:261349 |
Adams-Oliver Syndrome |
|
Cataract, Leukopenia, Microphthalmia, Failure to thrive, Thrombocytopenia |
ORPHA:974 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Spastic gait |
OMIM:207800 |
Papillorenal Syndrome |
|
Cataract, Elevated circulating creatinine concentration, Scoliosis, Lens luxation |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Cataract, Optic nerve hypoplasia, Peters anomaly, Death in childhood, Microphth... |
OMIM:614643 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Short neck, Nuclear pulverulent cataract, Truncal obesity, Scoliosis,... |
OMIM:612474 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Aredyld Syndrome |
|
Cachexia, Scoliosis |
ORPHA:1133 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal... |
OMIM:164310 |
Farber Disease |
|
Osteoporosis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to thrive |
OMIM:257850 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Failure to thrive, Abnormal blood ion concentration, Weight loss |
ORPHA:95427 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Developmental cataract, Microcornea, Male urethral meatus stenosis, Scolio... |
ORPHA:464738 |
Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, ... |
OMIM:230500 |
Majeed Syndrome |
|
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi... |
ORPHA:77297 |
Hurler Syndrome |
|
Corneal opacity, Short neck, Spinal canal stenosis, Scoliosis, Abnormal vertebral morphology |
ORPHA:93473 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital diaphragmatic her... |
OMIM:265000 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterio... |
OMIM:612582 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Hyperlordosis |
OMIM:619980 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition,... |
OMIM:619148 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive |
ORPHA:476126 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Decreased circulating ACTH con... |
ORPHA:199299 |
Trisomy 18 |
|
Cataract, Cachexia, Cryptorchidism, Microcornea, Microphthalmia, Abnormal morphology of female in... |
ORPHA:3380 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Osteoporosis, Corneal stromal edema, Osteolytic defects of the distal phalanges ... |
OMIM:601812 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Abnormality of ... |
ORPHA:861 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o... |
OMIM:253200 |
Mucopolysaccharidosis Type 1 |
|
Scoliosis, Corneal opacity, Spinal canal stenosis, Abnormal form of the vertebral bodies |
ORPHA:579 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia |
OMIM:610217 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... |
ORPHA:95409 |
Arthrogryposis, Distal, Type 5D |
|
Hypoplastic labia majora, Hyperlordosis, Scoliosis, Short neck |
OMIM:615065 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Brushfield spots, Unsteady gait, Epiphyseal stippling, Aminoaciduria, Opacification of ... |
OMIM:214100 |
Craniolenticulosutural Dysplasia |
|
Posterior wedging of vertebral bodies, Posterior Y-sutural cataract, Scoliosis |
ORPHA:50814 |
Bethlem Myopathy |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity |
ORPHA:610 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Medullary Thyroid Carcinoma |
|
Weight loss, Elevated circulating calcitonin concentration |
ORPHA:1332 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Hyperton... |
ORPHA:192 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Hemivertebrae, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Fryns Syndrome |
|
Hypospadias, Corneal opacity, Short neck, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Flexion contracture, Abnormal form of the vertebral bod... |
ORPHA:3042 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Failure to thrive, Short... |
ORPHA:175 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... |
ORPHA:425 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormality of body weight, Abnormal circulating leptin... |
ORPHA:2298 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Sacral dimple, Cataract, Brushfield spots, Lens coloboma, Blue irides, M... |
OMIM:619539 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Astigmatism, Sclerocornea |
ORPHA:2095 |
Autosomal Recessive Centronuclear Myopathy |
|
Hyperlordosis |
ORPHA:169186 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Annular ... |
OMIM:227646 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... |
OMIM:271510 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Failure to thrive, Thyroid C cell hyperplasia, Sclerocornea |
OMIM:300952 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity |
OMIM:614947 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Short neck |
OMIM:608776 |
Carpenter Syndrome 1 |
|
Sacral dimple, Sagittal craniosynostosis, Short neck, Microcornea, Opacification of the corneal s... |
OMIM:201000 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Craniosynostosis, Thoracolumbar kyphoscoliosis, ... |
OMIM:252500 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Cataract, Anemia |
OMIM:175500 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Cataract, Ocular albinism, Weight loss, Astigmatism, Neutropenia, Iris hypopigm... |
ORPHA:79430 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Short stature, Scoliosis |
ORPHA:2479 |
Poems Syndrome |
|
Weight loss, Hypogonadism, Erectile dysfunction, Thrombocytosis, Sclerotic vertebral endplates, P... |
ORPHA:2905 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavio... |
ORPHA:580 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism, Lumbar hyperlordosis |
OMIM:602471 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Intrauterine growth retardation |
ORPHA:2115 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis, Failure to thrive in i... |
OMIM:613385 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Scoliosis, Iris coloboma, Coarse metaphy... |
ORPHA:2092 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Sclerocornea, Kyphosis, Osteoporosis, Abnormal form of the vertebral bodie... |
ORPHA:280 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip... |
OMIM:618050 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
Dubowitz Syndrome |
|
Sacral dimple, Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lympho... |
OMIM:223370 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Contrac... |
OMIM:617527 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Corneal opacity, Ataxia, Elevated circulating C-react... |
ORPHA:355 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Vertebral segmentation def... |
ORPHA:1005 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:3121 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Weight loss,... |
ORPHA:97287 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Atlanto... |
OMIM:607095 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Weight loss, Iron deficiency anemia, Infertility, Thrombocytosis, Failure to t... |
OMIM:212750 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... |
OMIM:146510 |
Trisomy 20P |
|
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:261318 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples, Short neck |
OMIM:156610 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... |
ORPHA:90794 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Short neck |
ORPHA:3082 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulceration |
OMIM:153400 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Kyphosis, Attention deficit hyperactivity disorder, Lisch nodu... |
ORPHA:636 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria |
ORPHA:2714 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatosplenomegaly, Weight loss, Scoliosis, Micropenis, Failure to thrive, Anemia |
OMIM:619487 |
Camurati-Engelmann Disease |
|
Cachexia, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral column,... |
ORPHA:1328 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Sacral dimple, Scoliosis |
ORPHA:435638 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Highly elevated creatine kinase, Decreased body weight, Scoliosis, Hyperlordosis |
ORPHA:258 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Cataract, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoi... |
OMIM:272460 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract, Scoliosis, Spinal rigidity |
OMIM:253800 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Short neck, Large for gestational age, Cry... |
OMIM:229850 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotenc... |
ORPHA:49041 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Obesity, Scoliosis, Intrauterine growth retardation, Arthrogryposis multipl... |
ORPHA:254346 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... |
ORPHA:324 |
Saethre-Chotzen Syndrome |
|
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Dysmetria, Abnormal form of the v... |
ORPHA:904 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Failure to thrive, Intention tremor |
OMIM:212065 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Cousin Syndrome |
|
Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous geni... |
OMIM:260660 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive |
ORPHA:420794 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Vertebral segmentation defect |
ORPHA:1915 |
Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Limb hyper... |
OMIM:617190 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:268 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple, Scoliosis |
OMIM:620098 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... |
OMIM:250250 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Hypospadias, Small for gestational age, Testicular neoplasm, Hyperlordosis, Precoc... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Hypospadias, Small for gestational age, Testicular neoplasm, Hyperlordosis, Precoc... |
ORPHA:363958 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Fused cervical vertebrae, Scoliosis, Microphthalmia, Spina bifid... |
OMIM:607323 |
Wolman Disease |
|
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Aapoaiv Amyloidosis |
|
Back pain, Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Weight loss |
OMIM:617321 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoporosis, Kays... |
OMIM:277900 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Contractures of the large joints, Progressive s... |
ORPHA:521426 |
Steinfeld Syndrome |
|
Absent gallbladder, Abnormality of the vertebral column, Microphthalmia, Abnormal vertebral morph... |
OMIM:184705 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Failure to thrive in infancy, Short neck, Abnormality of the s... |
ORPHA:2162 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Macroglossia, Scoliosis |
ORPHA:261144 |
Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Weight loss, Hypophosphatemia, Hypokalem... |
ORPHA:3337 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia, Short neck |
OMIM:251230 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... |
OMIM:601186 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Anophthalmia, Hypospadias, Failure to thrive, Sclerocor... |
ORPHA:2556 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Kyphosis, Scapular winging, Scoliosis |
OMIM:617061 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Weight loss, Conjunct... |
ORPHA:36426 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:250420 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Intrauterine ... |
OMIM:617602 |
3Mc Syndrome 3 |
|
Sacral dimple, Corneal opacity |
OMIM:248340 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Short neck, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia maj... |
OMIM:263650 |
Pyomyositis |
|
Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Tsh-Secreting Pituitary Adenoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Secondary growth ... |
ORPHA:91347 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Aminoaciduria, Opacification of the corneal stroma, Elevated circulat... |
OMIM:214110 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Hypogonadism, Hyperlordosis |
ORPHA:3253 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, External genital hypoplasia, Short neck, Cryptorchidism, Micropenis, Decrea... |
ORPHA:251028 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Opacification of the corneal stroma, Microphthalmia, Micropenis, Penile hypos... |
ORPHA:1692 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Weight loss |
ORPHA:142 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Kyphosis, Platyspondyly, Short stature |
OMIM:616294 |
Felty Syndrome |
|
Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Corneal opacity, Limb ataxia, Abnormal temper tantrums, Scoliosis, Thoracolumba... |
ORPHA:2072 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
Fountain Syndrome |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, De... |
ORPHA:33364 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Prostate ne... |
ORPHA:99867 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Abnormal cornea morphology, Aminoaci... |
ORPHA:411629 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Scoliosis, Peters anomaly, Microphthalmia, Ann... |
OMIM:616975 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple, Iris coloboma, Scoliosis |
ORPHA:1236 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Hypoplasia of the iris, Opacification of the corneal stroma,... |
OMIM:251300 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggress... |
ORPHA:99826 |
Myhre Syndrome |
|
Vertebral fusion, Cataract, Small for gestational age, Short neck, Cryptorchidism, Obesity, Enlar... |
OMIM:139210 |
3C Syndrome |
|
Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae, Scoliosis |
ORPHA:7 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis |
ORPHA:1969 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... |
OMIM:219090 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract |
ORPHA:637 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma |
ORPHA:2396 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Failure to thrive, Spina bifida occulta, Astigmatism |
ORPHA:96148 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cataract, Short neck, Cryptorchidism, Long penis, Microphthalmia, Thrombocy... |
ORPHA:3103 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thr... |
ORPHA:71493 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Stillbirth, Cryptorchidism |
OMIM:616300 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... |
ORPHA:958 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:261190 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hypotrophy o... |
OMIM:610443 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Marfan Syndrome |
|
Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Kyphosis, Increased axial length of the glo... |
ORPHA:558 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic... |
ORPHA:93325 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Cole-Carpenter Syndrome |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... |
ORPHA:2050 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Thrombocytopenia, Cryptorchidism, Microphth... |
OMIM:620005 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Diastasis recti, Postnatal growth retardation, Kyphosis, Inabilit... |
ORPHA:576 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Cryptorchidism, Abnormal form of the vertebral bodies, Microphthalmia, Failure ... |
ORPHA:1106 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss |
OMIM:619377 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid con... |
OMIM:614866 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Weight loss |
ORPHA:100080 |
Cockayne Syndrome |
|
Cataract, Cachexia, Band keratopathy, Splenomegaly, Kyphosis, Cryptorchidism, Developmental catar... |
ORPHA:191 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... |
ORPHA:85138 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... |
OMIM:607944 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, In... |
ORPHA:100085 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Obesity |
ORPHA:261222 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Cataract, Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Mi... |
ORPHA:959 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Decreased body weight,... |
OMIM:619475 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Vertebral segmentation defect, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Intrauterine growth retardation |
ORPHA:2075 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Scolios... |
OMIM:300967 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism |
OMIM:619718 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Acrodermatitis Enteropathica |
|
Corneal erosion, Failure to thrive, Conjunctivitis, Weight loss |
ORPHA:37 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Developmental cataract... |
OMIM:300166 |
Nail-Patella Syndrome |
|
Back pain, Lester's sign, Lumbar hyperlordosis, Abnormal iris pigmentation, Primary congenital gl... |
ORPHA:2614 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Precocious puberty, Myopic astigmatism, Obesity, Hepatosplenomegaly, Cholelithiasis |
OMIM:301066 |
Oculoectodermal Syndrome |
|
Hyperactivity, Short neck, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal ... |
OMIM:600268 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Scoliosis |
ORPHA:300605 |
Toxic Epidermal Necrolysis |
|
Corneal erosion, Weight loss, Anemia, Conjunctivitis, Neutropenia, Abnormal vagina morphology, Th... |
ORPHA:537 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Aplasia/... |
ORPHA:646 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Macroglossia... |
OMIM:301040 |
Achondroplasia |
|
Death in infancy, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced ... |
OMIM:100800 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Intrauterine ... |
ORPHA:314588 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Short stature, Failure to thrive in infancy, Kyphosis, Poor gross motor co... |
OMIM:176270 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait... |
ORPHA:457359 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Scoliosis, Hyperlordosis |
ORPHA:3353 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus, Short neck |
OMIM:619879 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, De... |
ORPHA:221139 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Joubert Syndrome 2 |
|
Microphthalmia, Failure to thrive, Hypoplastic male external genitalia |
OMIM:608091 |
Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Hyperlordosis, Weight loss, Scoliosis, Failure to thrive |
ORPHA:2020 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Weight loss |
ORPHA:221098 |
Monosomy 9P |
|
Hypospadias, Short neck, Cryptorchidism, Abnormality of the vertebral column, Scoliosis, Ambiguou... |
ORPHA:261112 |
Lathosterolosis |
|
Cataract, Lumbosacral meningocele, Osteoporosis, Abnormal circulating cholesterol concentration, ... |
OMIM:607330 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short stature, Short neck, Kyphosis, Scoliosis, Biconcav... |
OMIM:130720 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Aicardi Syndrome |
|
Cataract, Block vertebrae, Precocious puberty, Hemivertebrae, Scoliosis, Microphthalmia, Butterfl... |
OMIM:304050 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss |
ORPHA:29072 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia |
OMIM:614083 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Optic nerve hypoplasia, Thoracic hemiver... |
ORPHA:508498 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Anemia |
OMIM:184850 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland ag... |
OMIM:273395 |
Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Scoliosis... |
ORPHA:398069 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Microsporidiosis |
|
Cachexia, Keratitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Abnormal en... |
ORPHA:2552 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Severe short stature, Camptodactyly of ... |
ORPHA:2215 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... |
ORPHA:2166 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Weight loss |
ORPHA:100082 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Short neck, Uterus didelphys, Neonatal death, Microphthalmia,... |
OMIM:617925 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidism, Obesity, Pi... |
OMIM:615873 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Phimosis, Scoliosis, Death in childhood, Microphthalmia, Decreased testicu... |
OMIM:309500 |
Al Amyloidosis |
|
Howell-Jolly bodies, Weight loss, Abnormal salivary gland morphology, Autonomic erectile dysfunct... |
ORPHA:85443 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Ataxia, Keratitis, Aminoaciduri... |
ORPHA:910 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Whipple Disease |
|
Erectile dysfunction, Splenomegaly, Cachexia, Anemia |
ORPHA:3452 |
Brucellosis |
|
Miscarriage, Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:1304 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... |
OMIM:619636 |
Cockayne Syndrome Type 3 |
|
Cataract, Splenomegaly, Kyphosis, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Scoliosis... |
ORPHA:90324 |
Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Generalized aminoaciduria, Reduced blood urea nitroge... |
OMIM:219800 |
Malignant Atrophic Papulosis |
|
Cataract, Weight loss |
ORPHA:679 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... |
ORPHA:2461 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Short neck, Kyphosis, Flexion contracture, Macroglossia, Mil... |
OMIM:309900 |
Momo Syndrome |
|
Bilateral microphthalmos, Large for gestational age, Obesity, Short neck |
ORPHA:2563 |
Cockayne Syndrome A |
|
Hip contracture, Short stature, Ataxia, Tremor, Kyphosis, Severe postnatal growth retardation, Ga... |
OMIM:216400 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis |
OMIM:619557 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Short neck, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:616734 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Failure to thrive, Corneal opacity |
ORPHA:364577 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Posterior embryotoxon, Cataract, Hypospadias, Short neck, Splenomegaly, Crypt... |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Developmental cataract, Cryptorchidism |
ORPHA:2108 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Hyperammonemia, Weight loss |
ORPHA:134 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Osteoporosis, Opacification of the corneal stroma, Dysphagia,... |
OMIM:601559 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Osteolysis |
ORPHA:1052 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Sclerocornea, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Self-injurio... |
ORPHA:818 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature |
ORPHA:1860 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:365 |
Alveolar Echinococcosis |
|
Low back pain, Eosinophilia, Pancreatic cysts, Weight loss, Abnormal spleen morphology, Abnormal ... |
ORPHA:284 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Small scrotum, Small for gestational age, Absent nipple, Cryptorchidism, Hypopl... |
OMIM:612289 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Short neck, Cryptorchidism, Stillbirth, Neonatal death, Microphthalmia, P... |
OMIM:256520 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Weight loss, Hepatosplenomegaly, Ovarian carcinoma |
ORPHA:1333 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis |
ORPHA:96169 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Campt... |
OMIM:143095 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Elevated circulating growth hormone concentratio... |
ORPHA:913 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... |
OMIM:175780 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, ... |
ORPHA:2052 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Kyphosis, Corneal erosion, Platyspondyly, Astigmatism, Conjunctivitis... |
ORPHA:2273 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus, Short neck |
OMIM:617666 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis |
ORPHA:3310 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Hepatosplenomegaly, Anemia, Leukopenia, Lumbar kyphosis, Thorac... |
ORPHA:505248 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Bifid thoracic vertebrae |
ORPHA:268249 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619951 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Prominent corneal nerve fibers, Kyphoscoliosis, Hyperlordosis, Thyroid C cell ... |
ORPHA:653 |
Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Catara... |
ORPHA:857 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Cryptorchidism |
OMIM:305450 |
Spondyloenchondrodysplasia |
|
Short stature, Kyphosis, Chorea, Disproportionate short-trunk short stature, Platyspondyly, Spast... |
ORPHA:1855 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, C... |
OMIM:277590 |
Limb Body Wall Complex |
|
Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc... |
ORPHA:2369 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma |
OMIM:613884 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Corneal opacity, Abnormal curvature of the vertebral column, Developmental cataract, ... |
ORPHA:90348 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Short neck, Cryptorchidism, Antecubital pterygium, Popliteal pterygiu... |
OMIM:609945 |
Vipoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro... |
ORPHA:97282 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Vertebral hyperostosis |
OMIM:164200 |
Seckel Syndrome |
|
Cachexia, Scoliosis |
ORPHA:808 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Failure to thrive, Weight loss |
ORPHA:79128 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma, Short neck |
ORPHA:1587 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Short neck, Precocious puberty, Hyperlordosis, Scoliosis, Macroorchidism, Failure ... |
OMIM:619950 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Short neck, Asplenia, Splenomegaly, Cryptorchidism... |
OMIM:249000 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss |
ORPHA:424 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
Lathosterolosis |
|
Microcornea, Abnormal thoracic spine morphology, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Alstrom Syndrome |
|
Kyphosis, Short stature, Truncal obesity, Scoliosis |
OMIM:203800 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa... |
ORPHA:275761 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypertriglyceridemia, Cataract, Corneal opacity, Ataxia, Irregular sclerotic endplate... |
ORPHA:3455 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Scolio... |
ORPHA:138 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Increased serum serotonin, Weight loss |
ORPHA:100075 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Failure to thrive |
OMIM:617729 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Microphthalmia, ... |
ORPHA:2538 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Aicardi Syndrome |
|
Block vertebrae, Precocious puberty, Scoliosis, Microphthalmia, Butterfly vertebrae |
ORPHA:50 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Sacrococcygeal pil... |
ORPHA:468631 |
Noonan Syndrome 14 |
|
Kyphosis, Scapular winging, Short stature, Short neck |
OMIM:619745 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... |
ORPHA:573278 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, C... |
OMIM:113620 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Chime Syndrome |
|
Corneal opacity, Osteolysis |
ORPHA:3474 |
Granulomatosis With Polyangiitis |
|
Keratitis, Granulomatosis, Conjunctivitis, Weight loss |
OMIM:608710 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Cataract, Mic... |
ORPHA:141099 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract |
OMIM:618458 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Cataract, Corneal opacity |
OMIM:274000 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Short stature |
OMIM:239000 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro... |
ORPHA:97278 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Hydrocele testis, H... |
OMIM:620186 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypercalcemia, Weight loss |
ORPHA:143 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Short stature, Ataxia, Small for gestational age, Failure to thr... |
ORPHA:268261 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Hyperammonemia, Weight loss |
ORPHA:20 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Secondary amenorrhea |
OMIM:610489 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Short stature, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:602535 |
Degcags Syndrome |
|
Pancytopenia, Sacral dimple, Hypospadias, Small for gestational age, Congenital hypoplastic anemi... |
OMIM:619488 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Cataract, Elevated circulating C-reactive protein concentration, Anorexia, Anterior chamber flare... |
ORPHA:91500 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Conjunctival icterus, Weight loss, Cholelithiasis |
ORPHA:53035 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Reduced ... |
OMIM:301074 |
Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... |
ORPHA:3472 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cataract, Weight loss |
OMIM:607459 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:140 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Cowden Syndrome |
|
Ataxia, Short stature, Kyphosis, Macroglossia, Scoliosis, Failure to thrive |
ORPHA:201 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:261250 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Cat... |
OMIM:214800 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Clitoral hypoplasia, Hypoplas... |
OMIM:305600 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Reduced bone mineral density, Progressive clavicular acroosteolysis, Osteolytic ... |
ORPHA:740 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Spinal canal stenosis, Corneal opacity, Abnormal vertebral morphology |
ORPHA:217085 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Vertebral segmentation defect, Iris coloboma, Absent gallbladder |
ORPHA:3186 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Spinal canal stenosis, Corneal opacity, Abnormal vertebral morphology |
ORPHA:217093 |
Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Behçet Disease |
|
Cataract, Orchitis, Splenomegaly, Weight loss, Keratoconjunctivitis sicca |
ORPHA:117 |
Somatostatinoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro... |
ORPHA:97283 |
Stickler Syndrome |
|
Cataract, Cachexia, Ectopia lentis, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebr... |
ORPHA:828 |
Peters Plus Syndrome |
|
Sacral dimple, Cataract, Corneal opacity, Short neck, Microcornea, Peters anomaly, Spina bifida o... |
ORPHA:709 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Sacral dimple, Sclerocornea |
OMIM:600920 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Anemia, Weight loss |
ORPHA:35687 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Cryptorchidism, Microcornea, Micr... |
OMIM:607932 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Proteus Syndrome |
|
Thymus hyperplasia, Cataract, Central heterochromia, Testicular neoplasm, Cachexia, Enlarged poly... |
ORPHA:744 |
Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Unilateral cryptorchidism, Small for gestational age, Phimosis, Decreased ... |
OMIM:613406 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Caudal appendage |
OMIM:272950 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Dysphagia, Corneal opacity |
ORPHA:2908 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro... |
ORPHA:97261 |
Gaucher Disease Type 1 |
|
Growth delay, Kyphosis, Vertebral compression fracture, Delayed puberty |
ORPHA:77259 |
Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Weight loss |
ORPHA:99819 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... |
OMIM:619194 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Short neck, Cryp... |
OMIM:268300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Decreased body weight, Scoliosis, Intrauterine growth retardation |
OMIM:619005 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging, Intrauterine growth retardation |
OMIM:616914 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:115470 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Rat-Bite Fever |
|
Back pain, Parotitis, Anemia, Weight loss |
ORPHA:31205 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Keratoconjunctivitis sicca, Weight loss |
ORPHA:309031 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Scoliosis |
ORPHA:109 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:619123 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Abnormality of the cervical spine, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Hemivertebrae, Gonadotropin deficiency, Micropenis, Apl... |
ORPHA:672 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss |
ORPHA:160 |
Polycythemia Vera |
|
Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Ramon Syndrome |
|
Kyphosis, Short stature, Scoliosis, Decreased body weight |
OMIM:266270 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
Glucagonoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro... |
ORPHA:97280 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia, Cataract |
ORPHA:2526 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis |
ORPHA:261330 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short stature, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, ... |
ORPHA:1606 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight ... |
ORPHA:103918 |
Q Fever |
|
Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:781 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Cryptorchidism |
ORPHA:536532 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:619482 |
Zttk Syndrome |
|
Short stature, Kyphosis, Flexion contracture, Hemivertebrae, Growth delay, Scoliosis, Intrauterin... |
OMIM:617140 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... |
OMIM:235730 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Mend Syndrome |
|
Sacral dimple, Short stature, Kyphosis, Hypertonia, Failure to thrive |
OMIM:300960 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
African Trypanosomiasis |
|
Miscarriage, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Hepatosplenomegaly, Wei... |
ORPHA:3385 |
Mgat2-Cdg |
|
Kyphosis, Failure to thrive, Scoliosis |
ORPHA:79329 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Failure to thrive, Corneal opacity |
OMIM:608670 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Anophthalmia, Hypospadias, Kyphoscoliosis, Cryptorchidism, Microcornea, Cil... |
OMIM:309800 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Weight loss |
ORPHA:100078 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:420741 |
Sarcoidosis |
|
Hemolytic anemia, Cataract, Parotitis, Eosinophilia, Abnormal reproductive system morphology, Inc... |
ORPHA:797 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Short stature, Small for gestational age,... |
OMIM:194190 |
Hajdu-Cheney Syndrome |
|
Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Delayed puberty... |
ORPHA:955 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Microphthalmia... |
OMIM:236680 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Frank-Ter Haar Syndrome |
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Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... |
OMIM:249420 |
Fraser Syndrome 1 |
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Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Bicornuate ... |
OMIM:219000 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Sacral dimple, Thoracolumbar scoliosis, Decreased response to growth hormone st... |
OMIM:619503 |
Digeorge Syndrome |
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Pilonidal sinus, Sclerocornea, Hypocalcemia, Attention deficit hyperactivity disorder, Scoliosis,... |
OMIM:188400 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome... |
OMIM:614162 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Aspartylglucosaminuria |
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Short stature, Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaki... |
OMIM:208400 |
Gallbladder Neuroendocrine Tumor |
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Weight loss |
ORPHA:100086 |
Familial Osteodysplasia, Anderson Type |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility |
OMIM:244400 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Keratoconjunctivitis sicca, ... |
ORPHA:79078 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Thrombocytopenia |
OMIM:615846 |
Turnpenny-Fry Syndrome |
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Thoracic kyphoscoliosis, Failure to thrive, Lumbar hyperlordosis, Decreased body weight |
OMIM:618371 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Juvenile Polyposis Of Infancy |
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Refractory anemia, Cachexia, Freckled genitalia, Anemia |
ORPHA:79076 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Weight loss, Hepatosplenomegaly, Neoplasm of the ga... |
ORPHA:171 |
Autosomal Recessive Robinow Syndrome |
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Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Disp... |
ORPHA:1507 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... |
OMIM:300106 |
Malt Lymphoma |
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Anemia, Weight loss |
ORPHA:52417 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Crypt... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Cryptorchidism, Hyd... |
ORPHA:261537 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Short neck, Acute leukemia, Thrombocytop... |
ORPHA:647 |
Treacher Collins Syndrome 1 |
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Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Cryptorchidism, Hyd... |
ORPHA:2152 |
Granulomatosis With Polyangiitis |
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Granulomatosis, Prostatitis, Weight loss |
ORPHA:900 |
Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
Postinfectious Vasculitis |
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Abnormal circulating protein concentration, Elevated haptoglobin level, Elevated circulating C-re... |
ORPHA:48435 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Kyphosis |
OMIM:609944 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Weight loss |
ORPHA:99885 |
Cdags Syndrome |
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Kyphosis |
OMIM:603116 |
Coffin-Siris Syndrome 1 |
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Sacral dimple, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyph... |
OMIM:135900 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Yellow Fever |
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Low back pain, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
ORPHA:99829 |
Iniencephaly |
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Absent vertebra, Hyperlordosis |
ORPHA:63259 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Cachexia |
ORPHA:220295 |
Cleidocranial Dysplasia 1 |
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Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Reactive Arthritis |
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Conjunctivitis, Weight loss |
ORPHA:29207 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
Chronic Graft Versus Host Disease |
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Pancytopenia, Phimosis, Weight loss, Keratoconjunctivitis sicca, Recurrent corneal erosions, Abno... |
ORPHA:99921 |
Poland Syndrome |
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Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Sp... |
ORPHA:2911 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Classic Homocystinuria |
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Kyphosis, Scoliosis, Hemiplegia/hemiparesis |
ORPHA:394 |
Kikuchi-Fujimoto Disease |
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Splenomegaly, Weight loss, Anemia, Leukopenia, Enlargement of parotid gland, Lymphocytosis, Neutr... |
ORPHA:50918 |
Hereditary Acrokeratotic Poikiloderma |
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Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Lisch nodules, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
Neurocardiofaciodigital Syndrome |
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Cataract, Sclerocornea |
OMIM:619869 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Flexion contracture, K... |
OMIM:259050 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Wrinkly Skin Syndrome |
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Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Scoliosis, Intrauterine... |
OMIM:278250 |
Holoprosencephaly 2 |
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Anterior pituitary agenesis, Microphthalmia, Iris coloboma, Scoliosis |
OMIM:157170 |
Cerebrocostomandibular Syndrome |
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Kyphosis, Short stature, Intrauterine growth retardation |
ORPHA:1393 |
Adams-Oliver Syndrome 1 |
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Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, K... |
ORPHA:500150 |
Nocardiosis |
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Keratitis, Conjunctivitis, Weight loss |
ORPHA:31204 |
Lenz-Majewski Hyperostotic Dwarfism |
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Kyphosis, Hypogonadism, Scoliosis, Cryptorchidism |
ORPHA:2658 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... |
ORPHA:99413 |
Mosaic Monosomy X |
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Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... |
ORPHA:99228 |
Monosomy X |
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Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... |
ORPHA:99226 |
Turner Syndrome |
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Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... |
ORPHA:881 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated... |
OMIM:619534 |
Somatomammotropinoma |
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Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Impotence, Amenorrhea |
ORPHA:314769 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Weight loss, Abnormal salivary gland morpho... |
OMIM:181000 |
8Q24.3 Microdeletion Syndrome |
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Thoracic scoliosis, Ectopic posterior pituitary, Small for gestational age, Optic nerve hypoplasi... |
ORPHA:508488 |
Dermatomyositis |
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Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Coffin-Lowry Syndrome |
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Short stature, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight |
OMIM:303600 |
Acromegaly |
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Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Impotence |
ORPHA:963 |
Holoprosencephaly 1 |
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Microphthalmia, Micropenis |
OMIM:236100 |
Occipital Horn Syndrome |
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Growth delay, Kyphosis, Platyspondyly |
OMIM:304150 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Opacification of the corneal stroma, Scoliosis, Recurrent corneal erosions, Corneal ne... |
OMIM:308205 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Kyphosis |
ORPHA:85199 |
17Q11 Microdeletion Syndrome |
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Abnormal central motor function, Short stature, Rhabdomyosarcoma, Kyphosis, Abnormality of the ve... |
ORPHA:97685 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:2388 |
Yunis-Varon Syndrome |
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Absent sternal ossification, Cataract, Anterior concavity of thoracic vertebrae, Sclerocornea, Ky... |
OMIM:216340 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Hyperlordosis |
ORPHA:73223 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Craniofacial Microsomia 1 |
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Anophthalmia, Block vertebrae, Hemivertebrae, Scoliosis, Limbal dermoid, Microphthalmia, Vertebra... |
OMIM:164210 |
Sotos Syndrome |
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Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ... |
ORPHA:821 |
Goodpasture Syndrome |
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Increased blood urea nitrogen, Weight loss |
OMIM:233450 |
Viss Syndrome |
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Short stature, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Contracture of the proximal ... |
OMIM:619472 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia, Cachexia |
ORPHA:75565 |