Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
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 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 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 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 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
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 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
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 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Azoospermia, Male hypogonadism, Syndactyly |
OMIM:241000 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Ataxia, Infertility, Testicular atrophy |
OMIM:613909 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Hypogonadism |
OMIM:615988 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Large hands, Decreased testicular size |
ORPHA:85287 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Hypogonadism, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
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, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Abnormal earlobe mor... |
OMIM:186350 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Preaxial polydactyly, Micropenis, Ataxia |
OMIM:614464 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly |
OMIM:615982 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Hypogonadism |
OMIM:615987 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly, Stillbirth, ... |
ORPHA:294975 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... |
OMIM:615990 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Hydrocephalus, Talipes equinovarus, Shuffling gait, Ventriculomegaly, Ad... |
OMIM:303350 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
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 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Abnormal sperm head morphology, Reduced sperm motility, Infertility, Di... |
ORPHA:320391 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Hypogonadism, Clinodactyly |
OMIM:615984 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Abnor... |
ORPHA:65759 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Diabetes mellitus, Preaxial foot polydactyly |
OMIM:601759 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e... |
OMIM:601382 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Ambi... |
OMIM:618142 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus |
ORPHA:250994 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Polydactyly |
OMIM:615991 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing impairment |
OMIM:615993 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short neck, Hydrocephalus, Azoospermia, Cubitus valgus, Short 4th... |
ORPHA:2183 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidism, Radial club hand |
ORPHA:1738 |
Laurence-Moon Syndrome |
|
Small scrotum, Ataxia, Abnormality of the hand, Polydactyly, Micropenis |
OMIM:245800 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Hypogonadism |
OMIM:617119 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Bilateral cryptorchidism, Central Y-shaped metacarpal,... |
ORPHA:2754 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Small scrotum, Hypospadias, Single transverse palmar crease, Adr... |
OMIM:612651 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Tapered finger |
OMIM:300706 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Hydrocephalus, Shoulder dislocation, Gait disturbance, Scoliosis, Adduc... |
ORPHA:2181 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Kyphoscoliosis |
OMIM:300886 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Scoliosis |
ORPHA:85335 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Scoliosis, Clinodactyly, Hypoplastic... |
OMIM:618577 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Hydroceph... |
ORPHA:2635 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Micrope... |
OMIM:248340 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... |
OMIM:617926 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Cr... |
OMIM:308750 |
Partington Syndrome |
|
Macroorchidism, Gait disturbance |
ORPHA:94083 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... |
OMIM:619260 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Postaxial polydactyly |
OMIM:615985 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Hyd... |
ORPHA:377 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Small hand, Scoliosis |
OMIM:300884 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Abnormal pinna morphology, Tarsal synostosis, Short hall... |
ORPHA:90652 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Bresek Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, Scoliosis, Neonatal dea... |
ORPHA:85284 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Brachydactyly, Postaxial polydactyly, Postax... |
OMIM:615986 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydactyly, Postaxial foot po... |
OMIM:615996 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Syndactyly, Lumbar hyperlordosis, Hydranencephaly, Camptodactyly of finger, Fifth ... |
ORPHA:2839 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Gait ataxia, Abnormal shoulder morphology, Gait disturbance, Abnormal posturing |
ORPHA:157941 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture, Broad-based gait |
OMIM:619470 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Cryptorchidism, Long penis, Coxa vara, Abnormal fibula morphology... |
ORPHA:1988 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Abnormal pinna morphology, Posteriorly rotated ears, Wide anterior fontanel, E... |
ORPHA:313781 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Inability to walk, Hydrocephalus, Gait ataxia, Hip dysplasia... |
OMIM:616362 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with generalized polyspikes, Preaxial polydactyly, EEG with generalized epileptiform discharg... |
ORPHA:163681 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum,... |
ORPHA:397590 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb |
ORPHA:2091 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hy... |
OMIM:614175 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Scoliosis, Clinodactyl... |
OMIM:616222 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Difficulty ... |
ORPHA:531151 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Broad dis... |
OMIM:615761 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... |
OMIM:276950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Fla... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Anencephaly, Preaxial polyda... |
OMIM:616546 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Abnormal posturing |
OMIM:614857 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Male pseudohermaphroditism, Kyphosis, Hy... |
ORPHA:2075 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Hearing impairment |
OMIM:166200 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Abnormal external genitalia, Upper limb asymmetry |
ORPHA:231140 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ... |
ORPHA:8 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Conductive hea... |
OMIM:201000 |
Diencephalic Syndrome |
|
Large hands, Long penis, Hydrocephalus |
ORPHA:1672 |
Joubert Syndrome 10 |
|
Postaxial polydactyly, Rod-cone dystrophy, Low-set ears |
OMIM:300804 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo... |
OMIM:615994 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... |
OMIM:617102 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Cryptorchidism, Hydrocephalus, Abnormality of the elbow,... |
ORPHA:2701 |
Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,... |
OMIM:305400 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Postaxial polydactyly, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Interphalangeal joint contracture of finger |
OMIM:606242 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Femoral bowing present at birth, straightening with time, Hearing impairment |
OMIM:166220 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
Nephronophthisis 15 |
|
Polydactyly, Retinal degeneration |
OMIM:614845 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ... |
OMIM:619951 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Bilateral talipes equinovarus, Ataxia |
OMIM:618174 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Retinal dystrophy |
OMIM:614465 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Thyroid carcinoma, Foo... |
ORPHA:210548 |
Acalvaria |
|
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abno... |
ORPHA:580 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, V... |
OMIM:605231 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Radioulnar ... |
ORPHA:171839 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... |
ORPHA:1215 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormal posturing, Tip-toe gait, Gait disturbance |
ORPHA:216866 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus, Short neck |
ORPHA:251046 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Polydactyly, Talipes equinovarus, Ambiguous g... |
OMIM:613885 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Limited mobility of proximal interphalangeal joint... |
OMIM:222300 |
Alexander Disease |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Wide anterior fontanel, Preaxial hand poly... |
ORPHA:3098 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A... |
OMIM:613464 |
Cousin Syndrome |
|
Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, ... |
OMIM:260660 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hydrocephalus,... |
OMIM:109120 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Low-set ears, Retinal va... |
OMIM:243605 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Abnormal auditory e... |
OMIM:193700 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy |
OMIM:304700 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Diaphyse... |
ORPHA:217085 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials |
OMIM:617523 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Spina bifida, Myelome... |
ORPHA:2437 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Sh... |
OMIM:101800 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Ventriculomegaly |
OMIM:602501 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Diaphyse... |
ORPHA:217093 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism... |
ORPHA:1865 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Adducted thumb |
ORPHA:275543 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Sacral dimple, Hydrocephalus, Short neck |
ORPHA:1516 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Hip dysplasia, Platysp... |
ORPHA:2655 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Kyphosis, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Hypogonadism, Gai... |
ORPHA:500055 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar h... |
OMIM:609945 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Abnormality... |
ORPHA:95699 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Abnormal me... |
ORPHA:93274 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Carpenter Syndrome 2 |
|
Short digit, Hitchhiker thumb, Single transverse palmar crease, Supernumerary nipple, Postaxial p... |
OMIM:614976 |
Rhombencephalosynapsis |
|
Finger syndactyly, Ataxia, Hydrocephalus, Polydactyly, Abnormality of the uterus, Complete duplic... |
ORPHA:59315 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... |
OMIM:187600 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Upper limb undergrowth, Microtia, Recurrent otitis media, Progressive conductive he... |
ORPHA:529962 |
Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis |
OMIM:611560 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Preaxial hand polydactyly, Overfolded helix, Abnormal antihelix morphology, Large ... |
ORPHA:79113 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Truncal ataxia, Dandy-Walker... |
OMIM:220220 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Epiphyseal stippl... |
ORPHA:1914 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphosc... |
OMIM:614815 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypogonadism, Hypoplasia of the femoral head |
OMIM:616629 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Scoliosis |
ORPHA:363717 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Hydrometrocolpos, Postaxial foot polydactyly, Hypogonadism, Polydacty... |
OMIM:615989 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Short neck, Cryptorchidism, Hydrocephalus, M... |
ORPHA:3376 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
Joubert Syndrome 20 |
|
Inability to walk, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ... |
OMIM:100800 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Brach... |
ORPHA:2180 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Gait distur... |
OMIM:609757 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Clinodactyly, ... |
OMIM:618950 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Postaxial polydactyly, Preaxial polydactyly, Uterus didelphys... |
OMIM:617925 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Joubert Syndrome 37 |
|
Cryptorchidism, Micropenis, Decreased testicular size, Postaxial polydactyly |
OMIM:619185 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered ... |
OMIM:613776 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Chorea, Titubation, Gait ataxia, Gait disturbance, Abnormal posturing |
ORPHA:225147 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly... |
ORPHA:77298 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Ataxia, Postaxial polydactyly, Nephroge... |
OMIM:209900 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Gait disturbance, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Unsteady gait, Scoliosis |
OMIM:617542 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Chorioretinal coloboma, Triphalangeal thumb, Conductive hearing impairment... |
ORPHA:959 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand pol... |
OMIM:314390 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Short femur, Mesoaxial hand polydactyly,... |
OMIM:277170 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... |
OMIM:616034 |
Joubert Syndrome 27 |
|
Polydactyly, Ataxia, Gait ataxia |
OMIM:617120 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hydrocephalus, Gait ataxia, Scoliosis, Ventriculomegaly |
OMIM:616355 |
Diabetic Embryopathy |
|
Cryptorchidism, Abnormal sacrum morphology, Hydrocephalus, Spinal dysraphism, Vertebral segmentat... |
ORPHA:1926 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism... |
OMIM:617053 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Abnormal form of the vertebral bodies, Abnormal metaca... |
ORPHA:93262 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Dandy-Walker malformatio... |
OMIM:612938 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus |
ORPHA:83473 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Hydrocephalus, Abnormal form of the vertebral bodies, Hand polydactyly, Ga... |
ORPHA:475 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal wi... |
OMIM:224400 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Rod-cone dystrophy, Retinal thinning, Hyperautofluorescent retinal lesion |
OMIM:618955 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism, EEG abnormality, Macular ... |
OMIM:613792 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Short neck, Kyphosis, Hydr... |
ORPHA:7 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... |
ORPHA:250989 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Macrotia, Atresia of the external auditory canal, Semilobar holoprosen... |
OMIM:245552 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Micropenis... |
OMIM:617822 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Hydrolethalus |
|
Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abnormal fall... |
ORPHA:2189 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scrotum, Preaxial hand polydactyly... |
ORPHA:261344 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cherry red spot of the macula, Hydrocephalus, Optic atrophy, Yellow/whit... |
ORPHA:93400 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:218350 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Impaired distal proprioception, ... |
OMIM:157640 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Hydrocephalus... |
OMIM:618476 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Ambigu... |
OMIM:617895 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Hydrocephalus, Irregular menstruation, Tibial bowing,... |
OMIM:616482 |
Septooptic Dysplasia |
|
Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Absent thumb, Short neck, Hydrocephalus, Bilateral radial aplasia... |
OMIM:300514 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger... |
OMIM:616007 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Scoliosis, Acetabular ... |
OMIM:619833 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Cryptorchidism, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, ... |
ORPHA:404440 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge... |
OMIM:615630 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance, Foot polydactyly, Scoli... |
ORPHA:220493 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... |
OMIM:614091 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, 2-3 toe ... |
OMIM:264480 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Hand polydactyly, Hypogonadism |
ORPHA:2316 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal fi... |
ORPHA:1812 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Hydrocephalus, He... |
OMIM:220210 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Posteriorly rotated ears, Retinitis, Broad hallux, Cryptorchidism, Posta... |
OMIM:615948 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Postaxial polydactyly |
OMIM:615824 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar p... |
OMIM:109400 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Short me... |
OMIM:304120 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Arachnodactyly, Kyphosis, Hydrocephalus, Hydrocele testis, Scoliosis... |
ORPHA:314588 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Low-set ears, Short fi... |
OMIM:258860 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abnormal form of the vertebra... |
ORPHA:3042 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Ol... |
ORPHA:3016 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/... |
ORPHA:2710 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Scapular winging, Proximal muscle weakn... |
ORPHA:101085 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
Lead Poisoning |
|
Somatic sensory dysfunction, Decreased female libido, Abnormality of the menstrual cycle, Oligozo... |
ORPHA:330015 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Preaxial hand polydactyl... |
ORPHA:261318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus |
OMIM:613155 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, P... |
OMIM:302960 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Preaxial hand... |
ORPHA:887 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Ventriculomegaly, Cryptorchidism, Kyphosis, Hydrocepha... |
OMIM:609029 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Kyphosis, Hydrocephal... |
OMIM:300960 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... |
OMIM:611134 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Testicular atrophy, Hip dislocation |
OMIM:300322 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Choreoathetosis, Ambiguou... |
OMIM:614969 |
Edinburgh Malformation Syndrome |
|
Long fingers, Hydrocephalus, Slender finger, Ulnar deviation of finger |
ORPHA:1895 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... |
OMIM:169400 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance, Scoliosis |
ORPHA:220497 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Hand polydactyly, Foot polydactyly, Scoliosis |
ORPHA:2318 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Ventriculomegaly, Kyphoscoliosis, Cryptorchidism, Hydr... |
ORPHA:96170 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Brachydactyly, Optic disc hypoplasia, External ear malformation,... |
ORPHA:233 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Abn... |
OMIM:154400 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom... |
ORPHA:60040 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Aplastic ... |
ORPHA:2658 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Postaxial hand polydact... |
OMIM:612284 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... |
ORPHA:1908 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, H... |
OMIM:305450 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Camptodactyly, Dandy-Walker malformation |
OMIM:614846 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus |
ORPHA:1237 |
Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... |
OMIM:207410 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Abnormal tibia morphology, Split hand, Hydrocepha... |
ORPHA:1335 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplas... |
ORPHA:3412 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ... |
ORPHA:1834 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Wide anterior fontanel, Crypt... |
ORPHA:401973 |
Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Morning glory anomaly, Postaxial polydactyly, Hydrocepha... |
OMIM:614424 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Anterior pituitary hypoplasia, Crypto... |
ORPHA:464306 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... |
ORPHA:397715 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Ataxia, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF protein concentr... |
OMIM:272200 |
Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Hypopigmentation of the fundus, Finger syndactyly, Tapered finger... |
OMIM:200990 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Thoracolumbar kyph... |
OMIM:253220 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Ataxia, Communicating hydrocephalus |
ORPHA:1861 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Kyphosis, ... |
OMIM:620351 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Hydrocephal... |
OMIM:269860 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Ataxia, Ovarian neoplasm |
ORPHA:65285 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... |
OMIM:613686 |
Muenke Syndrome |
|
Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis |
ORPHA:53271 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnorm... |
ORPHA:53 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Protruding ear, ... |
OMIM:620072 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Hydrocephalus |
OMIM:300558 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Scoliosis, Da... |
OMIM:304340 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Absent radius, Short thumb, Parti... |
OMIM:149730 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Scoliosis, Radial dysplasia, Absent thumb |
OMIM:617244 |
Trisomy 17P |
|
Hypoplasia of penis, Short neck, Tapered finger, Hydrocephalus, Scoliosis, Clinodactyly of the 5t... |
ORPHA:261290 |
Aase-Smith Syndrome I |
|
Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation |
OMIM:147800 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Metaphyseal irregularity |
OMIM:269920 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Metaphyseal widening, Anterior atlanto-occipital dislocation, Arachnodactyly, Slender long bones ... |
ORPHA:536467 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Clubbing, Abnormal sperm motility, Ventricul... |
ORPHA:244 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Cryptorchidism, Large placenta, Wide anterior fontanel, Abnormal earlobe morphology... |
ORPHA:116 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Shoulder dislocation, Dislocated radial head, Rhizomelia, Spatulate thumbs, Scoliosis... |
OMIM:245600 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hydrocephalus, Scoliosis, Clinodactyly, Ventriculomegaly |
ORPHA:2169 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, H... |
ORPHA:235 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... |
OMIM:614219 |
Monosomy 18Q |
|
Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Bilateral crypto... |
ORPHA:1600 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Abnormal retinal vascul... |
ORPHA:909 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal fo... |
ORPHA:2050 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Genu va... |
OMIM:182212 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly |
ORPHA:2770 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involving the pe... |
ORPHA:3301 |
Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Postaxi... |
ORPHA:2886 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Micropenis, Brachydactyly |
OMIM:602361 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Tall lumbar vertebral bod... |
OMIM:102500 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Preaxial hand polydactyly, Microtia, Atresia of the external auditor... |
OMIM:610536 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Inability to walk, Cryptorchidism, Unsteady gait, Slender ... |
ORPHA:3063 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Abnormality of ... |
ORPHA:171929 |
Oeis Complex |
|
Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambi... |
OMIM:258040 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Hydrocephalus, Meningocele, Scoliosis, Bi... |
OMIM:130720 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, ... |
OMIM:619320 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Ventriculome... |
OMIM:613603 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, 2-4 finger synd... |
OMIM:107480 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Hemivertebrae, Scoliosis, C... |
OMIM:104350 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Spina bifida, Facial palsy, Abnormality of the hand, Preaxi... |
ORPHA:508498 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Central retinal vessel vascular tortuosity, Adactyl... |
ORPHA:2751 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Aplasia of the vagina, Aplasia... |
ORPHA:457284 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypospadi... |
ORPHA:268261 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Thoracic... |
OMIM:602535 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Ce... |
ORPHA:87 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Short neck, Ambiguous genitalia, female, Am... |
OMIM:249000 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy |
OMIM:616562 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Short neck, Hydrocephalus, Short 2nd toe, Hip dysplasia, Clinodact... |
OMIM:612582 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Kabuki Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Precocious puberty, Cryptorchidism, Hydroceph... |
ORPHA:2322 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Short neck, Hydrocephalus, Colpocephaly, Ventriculomegaly, Brachydactyly |
OMIM:620156 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Hypospadias, Bowing of the legs, Aplasia/Hypoplasia of the patella, Crypto... |
OMIM:617063 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... |
OMIM:227650 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... |
OMIM:253200 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Coccidioidomycosis |
|
Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal... |
ORPHA:228123 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... |
ORPHA:974 |
Cockayne Syndrome A |
|
Hip contracture, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:216400 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, E... |
ORPHA:2211 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Wa... |
ORPHA:899 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Overfolded helix, Posteriorly rotated ears |
ORPHA:52047 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth |
OMIM:617667 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, Annular pancreas, 2-3 toe syndactyly, Ir... |
OMIM:618162 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Postaxial hand polydactyly, Hydrocephalu... |
OMIM:608091 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... |
ORPHA:2462 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia... |
OMIM:227646 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Ventricul... |
ORPHA:370959 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Alexander Disease |
|
Ataxia, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Aqueductal stenosis, Hydrocephal... |
ORPHA:58 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Hypospadias, Short neck, Cryptorchidism, Hydrocephalus, Short st... |
OMIM:257300 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, True hermaphroditism, Pancreatic fibrosis, Pancreatic cy... |
ORPHA:564 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Vertebral compression fracture, Hydrocephalus, Scoliosis |
OMIM:112240 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Palmar pits, Kyphosis, Hydrocephalus, Abnormality of the vertebral c... |
ORPHA:77301 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Tenorio Syndrome |
|
Ventriculomegaly, Gait disturbance, Hydrocephalus, Scoliosis |
OMIM:616260 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Short neck, Long fingers, Hydrocephalus, Talipes equinovarus, Clin... |
ORPHA:3309 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... |
OMIM:607014 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Ventriculomegaly, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocati... |
OMIM:300968 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Camptodactyly, ... |
OMIM:247200 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Inability to walk, Enlarged metaphyses, Preaxial hand p... |
ORPHA:508533 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Thoracic scoliosis, Kyphoscoliosis, Metatarsus adductus, Inability to walk, Small... |
ORPHA:300570 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Macro... |
ORPHA:90321 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:225790 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Hydr... |
ORPHA:2166 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus |
ORPHA:207 |
H Syndrome |
|
Hallux valgus, Hydrocephalus, Azoospermia, Hypogonadism, Camptodactyly, Micropenis, Decreased tes... |
ORPHA:168569 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Retinal dystrophy, Joint contracture of the 5th finger, Postaxial polyda... |
OMIM:619562 |
Au-Kline Syndrome |
|
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Super... |
OMIM:616580 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Hypospadias, Single transverse palmar crease, Short neck, Long fingers, Cryptorchi... |
ORPHA:96121 |
Jacobsen Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, L... |
OMIM:147791 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:614576 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... |
ORPHA:573278 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypospadias, Single transverse palmar crease |
ORPHA:2409 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Narrow iliac wing, Hydrocephalus |
OMIM:616294 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... |
ORPHA:79330 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Palmoplantar keratoderma... |
ORPHA:1555 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Tapered finger, Cryptorchidism, Hydrocephalus, Radioulnar synostosis, Reduced... |
ORPHA:1272 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... |
ORPHA:314585 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Hydrocephalus, Scoliosis |
OMIM:612940 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Femur fracture, Hydrocephalus, Flared metaphysis, Coxa vara |
OMIM:259700 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe... |
OMIM:194190 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Postaxial hand polydactyly, Hydrocephalus, Gait disturbance, Sco... |
ORPHA:1454 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... |
ORPHA:63259 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... |
ORPHA:404448 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Hydrocephalus, Short toe, Athetosis, Delayed ossification of carpal bones, Short ... |
OMIM:239300 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly |
OMIM:219730 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Aplasia/Hypoplasia of the tib... |
ORPHA:2753 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... |
OMIM:270400 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... |
OMIM:600145 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... |
OMIM:305600 |
Pallister-Hall Syndrome |
|
Small scrotum, Hemivertebrae, Gonadotropin deficiency, Holoprosencephaly, Micropenis, Aplasia/hyp... |
ORPHA:672 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Short neck, Cryptorchidism, Hydrocephalus, Genu valgum, Deep palmar ... |
ORPHA:1340 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... |
ORPHA:666 |
Kinsship Syndrome |
|
Sacral dimple, Ventriculomegaly, Single transverse palmar crease, Coxa valga, Short neck, Hip dis... |
OMIM:619297 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Papillary cystade... |
OMIM:180849 |
Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tapered finger, ... |
OMIM:615873 |
Hurler Syndrome |
|
Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of the elbow, Spinal canal stenos... |
ORPHA:93473 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Vici Syndrome |
|
Abnormal posturing, Penile hypospadias, Abnormal thymus morphology |
OMIM:242840 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Split hand, Spinal canal stenosis, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:579 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Medulloblastoma |
|
Back pain, Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia ass... |
ORPHA:616 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ... |
ORPHA:459061 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ataxia, Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
Arachnoid Cyst |
|
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Inability to walk, Hydrocephalus, Gai... |
ORPHA:2356 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Scoliosis |
ORPHA:238769 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Short neck, Cryptorchidism, Hydrocephalus, Abnormal form of t... |
ORPHA:2162 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Arachnodactyly, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, S... |
OMIM:617011 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Overlapping toe, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Palmoplanta... |
OMIM:123790 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial... |
OMIM:605627 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Scoliosis |
OMIM:615249 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia |
ORPHA:381 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Ataxia, Hypospadias, Short hallux, Arachnodactyly, Cryptorchidism, Short... |
ORPHA:280 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... |
ORPHA:857 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus |
OMIM:614886 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Arachnodactyly, Camptodactyly of finger, Hypospadias, Metatarsus adduc... |
ORPHA:2461 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Dif... |
ORPHA:268810 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads |
OMIM:612863 |
Whipple Disease |
|
Hydrocephalus, Ataxia, Erectile dysfunction |
ORPHA:3452 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Hypospadias,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Hypospadias,... |
ORPHA:363958 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Aqueductal stenosis, Long fingers, Cryptorchidism, Hydrocephalus, Hyp... |
OMIM:619512 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Bilateral tali... |
OMIM:602398 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Crouzon Syndrome |
|
Hydrocephalus, Abnormality of the cervical spine, Dysgerminoma |
OMIM:123500 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Preaxial hand polydactyly, Abnormal pinna morphology, Low-set, pos... |
ORPHA:1297 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Brachydactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postax... |
ORPHA:2750 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Kyphosi... |
OMIM:617527 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Tapered finger, Cryptorchidism, Hydroceph... |
ORPHA:261337 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Hydrocephalus, Bilateral talipes equ... |
OMIM:614083 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Thoracolumbar kyphosis, Hydrocephalus, Osteopathia striata, Spina bifida occulta,... |
OMIM:300373 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Orofaciodigital Syndrome I |
|
Syndactyly, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Short 2nd toe, Ovarian cyst, Polyd... |
OMIM:311200 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Gait... |
ORPHA:457359 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Short... |
ORPHA:955 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Hydrocephalus, Split hand, Short neck |
OMIM:309900 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Abnormality of the parathyroid gland, Hydrocepha... |
ORPHA:2969 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Desmosterolosis |
|
Micromelia, Metatarsus adductus, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly |
ORPHA:35107 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the... |
OMIM:268300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Abnormal mitochondrial shape, Short femur, Hypospadias, Unsteady gait, Increased C... |
ORPHA:17 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Diaphyseal sclerosis, Genu valgum |
OMIM:259710 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Broad-based gait, Hydrocephalus, Limb ataxia, Azoospermia, Scoliosis, Thoracolumba... |
ORPHA:2072 |
Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Single transverse palmar crease, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... |
OMIM:309801 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
EEG abnormality, Polydactyly, Low-set ears |
ORPHA:314655 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing,... |
OMIM:618188 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Slender long bone, Hydrocephalus, Scoliosis |
OMIM:618590 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus |
OMIM:601389 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
Neurofibromatosis Type 1 |
|
Ataxia, Precocious puberty, Cryptorchidism, Kyphosis, Hydrocephalus, Genu valgum, Slender long bo... |
ORPHA:636 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... |
OMIM:261540 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis |
OMIM:253800 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus, Congenital hip dislocation, Pancreatic hy... |
ORPHA:1666 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Tapered finger |
ORPHA:2836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:613150 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Short hallux, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ta... |
OMIM:620305 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Short neck, Hydrocephalus, Neonatal death, Long hallux, Bra... |
OMIM:259775 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Single transverse palma... |
OMIM:607932 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hydrocephalus, Deep palmar crease, Scoliosis... |
OMIM:115150 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hydrocephalus, Broad thumb |
ORPHA:585 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pelvis bone oss... |
ORPHA:93271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... |
OMIM:236670 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... |
ORPHA:91350 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Gait disturbance, Ataxia, Ventriculomegaly |
ORPHA:395 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Short neck, Hypoglycorrhachia, Brachydactyly |
ORPHA:168577 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Mucopolysaccharidosis Type 3 |
|
Ataxia, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Abnormal form of the ... |
ORPHA:581 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hydrocephalus, Foot polydactyly, Short palm |
ORPHA:268249 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Inability to walk, Hydrocephalus, Lumbar kyphosis, Deep palmar ... |
ORPHA:505248 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vert... |
ORPHA:1780 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Single transverse palmar crease, Proximal placement of th... |
OMIM:113620 |
Tetrasomy 9P |
|
Absent gallbladder, Sacral dimple, Hypoplastic scapulae, Short neck, Cryptorchidism, Hydrocephalu... |
ORPHA:3310 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchid... |
OMIM:312870 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the posterior pit... |
ORPHA:2495 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Postaxial polydactyly, Colpocephaly, Scoliosis, Clinodactyly, Ventriculomegaly |
OMIM:618460 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Broad-based gait, Hypospadias, Single transverse palmar crease, Ataxia,... |
OMIM:619475 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Neurofibromatosis, Type I |
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Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Pheochromoc... |
OMIM:162200 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Hypospadias, Short neck, Hypoplastic ilia, Long fingers, Cr... |
OMIM:264090 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hallux valgus, Dilated fourth ventricle, Sacral dimple, Congenital hip dislocation, Overlapping t... |
ORPHA:480880 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Dural Sinus Malformation |
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Myelopathy, Hydrocephalus, Ataxia |
ORPHA:97339 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Arachnodactyly, Hypospadias, Spina bifida, Short neck, Cryptorchidism, Hydroc... |
ORPHA:567 |
Osteopetrosis, Autosomal Recessive 5 |
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Hydrocephalus, Flared metaphysis, Stillbirth, Hip subluxation, Ventriculomegaly |
OMIM:259720 |
Fontaine Progeroid Syndrome |
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Syndactyly, Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora... |
OMIM:612289 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb |
OMIM:614643 |
Legius Syndrome |
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Ovarian neoplasm, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenosis, Scoliosis, Cl... |
ORPHA:137605 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Inability to walk, Hip dysplasia, Ve... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Inability to walk, Hip dysplasia, Ve... |
ORPHA:352665 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Hypospa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Hypospa... |
ORPHA:353277 |
Fraser Syndrome 1 |
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Encephalocele, Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Hypospadias, Cryptorchidism... |
OMIM:219000 |
Kabuki Syndrome 1 |
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Congenital hip dislocation, Premature thelarche, Cryptorchidism, Hydrocephalus, Hip dysplasia, La... |
OMIM:147920 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Ventriculomegaly |
ORPHA:25 |
Craniopharyngioma |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Single... |
OMIM:619841 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly, Atresia of ... |
OMIM:301022 |
Cranioectodermal Dysplasia 3 |
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Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
Degcags Syndrome |
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Syndactyly, Sacral dimple, Toe syndactyly, Hypospadias, Ventriculomegaly, Short thumb, Preaxial h... |
OMIM:619488 |
Peters Plus Syndrome |
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Sacral dimple, Toe syndactyly, Rhizomelia, Hypospadias, Micromelia, Short neck, Cryptorchidism, S... |
ORPHA:709 |
Bloom Syndrome |
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Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia |
ORPHA:125 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Holoprosencephaly 14 |
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Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of the epiglottis, C... |
OMIM:617088 |
Neonatal Lupus Erythematosus |
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Hydrocephalus |
ORPHA:398124 |
Developmental And Epileptic Encephalopathy 49 |
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Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Neurocardiofaciodigital Syndrome |
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Optic disc pallor, Syndactyly, Polydactyly, Hearing impairment |
OMIM:619869 |
Loeys-Dietz Syndrome 1 |
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Arachnodactyly, Postaxial hand polydactyly, Hydrocephalus, Cervical spine instability, Talipes eq... |
OMIM:609192 |
Plasminogen Deficiency, Type I |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Loeys-Dietz Syndrome 2 |
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Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... |
OMIM:610168 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Genu valgum, Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Cranioectodermal Dysplasia 2 |
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Syndactyly, Rhizomelia, Short neck, Postaxial hand polydactyly, Polydactyly, Bile duct proliferat... |
OMIM:613610 |
Thoracoabdominal Syndrome |
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Anencephaly, Hydrocephalus, Hypospadias |
OMIM:313850 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Ataxia, Short neck, Genu valgum, Cortical thickening of long bone di... |
ORPHA:309282 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Sacral dimple, Hypospadias, Epispadias, Male pseudohermaphroditism, Hy... |
ORPHA:2556 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Metatarsus adductus, Cryptorch... |
OMIM:607872 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus |
OMIM:619377 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Radial deviation of finger, Cubitus ... |
OMIM:163950 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Communicating hydrocephalus |
ORPHA:2184 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Tetraamelia Syndrome 1 |
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Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Hypoplastic pelvis, A... |
OMIM:273395 |
Choanal Atresia |
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Polydactyly |
ORPHA:137914 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Coffin-Siris Syndrome 12 |
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Hypospadias, Short thumb, Slender finger, Cryptorchidism, Noncommunicating hydrocephalus, Cutaneo... |
OMIM:619325 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Ataxia |
ORPHA:220295 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Hydrocephalus, Ge... |
ORPHA:363700 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Alobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Inability to walk, Hydrocephalus, Hip disl... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Inability to walk, Hydrocephalus, Hip disl... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Hydrocephalus, Hip disl... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Inability to walk, Hydrocephalus, Hip disl... |
ORPHA:220386 |
Faciocardiomelic Syndrome |
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Slender long bone, Cuboid-shaped vertebral bodies, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... |
OMIM:306955 |
Cryptococcosis |
|
Hydrocephalus, Prostatitis |
ORPHA:1546 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Femur fracture, Lateral ventricle dilatation |
OMIM:612301 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia |
OMIM:616084 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Metaphyseal widening, Genu valgum, Primary hypothyroidism, D... |
OMIM:219800 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Ataxia |
ORPHA:79282 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Unsteady gait |
ORPHA:637 |
Okamoto Syndrome |
|
Hip dysplasia, Polydactyly, Scoliosis, Bifid uterus |
ORPHA:2729 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Hydrocephalus, Deep ... |
OMIM:218040 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Polycystic ovaries |
ORPHA:137675 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Abnormal morphology of female internal genitalia |
ORPHA:538 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal stenosis, Hydrocepha... |
OMIM:619534 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Bowing of the long ... |
ORPHA:667 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Gaucher Disease |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:355 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Pheochromocytoma, Sub... |
ORPHA:805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Partial duplication of thumb phalanx, Hydrocephalus, He... |
OMIM:164210 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |