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Gene: Ggt1 MGI:95706

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

gamma-glutamyltransferase 1

Synonyms:

CD224, GGT, Ggtp, dwg

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ggt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ggt1 (1 diseases)
Human diseases predicted to be associated with Ggt1 (1698 diseases)

The table below shows human diseases associated to Ggt1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Glutathionuria		Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950

The table below shows human diseases predicted to be associated to Ggt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body...	OMIM:184255
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Short stature, Sparse ...	ORPHA:243
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence...	ORPHA:432
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:163976
Satoyoshi Syndrome	Short stature, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Abnorm...	ORPHA:3130
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta...	OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Gurrieri Syndrome	Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast...	OMIM:601187
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Short stature, Shyness, Cryptorchidism, Increased ci...	ORPHA:163971
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f...	OMIM:609324
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov...	ORPHA:2232
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Short stature, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia...	ORPHA:247768
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga	OMIM:601370
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm...	ORPHA:99330
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon...	ORPHA:785
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,...	OMIM:602557
Galactokinase Deficiency	Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Catar...	ORPHA:79237
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Aminoaciduria, Premature ovarian insufficiency, Cataract	ORPHA:2278
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Cataract, Infertility	OMIM:300719
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchid...	ORPHA:110
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Ambiguo...	ORPHA:90791
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Osteopenia, Premature ovari...	ORPHA:2959
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Satoyoshi Syndrome	Short metacarpal, Brachydactyly, Short stature, Alopecia, Short metatarsal, Osteolytic defects of...	OMIM:600705
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, An...	OMIM:194072
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ...	OMIM:609993
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Seckel Syndrome 7	Severe short stature, Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hyp...	OMIM:614851
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
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
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop...	ORPHA:2746
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor...	OMIM:239500
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian...	ORPHA:3464
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Short thumb, Cataract	OMIM:274205
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
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
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa...	OMIM:609325
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Short stature, Elevated circulat...	OMIM:305400
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ...	ORPHA:465508
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Dysosteosclerosis	Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m...	ORPHA:1782
Spastic Paraparesis And Deafness	Cataract, Hypogonadism, Short stature	OMIM:312910
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency, Cataract	ORPHA:101006
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Flared metaphysis, Abnormal...	OMIM:224300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism, Short stature	ORPHA:2815
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte...	ORPHA:2916
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size	ORPHA:1875
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Avascular necrosis of...	OMIM:132400
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Short stature, Cry...	ORPHA:3085
Amed Syndrome, Digenic	Short stature, Adrenal hypoplasia, Hypoplasia of the uterus, Long thumb, Failure to thrive, Hyper...	OMIM:619151
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri...	ORPHA:3101
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology, Coxa vara, Abn...	ORPHA:1988
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert...	ORPHA:93315
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Hartnup Disorder	Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Neutral hyp...	OMIM:234500
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Ane Syndrome	Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:157954
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m...	ORPHA:99642
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility	OMIM:615703
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu...	OMIM:300604
Saccharopinuria	Citrullinuria, Histidinuria, Saccharopinuria, Spastic diplegia, Hyperlysinuria	OMIM:268700
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Micrognathia, Short ...	ORPHA:94068
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bone, Small epiph...	OMIM:620269
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali...	OMIM:201170
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature	OMIM:601076
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of...	ORPHA:2163
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
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ...	ORPHA:1802
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Hyperpigmentation of the skin, Inc...	OMIM:202010
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b...	ORPHA:56305
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr...	ORPHA:3000
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer...	ORPHA:56304
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Diaminopentanuria	Spasticity, Hyperlysinuria, Ataxia, Cystinuria	OMIM:222350
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Short statu...	ORPHA:177910
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte...	ORPHA:3027
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla...	ORPHA:3044
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Paronychia, Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentr...	OMIM:201100
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Gm1-Gangliosidosis, Type Ii	Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb...	OMIM:230600
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Corneal opacity, Cataract, Short stature, Tapered finger, Hypermelan...	ORPHA:317
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Oste...	OMIM:618625
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Cataract, Small for gestational age, Kyphosis, Hirsutism	ORPHA:85288
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level...	ORPHA:2410
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Myoclonus, Lethargy	OMIM:605899
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinuria, Ectopia lentis	OMIM:238700
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Reduced bone min...	ORPHA:168558
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly...	ORPHA:289548
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal st...	OMIM:101800
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplastic fifth toenail, Sparse scalp hair, Short stature, Decreased response to growth hormone...	OMIM:615866
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq...	OMIM:271630
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi...	OMIM:614613
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Microcornea, Premature graying of hair, Short palm, Sparse hair, Abse...	OMIM:268400
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Lumbar hyperlordosis, Bowing of the legs, ...	OMIM:100800
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Manganese Poisoning	Decreased female libido, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel...	ORPHA:306682
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Aminoaciduria, Abnormality of the vertebral column, Myoclonus...	OMIM:250620
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Cataract, Urinary incontinence, Kyphosis, Babinski sign, Spastic paraplegi...	OMIM:614409
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Micro...	ORPHA:628
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology...	ORPHA:166011
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Brachytelephalangic Chondrodysplasia Punctata	Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv...	ORPHA:79345
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Wide anterior fontanel, Abno...	ORPHA:1860
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Abnormal foot morphology, Hypopl...	OMIM:184252
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Bifid d...	OMIM:618419
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi...	OMIM:177170
Encephalopathy Due To Sulfite Oxidase Deficiency	Ataxia, Spastic tetraparesis, Ectopia lentis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity	ORPHA:833
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Short stature, Hypopigmentation of hair, Polycystic ovaries...	ORPHA:100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita...	ORPHA:90794
Wilson-Turner Syndrome	Cataract, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Small han...	ORPHA:3459
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow...	OMIM:608940
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:184250
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Babinski sign, Limb ataxia, Urinary urgency, Male sexual dysfuncti...	ORPHA:100999
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I...	ORPHA:206484
Galactose Epimerase Deficiency	Aminoaciduria, Cataract, Weight loss	ORPHA:79238
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98754
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cle...	OMIM:620076
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the ...	ORPHA:2578
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Incoordination, Homocystinuria, Gait disturbance	OMIM:236250
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br...	OMIM:615222
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Urinary incontine...	OMIM:300623
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Paraparesis, P...	ORPHA:43
Valinemia	Failure to thrive, Valinuria, Hyperkinetic movements	OMIM:277100
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemiparesis, Myoclonus, L...	OMIM:606777
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98793
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Acute Transverse Myelitis	Back pain, Urinary incontinence, Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyra...	ORPHA:139417
Spermatogenic Failure 17	Male infertility	OMIM:617214
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Perineural Cyst	Abnormal thoracic spine morphology, Low back pain, Dyspareunia, Recurrent urinary tract infection...	ORPHA:65250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:177904
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Leopard Syndrome 1	Hypospadias, Short stature, Cryptorchidism, Micropenis, Cafe-au-lait spot, Hypoplasia of the ovar...	OMIM:151100
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder	OMIM:204750
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:177901
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:98
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Failure to thrive	ORPHA:250994
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility...	ORPHA:397685
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive	OMIM:237400
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,...	OMIM:137920
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Short stature, Microcornea, Growth delay, Hypogonadism	ORPHA:2528
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Short stature, Cryptorchidism, Obesity, Hand po...	ORPHA:2377
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Ichthyosis, Split Hairs, And Amino Aciduria	Abnormal hair morphology, Aminoaciduria	OMIM:242550
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmenta...	OMIM:309801
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Hyperinsulinemia...	ORPHA:791
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Cataract, Unsteady gait, Secondary amenorrhea, Spasticity	OMIM:620312
Scorpion Envenomation	Restlessness, Hemifacial spasm, Ketonuria, Ataxia, Tremor, Hyperkinetic movements, Myoclonus, Gly...	ORPHA:466677
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy...	ORPHA:2495
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Sialidosis Type 1	Cataract, Ataxia, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Tremor, Kyph...	ORPHA:812
Autosomal Recessive Spastic Paraplegia Type 46	Lower limb spasticity, Broad-based gait, Cataract, Ataxia, Urinary incontinence, Babinski sign, A...	ORPHA:320391
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Ataxia, Ectopia lentis, Increased urinary sulfite level, Fine hair, Choreoathet...	OMIM:272300
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Abn...	ORPHA:391417
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia,...	OMIM:618820
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Osteomesopyknosis	Increased bone mineral density, Infertility	OMIM:166450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Martsolf Syndrome 2	Cataract, Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature,...	OMIM:619420
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait dis...	OMIM:617404
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Corneal dystrophy, Corneal opacity, Sparse eyebrow, Cryptorchidism, H...	ORPHA:495875
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Intrauterine gr...	OMIM:619321
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Albuminuria, Aminoacid...	OMIM:230400
Alg9-Cdg	Rhizomelia, Wide anterior fontanel, Flared metaphysis, Broad ischia, Low posterior hairline, Shor...	ORPHA:79328
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Spastic Paraplegia 26, Autosomal Recessive	Posterior capsular cataract, Decreased serum testosterone concentration	OMIM:609195
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Cataract, Cryptorchidism, Short thumb, Intrauterine growth retardation	ORPHA:2489
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Hypoglycemia, Os...	ORPHA:48431
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Broad hallux, Broad thumb	OMIM:272200
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Meckel Syndrome 12	Rocker bottom foot, Antecubital pterygium, Hypoplasia of the uterus, Intrauterine growth retardat...	OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri...	OMIM:617914
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impotence,...	OMIM:235200
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Achilles tendon contractur...	OMIM:252940
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Stimmler Syndrome	Aminoaciduria, Ataxia	ORPHA:3199
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck, Flared metap...	OMIM:616897
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metatarsal, Clitoral hypoplasia, Sparse hair, Short metacarpal, Rhizomelia, Con...	OMIM:614813
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	OMIM:176270
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Ataxia, Increased level of gamma-aminobuty...	OMIM:271980
Kennedy Disease	Gait disturbance, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Myotonic Dystrophy 2	Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo...	OMIM:602668
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder, Failure to thrive	OMIM:620007
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:300845
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies	OMIM:230500
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho...	OMIM:251230
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Short stature, Insulin-resistant diabetes mellitus, Secondary ame...	OMIM:268020
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Sickle Cell Disease	Hematuria, Renal insufficiency, Priapism	OMIM:603903
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, External genital hypoplasia, Short stature, Tapered finger, ...	ORPHA:1867
Galactosemia Iii	Failure to thrive, Aminoaciduria, Galactosuria	OMIM:230350
Homocarnosinosis	Spastic paraplegia, Carnosinuria	OMIM:236130
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Tibial Hemimelia	Absent tibia	OMIM:275220
Adrenoleukodystrophy	Alopecia, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, ...	OMIM:300100
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	ORPHA:739
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Shox-Related Short Stature	Micrognathia, Short neck, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb...	ORPHA:314795
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Short stature, Camptodactyly of finger, Hypogonadi...	ORPHA:1466
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Chorea, Methylmalonic aciduria, Choreoathetosis, Athetosis, Failure to thrive, Homocystinuria	OMIM:309541
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Diabetes mellitus, Short stature, Trichiasis, Nuclear cataract, Nail dysplasia, C...	OMIM:601701
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Osteoporosis, Coxa vara, Nuclear cataract, Short femoral neck...	ORPHA:2848
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Micromelia, Micrognathia, ...	OMIM:613848
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, S...	OMIM:601559
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cataract, Short stature, Tapered finger, Cryptorchidism, Shor...	ORPHA:127
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Cataract, Small for gestational age, Kyphosis, Decreased body weight	OMIM:618392
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,...	ORPHA:2639
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cataract, Cachexia, Seve...	ORPHA:3242
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par...	OMIM:176200
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia...	OMIM:238970
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Knee dislocation...	OMIM:618395
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
Threoninemia	Hyperthreoninuria	OMIM:273770
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Gapo Syndrome	Keratoconus, Alopecia, Short stature, Dysmenorrhea, Sparse eyelashes, Sparse eyebrow, Early baldi...	ORPHA:2067
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Urinary incontinence, Babinski sign, Limb ataxia, Urinary urgency,...	ORPHA:100993
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
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen...	OMIM:308050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Short stat...	ORPHA:1387
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Increased bone mineral density...	ORPHA:902
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Cataract, Osteoporosis, Increased bone density with cys...	OMIM:136300
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Bradykinesia, ...	OMIM:617435
Spinocerebellar Ataxia Type 42	Resting tremor, Urinary incontinence, Upper limb postural tremor, Babinski sign, Unsteady gait, D...	ORPHA:458803
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias, Short stature	ORPHA:1355
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Ataxia, Spastic tetraparesis, Intention tremor	OMIM:266130
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ...	ORPHA:786
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Ruijs-Aalfs Syndrome	Cataract, Short stature, Down-sloping shoulders, Posterior subcapsular cataract, Osteoporosis, Pr...	OMIM:616200
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Irregul...	OMIM:313400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting h...	ORPHA:769
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria	OMIM:606528
Lead Poisoning	Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h...	ORPHA:330015
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithelial mottling, Post...	OMIM:617547
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Short stature, Cryptorchidism, Wide anterior fontanel, Punctate catarac...	OMIM:607812
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res...	ORPHA:273
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	ORPHA:280679
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin...	ORPHA:71526
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Carnosinemia	Carnosinuria	OMIM:212200
Robinow Syndrome	Decreased serum testosterone concentration, Syndactyly, Small scrotum, Small for gestational age,...	ORPHA:97360
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,...	OMIM:601186
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Short stature, Split hand, Primary...	OMIM:604168
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Gait disturbance, Scoli...	ORPHA:2429
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Saccharopinuria	Citrullinuria, Tremor, Spastic diplegia, Cystinuria, Gait ataxia, Hyperlysinuria	ORPHA:3124
Adult Krabbe Disease	Broad-based gait, Ataxia, Urinary incontinence, Progressive spastic paraparesis, Hoffmann sign, B...	ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Choreoathetosis, Male hypogonadism, Juvenile cataract, Ataxia, Parkinsonism, ...	OMIM:300055
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Spinocerebellar Ataxia Type 8	Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic dysarthr...	ORPHA:98760
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Peters anomaly, Shor...	OMIM:261540
Cornelia De Lange Syndrome 5	Toe syndactyly, Short stature, Proximal placement of thumb, Highly arched eyebrow, Postnatal grow...	OMIM:300882
Myotonic Dystrophy 1	Cataract, Frontal balding, Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary ...	OMIM:610628
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism	ORPHA:363741
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Attrv30M Amyloidosis	Nephropathy, Impotence, Abnormal renal physiology, Weight loss	ORPHA:85447
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Peters Plus Syndrome	Microcornea, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifida occulta, Iris colo...	ORPHA:709
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva...	OMIM:618384
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Kyphosis, Scoliosis, Bruxism, Hirsutism	OMIM:300434
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper...	ORPHA:2298
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism	ORPHA:2786
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Baralle-Macken Syndrome	Cataract, Urinary incontinence, Kyphosis, Inability to walk, Obesity, Spasticity, Hirsutism	OMIM:619255
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Difficulty walking, Paralysis	OMIM:613710
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Scoliosis, Paralysis	OMIM:605285
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasi...	ORPHA:398069
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Bruxism, Gait disturbance, Inappropriate laughter, Difficulty walking, Scoli...	ORPHA:505652
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Hypertryptophanemia	Hypersexuality, Aggressive behavior, Tryptophanuria	OMIM:600627
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Cataract, Hypoglycemia, Cryptorchidism, Cone-shaped epiphyses of the distal phala...	OMIM:618958
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Insulin res...	ORPHA:73272
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Slender long bone, Increased serum testosterone level, Intrauterine growth reta...	ORPHA:96181
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Wagr Syndrome	Cataract, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Ambiguous genit...	ORPHA:893
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunc...	ORPHA:213
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Obesity, Scoliosis, Loss of amb...	OMIM:618124
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of...	OMIM:264180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Hyperactivity, Parkinsonism, Kyphoscolio...	ORPHA:3077
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Cataract, Rhizomelia, Disproportionate short stature, Epiphyseal stipp...	OMIM:222765
Atypical Rett Syndrome	Restrictive behavior, Involuntary movements, Tremor, Kyphosis, Inability to walk, Tongue thrustin...	ORPHA:3095
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic aciduria, Hypertonia, Hyperkinetic movements, Gait disturbance, Lethargy, Failure t...	OMIM:236270
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypoplastic fingernail, Hypospadias, Dysmenorrhea, Small for gestation...	ORPHA:397590
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L...	ORPHA:79477
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generalized hirsutism	ORPHA:1933
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Cataract, Limited mobility of proximal interphalangeal joi...	OMIM:222300
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Kyphosis, Crypto...	ORPHA:352490
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea	OMIM:233300
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Chorea, Inability to walk, Abnormal py...	ORPHA:500180
Filippi Syndrome	2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation, Cutaneous syndactyly, Finger cl...	OMIM:272440
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Overlapping toe, Wide anterior fontanel,...	ORPHA:798
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Phenylketonuria	Aminoaciduria	ORPHA:716
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Anorexia, Lacticaciduria, Aminoaciduria, Lethargy	OMIM:619386
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Lethargy, Hyperlysinuria	OMIM:238750
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Cryptorchidism, Abnormality of neuronal migration, Decreased calva...	ORPHA:2772
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Scoliosis, Loss of ambulation, Failure to th...	OMIM:619518
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Mevalonic Aciduria	Cataract, Failure to thrive in infancy, Short stature, Nuclear cataract, Failure to thrive	OMIM:610377
Cortisone Reductase Deficiency 1	Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides	OMIM:250900
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short stature, Short toe, Osteoporosis, Pseudohypoparathyroidism, Obe...	OMIM:103580
Phenylketonuria	Hyperactivity, Cataract, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvi...	OMIM:261600
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, ...	OMIM:209900
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S...	OMIM:615290
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis...	ORPHA:528
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short stature, Elevated circulating thyroid-stimulating hormone conce...	OMIM:612462
Glutathionuria	Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachex...	ORPHA:217346
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpigmentati...	ORPHA:90790
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Renal agenesis, Tremor, ...	ORPHA:478
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Long eyelashes, Hypogonadism, Failure to thrive	ORPHA:163693
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Babinski sign, Impotence, Pseudobulbar paralysis, Spasticity, Autonomic erectile dysfunction	OMIM:169500
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Short stature, Epiphyseal stippling, Hypogonadism, Short distal phalanx of finger	OMIM:302950
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevated circulating follic...	OMIM:619938
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Ataxia	ORPHA:33574
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Cataract, Hypogonadism, Obesity	OMIM:601794
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, ...	OMIM:613581
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Retinitis Pigmentosa 37	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ...	ORPHA:1381
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Xeroderma Pigmentosum, Complementation Group G	Cataract, Ataxia, Small for gestational age, Tremor, Spasticity	OMIM:278780
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hypoplastic toenails, Delayed early-childhood social milestone development, Reduced b...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Hypoplastic toenails, Delayed early-childhood social milestone development, Reduced b...	ORPHA:99228
Monosomy X	Osteopenia, Hypoplastic toenails, Delayed early-childhood social milestone development, Reduced b...	ORPHA:99226
Turner Syndrome	Osteopenia, Hypoplastic toenails, Delayed early-childhood social milestone development, Reduced b...	ORPHA:881
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Failure to thrive, Cataract, Ataxia, Clonus, Rigidity, Babinski sign, Unst...	OMIM:614877
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt...	OMIM:614732
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Winchester Syndrome	Kyphosis, Corneal opacity, Hirsutism	OMIM:277950
Horner Syndrome, Congenital	Heterochromia iridis, Paralysis	OMIM:143000
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati...	ORPHA:3156
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Sand...	ORPHA:813
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla...	OMIM:266810
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Argininemia	Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia	ORPHA:90
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints	OMIM:182940
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Poor coordination, Homocystinuria, Gait disturbance	OMIM:250940
Adrenomyeloneuropathy	Back pain, Urinary incontinence, Frontal balding, Progressive spastic paraparesis, Babinski sign,...	ORPHA:139399
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Bilateral cryptorchidism, 2-3 toe syndactyly, Abnormal...	OMIM:618156
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, ...	OMIM:300232
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hyperto...	OMIM:614898
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Cataract, Hypergonadotropic hypogonadism	OMIM:614307
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Gracile Syndrome	Aminoaciduria	OMIM:603358
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pri...	OMIM:604367
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Inability to walk, Aminoaciduria, Loss of ability to walk in early childhood	OMIM:609560
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Scoliosis	ORPHA:640
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Impotence, Hypogonadism	ORPHA:79230
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small for gestational age, Short stature, Postnatal growth...	OMIM:616489
Cerebrooculofacioskeletal Syndrome 1	Cataract, Small for gestational age, Rocker bottom foot, Coxa valga, Cryptorchidism, Insulin resi...	OMIM:214150
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver...	ORPHA:1427
Moyamoya Disease 6 With Or Without Achalasia	Hemiparesis, Impotence, Dysphagia	OMIM:615750
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis	ORPHA:212
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Small han...	ORPHA:254531
Leber Congenital Amaurosis 1	Keratoconus, Hyperthreoninuria, Cataract, Eye poking	OMIM:204000
Foix-Alajouanine Syndrome	Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Progressive spastic parapares...	ORPHA:79093
Sarcosinemia	Hypersarcosinuria, Ataxia, Tetraparesis	ORPHA:3129
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, ...	ORPHA:2828
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i...	ORPHA:2965
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Hypertonia, Failure...	OMIM:604273
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Methylm...	OMIM:612073
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis	OMIM:617087
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Spastic tetraparesis, Hyper...	OMIM:605711
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Gyrate Atrophy Of Choroid And Retina	Abnormal hair morphology, Aminoaciduria, Cataract, Subcapsular cataract	ORPHA:414
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis, Hyperlordosis	OMIM:614198
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh...	OMIM:618187
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Marinesco-Sjögren Syndrome	Short palm, Cataract, Severe short stature, External genital hypoplasia, Coxa valga, Avascular ne...	ORPHA:559
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Gm1-Gangliosidosis, Type Iii	Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae,...	OMIM:230650
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Cataract, Postural tremor, Urinary incontinence, Babinski sign, Spastic pa...	OMIM:270800
Hemochromatosis, Type 4	Impotence, Cataract	OMIM:606069
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Kyphosis, Cryptorchidism, Self-injurious behavior, Skin-picking	OMIM:618512
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn...	ORPHA:1359
Ulnar-Mammary Syndrome	Hypoplasia of penis, Hypoplastic toenails, Abnormal finger morphology, Abnormality of the uterus,...	ORPHA:3138
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Warburg Micro Syndrome 3	Small scrotum, Cataract, Postnatal growth retardation, Hypoplastic labia minora, Low anterior hai...	OMIM:614222
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Testicu...	OMIM:601163
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Small pituitary gland,...	OMIM:614880
Bloom Syndrome	Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ...	ORPHA:125
Bone Marrow Failure Syndrome 5	Short stature, Reticular hyperpigmentation, Growth delay, Hypogonadism, Nail dystrophy, Testicula...	OMIM:618165
Donohue Syndrome	Hypermelanotic macule, Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulin...	OMIM:246200
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fractured rib	OMIM:618188
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Obesity, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cer...	OMIM:301900
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Impotence, Ga...	ORPHA:93256
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlord...	ORPHA:2839
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Metatarsus adductus, Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Aminoaci...	OMIM:214110
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Short Stature-Micrognathia Syndrome	Small scrotum, Cataract, Short stature, Broad femoral neck, Bowing of the legs, Coxa valga, Crypt...	OMIM:617164
Larsen Syndrome	Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Talipes equinovalgus, Ac...	OMIM:150250
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nuclear catarac...	ORPHA:1010
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Hypertrichosis	ORPHA:85317
Multiple System Atrophy, Cerebellar Type	Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal...	ORPHA:227510
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Dysphagia, Scoliosis, Spinal rigidity	OMIM:618323
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Cataract, ...	OMIM:610756
Gorlin Syndrome	Cataract, Arachnodactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Melanocytic nevus, Iris ...	ORPHA:377
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cataract, Dec...	OMIM:240300
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradyk...	OMIM:146500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Unsteady gait, Obes...	ORPHA:464282
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Lipoyltransferase 1 Deficiency	Spastic tetraparesis, Lacticaciduria, Alaninuria, Abnormality of extrapyramidal motor function, H...	OMIM:616299
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Micropenis, Cataract, Childhood-onset truncal obesity	OMIM:610156
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu...	ORPHA:436271
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Limb-Mammary Syndrome	Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Chronic irritative conjunctivitis, Freckling...	ORPHA:69085
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Hypopigmented skin patches, Perin...	ORPHA:199310
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet...	ORPHA:35173
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Cataract, Postnatal growth retardation, Cryptorchidism, Low anter...	OMIM:614225
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Elevated circulating creatinine concentration, Olig...	ORPHA:85450
4H Leukodystrophy	Cataract, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to...	ORPHA:289494
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Cryptorchidism, Postaxial...	ORPHA:139471
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Dermotrichic Syndrome	Aminoaciduria, Abnormal vertebral morphology, Nail dystrophy	ORPHA:99688
Marinesco-Sjogren Syndrome	Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, Developmental catarac...	OMIM:248800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Kyphoscoliosis, Ectopia lentis, Methioninuria, Lens subluxation, Scoliosis, Biconca...	OMIM:236200
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Renal insufficiency, Dysuria, Anorexia, Elevated circulating creatinine concentrat...	ORPHA:49041
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Multiple System Atrophy	Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, G...	ORPHA:102
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cryptorchidism, Aminoaciduria, Ataxia	OMIM:249270
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipares...	OMIM:105210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Postural tremor, Babinski sign, Vocal cord paralysis, Inability to walk by childho...	ORPHA:99947
Argininosuccinic Aciduria	Abnormal hair quantity, Ataxia, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa	ORPHA:23
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Aminoaciduria, Hypogonadism, Hypoplastic nipples	OMIM:273400
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Cataract, Shoulder flexion...	OMIM:255800
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ...	ORPHA:3437
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Lethal Congenital Contracture Syndrome 7	Oral-pharyngeal dysphagia, Paralysis	OMIM:616286
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Spondylometaphyseal Dysplasia, Axial	Short stature, Rhizomelia, Proximal femoral metaphyseal irregularity, Disproportionate short-trun...	OMIM:602271
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Premature ovarian insufficiency, Cataract, Abnormality of the thyroid gland, H...	OMIM:609286
Ck Syndrome	Hyperactivity, Aggressive behavior, Hyperlordosis, Kyphosis, Scoliosis, Slender build	OMIM:300831
Hemochromatosis, Type 3	Impotence, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:604250
Zellweger Syndrome	Posterior embryotoxon, Cataract, Hypospadias, Corneal opacity, Short stature, Brushfield spots, C...	ORPHA:912
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Short Syndrome	Enlarged epiphyses, Rieger anomaly, Cataract, Small for gestational age, Insulin-resistant diabet...	OMIM:269880
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Hypoglycemia, Postna...	OMIM:616113
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis	ORPHA:99014
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Hyperlysinuria, Spasticity, Failure...	OMIM:616034
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Kyphosis, Hypert...	OMIM:615834
7Q11.23 Microduplication Syndrome	Hypospadias, Short stature, Craniosynostosis, Cryptorchidism, Long fingers, Sparse anterior scalp...	ORPHA:96121
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Kyphosis, Cryptorchidism, Inability to walk, Obesity, ...	OMIM:615547
Werner Syndrome	Cataract, Diabetes mellitus, Short stature, Osteoporosis, Reduced bone mineral density, Hypogonad...	OMIM:277700
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od...	OMIM:253000
Obesity And Hypopigmentation	Red hair, Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Kyphosis, Failure to thrive, Clonus	ORPHA:319199
Chromosome 17Q12 Deletion Syndrome	Long toe, Short stature, Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism,...	OMIM:614527
Harrod Syndrome	Cataract, Arachnodactyly, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Abnormal shoul...	ORPHA:2115
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Polyphagia, Nephrolithiasis, Cystinuria, Long eyelashes, Failure ...	OMIM:606407
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Short stature, Cryptorchidism...	ORPHA:2510
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Spastic tetraparesis, Lens luxation, Ectopia lentis, Absent urinary uro...	OMIM:252150
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Cataract, Sparse eyebr...	OMIM:617988
Leigh Syndrome	Chorea, Choreoathetosis, Complex organic aciduria, Frontal hirsutism, Alopecia, Ataxia, Renal tub...	ORPHA:506
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, A...	OMIM:300354
Wolf-Hirschhorn Syndrome	Hyperconvex fingernails, Intrauterine growth retardation, Iris coloboma, Hypospadias, Pseudoepiph...	OMIM:194190
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Short neck, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Short tibia, Smal...	ORPHA:96334
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Trichothiodystrophy 3, Photosensitive	Cataract, Short stature, Brittle hair, Bilateral cryptorchidism, Developmental cataract, Intraute...	OMIM:616395
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Arachnodactyly, Hypospadias, Short stature, Abnormality of ha...	ORPHA:96169
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Short toe, Genu valgum, H...	OMIM:616145
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Kyphosis, Cryptorchidism, Low posterior hairline, Premature graying of ha...	ORPHA:2617
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor...	OMIM:307800
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, G...	ORPHA:98933
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism	OMIM:300861
Martsolf Syndrome 1	Short metacarpal, Cataract, Hypogonadotropic hypogonadism, Short stature, Metatarsus adductus, Cr...	OMIM:212720
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Methylmalonic aciduria, Elevated urinary aminoi...	OMIM:614105
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, ...	ORPHA:2930
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ...	ORPHA:2221
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Unst...	ORPHA:79101
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatis...	OMIM:615761
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ...	OMIM:206920
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Growth delay, Nuclear cataract, Cataract, Short stature	OMIM:608885
Trichothiodystrophy 1, Photosensitive	Cataract, Small for gestational age, Short stature, Brittle hair, Trichoschisis, Fine hair, Micro...	OMIM:601675
3-Methylglutaconic Aciduria, Type Viib	Cataract, Rhizomelia, Growth delay, Intrauterine growth retardation, Zonular cataract, Neonatal h...	OMIM:616271
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dysphagia, Paralysis	OMIM:300857
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Cryptorchidism, Kyphosis, Inability to walk, Scoliosis, Difficulty walking	OMIM:611890
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Cryptorchidism, Hip dysplasia, Delayed puberty	ORPHA:496790
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Low anterior hairline, Long eyelashes, Facial hypertrichosis, Th...	OMIM:618658
D-Glyceric Aciduria	Tongue thrusting, Spastic tetraplegia, Opisthotonus, Micropenis, Aminoaciduria, Myoclonus, Spasti...	OMIM:220120
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin...	ORPHA:79085
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo...	ORPHA:3411
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Cachexia, Kyphosis, Scoliosis	ORPHA:2047
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se...	OMIM:157640
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Postaxial polydactyly, Postaxial h...	OMIM:615986
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Cataract, Short stature, Cryptorchidism, Hip dislocation, Corneal arc...	OMIM:219150
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea	ORPHA:2795
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femo...	OMIM:210710
Prune Belly Syndrome	Congenital hip dislocation, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Failu...	ORPHA:2970
Whipple Disease	Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction, Polydipsia	ORPHA:3452
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Cataract, Small for gestational age, Hypospadias, Metatarsus adduct...	OMIM:123450
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Hypospadias, Overlapping toe, Short stature, Sparse eyelashes, Postnatal growth re...	OMIM:613026
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Hyperlysinemia	Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuri...	ORPHA:2203
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, Kyp...	ORPHA:3455
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Melanocytic nevus, Oligozoospermia	OMIM:314300
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse...	ORPHA:955
Trisomy 13	Cataract, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Aplasia/Hypopl...	ORPHA:3378
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Cryptorchidism, Short thumb, Polymicrogyria, Low posterior hai...	OMIM:244300
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Slender long ...	OMIM:259420
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short stature, Short metatarsal, Osteoporosis, Pseudohypoparathyroidi...	OMIM:612463
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Cataract, Short stature, Cryptorchidism, Clinodactyly, Insulin resistance, Sim...	OMIM:616541
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Dent Disease	Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Juvenile Nephropathic Cystinosis	Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Elevated circulating...	ORPHA:411634
Dyskeratosis Congenita	White hair, Premature graying of hair, Sparse hair, Intrauterine growth retardation, Alopecia, Sh...	ORPHA:1775
Tryptophanuria With Dwarfism	Conjunctival telangiectasia, Ataxia, Gait disturbance, Tryptophanuria	OMIM:276100
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post...	ORPHA:93325
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume...	OMIM:164745
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Proteinuria	OMIM:603585
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, Hyperkinetic...	OMIM:620089
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the od...	OMIM:253010
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Sparse hair, Juvenile cataract, Short phalanx of finger, Hypothy...	ORPHA:221008
Hypomelanosis Of Ito	Alopecia, Cataract, Kyphosis, Scoliosis, Iris coloboma	OMIM:300337
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair, Abnormal morphology of female inte...	ORPHA:1839
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec...	ORPHA:293978
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Ren...	OMIM:220110
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Fa...	OMIM:613404
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Spastic tetraplegia	OMIM:618237
Dystonia-Deafness Syndrome 1	Cataract, Small for gestational age, Kyphoscoliosis, Pseudobulbar paralysis, Dysphagia, Loss of a...	OMIM:607371
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:90695
Argininosuccinic Aciduria	Dry hair, Brittle hair, Ataxia, Failure to thrive, Aminoaciduria, Lethargy, Oroticaciduria, Trich...	OMIM:207900
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Highly arched eyebrow	OMIM:609384
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis	ORPHA:276630
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Low ant...	ORPHA:261222
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, Cholelithiasis	ORPHA:79095
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Cryptorchidism, Astigmatism, Frontal upsweep of hair, Scoliosis, Hydronephrosis	OMIM:619797
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Short stature, Abnormal thum...	ORPHA:2719
Autosomal Recessive Spastic Paraplegia Type 5A	Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Limb ataxia, Dysphagia, Ankle...	ORPHA:100986
Donnai-Barrow Syndrome	Wide anterior fontanel, Widow's peak, Bicornuate uterus, Abnormality of the uterus, Iris coloboma	ORPHA:2143
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Cerebral palsy, Ketonuria, Hyperglycinuria, Opisthotonus, Organic aciduria, Lethargy, F...	OMIM:210210
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi...	ORPHA:91347
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cataract	OMIM:613730
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla...	OMIM:276820
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy	OMIM:613987
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis...	ORPHA:672
Sjögren-Larsson Syndrome	Kyphosis, Corneal erosion, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract, Osteoporosis	OMIM:601811
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:18
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Hyperactivity, Abnormal hair pattern, Short neck, Tremor, ...	ORPHA:85293
Myasthenic Syndrome, Congenital, 22	Waddling gait, Cystinuria	OMIM:616224
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Sialidosis Type 2	Ataxia, Corneal opacity, Tremor, Kyphosis, Nephropathy	ORPHA:87876
Cln3 Disease	Pigmentary retinopathy, Cataract, Hirsutism, Increased circulating androgen concentration	ORPHA:228346
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmentation, Abnorm...	ORPHA:84
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Bloom Syndrome	Syndactyly, Small for gestational age, Decreased fertility in females, Postnatal growth retardati...	OMIM:210900
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Short stature, Patchy osteosclerosis, P...	ORPHA:2323
Peroxisome Biogenesis Disorder 1A (Zellweger)	Failure to thrive, Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Unsteady gait, Aminoa...	OMIM:214100
Mcdonough Syndrome	Cachexia, Kyphosis, Synophrys, Cryptorchidism, Scoliosis	ORPHA:2471
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Kyphosis, Cryptorchidism, Bicarbonat...	OMIM:309000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Sandhoff Disease	Exaggerated startle response, Ataxia, Urinary incontinence, Impotence, Fasciculations, Spasticity...	OMIM:268800
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobul...	OMIM:616586
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cataract, Cryptorchidism, Developmental glaucoma, Osteoporosis, Hip dislocation, Fine...	OMIM:614438
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Impotence, Oligomenorrhea	ORPHA:91354
Triploidy	Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitali...	ORPHA:3376
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Clonus, Sclerocornea, Cataract, Ectopia lentis, ...	ORPHA:649
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Kyphosis, Tibial b...	OMIM:610915
Cowden Syndrome 6	Hyperthyroidism, Cataract, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr...	OMIM:615109
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Lethargy, Failure to thrive, Homocystinuria	OMIM:614857
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Cowden Syndrome 5	Hyperthyroidism, Cataract, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr...	OMIM:615108
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, External ge...	ORPHA:177907
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Wide...	OMIM:619135
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Cataract, Short stature, Cryptorchidism, Hypothyroidism	ORPHA:85321
Coffin-Siris Syndrome 1	Dry hair, Prominent interphalangeal joints, Clinodactyly of the 5th finger, Prominent fingertip p...	OMIM:135900
Kleefstra Syndrome 2	Self-injurious behavior, Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Gangliocytoma	Decreased female libido, Impotence, Scoliosis, Polyphagia, Amenorrhea	ORPHA:251937
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Short neck, Talipes equinovarus, Broad distal pha...	OMIM:300990
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Mydriasis	ORPHA:230800
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi...	ORPHA:634
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Short stature, Hyperm...	ORPHA:910
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis	OMIM:618484
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Choreoathetosis, Abnormality of the uri...	ORPHA:702
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Cataract, Hypospadias, Exter...	ORPHA:2588
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Tip-toe...	OMIM:607155
Wagro Syndrome	Cataract, Corneal opacity, Obesity, Impaired social interactions, Aniridia, Hypoplastic female ex...	OMIM:612469
Neu-Laxova Syndrome	Osteopenia, Cataract, Osteomalacia, External genital hypoplasia, Abnormal cortical gyration, Abno...	ORPHA:2671
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense...	OMIM:214500
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Cryptorchidism, Developmental cataract, Conjunctivitis, ...	ORPHA:90322
Cerebellofaciodental Syndrome	Cataract, Short stature, Tapered finger, Sparse eyebrow, Cryptorchidism, Shortening of all distal...	OMIM:616202
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Spastic tetraplegia, Aminoaciduria, Myoclonus, Scoliosis, Fail...	OMIM:619055
Argininemia	Hyperactivity, Anorexia, Progressive spastic quadriplegia, Diaminoaciduria, Spastic paraparesis, ...	OMIM:207800
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Poems Syndrome	Leukonychia, Weight loss, Hypogonadism, Erectile dysfunction, Sclerotic vertebral endplates, Hype...	ORPHA:2905
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid ...	OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Dysphagia, Tip-toe gait, Scoliosis, Difficulty walking...	OMIM:606612
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babinski sign, Dysmetria, Clumsine...	ORPHA:88644
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,...	ORPHA:97349
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Hyperlordosis, Tremor, Kyphosis, Inability to walk, Babinski sign, Blepharospasm, Hy...	OMIM:128100
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Oculocerebrorenal Syndrome Of Lowe	Clonus, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Lentiglob...	ORPHA:534
Alg6-Cdg	Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu...	ORPHA:79320
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme...	OMIM:618541
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Cataract, Abnormal fingernail morphology, Prim...	ORPHA:3453
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Absen...	OMIM:227650
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Lens luxation, Ectopia lentis, Increased urinary sulfite level, Xanthin...	OMIM:252160
8Q24.3 Microdeletion Syndrome	Long toe, Microretrognathia, Pes planus, Congenital hip dislocation, Short femur, Rocker bottom f...	ORPHA:508488
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptorchidism, Hypogo...	ORPHA:500055
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po...	ORPHA:2969
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Aminoaciduria, Ketonuria, Large for gestational age	OMIM:614520
Chromosome Xp11.3 Deletion Syndrome	Cataract, Short stature, Cryptorchidism, Posterior subcapsular cataract, Pigmentary retinopathy	OMIM:300578
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Severe short stature, Cryptorchidism, Short long bone, Dispro...	OMIM:224410
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Pes planus, Bowed humerus, Tarsal syno...	OMIM:272460
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Tremor, Cystathioninuria, Hemolytic-uremic syndrome, Methylmalo...	OMIM:277400
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi...	OMIM:231070
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Juvenile Sialidosis Type 2	Lower limb spasticity, Cataract, Ataxia, Corneal opacity, Abnormality of the kidney, Dysmetria, A...	ORPHA:93399
Cowden Syndrome 1	Hyperthyroidism, Cataract, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroi...	OMIM:158350
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Spastic tetraplegia	OMIM:615330
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco...	OMIM:616026
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Synophrys, Self-injurious behavior, Long eyelashes, Scoliosis, Abno...	ORPHA:238750
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Alopecia, Hypospadias, Short stat...	OMIM:264090
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular...	OMIM:208085
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Decreased testicu...	OMIM:615433
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypopigmentation of the skin, Iris hyp...	ORPHA:411515
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Hirsutism, Hypertri...	OMIM:616455
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
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Srd5A3-Cdg	Cataract, Ataxia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Hypertrichosis	ORPHA:324737
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Short stature, Dysmenorrhea, Ketotic hypoglycemia, Postnatal growth retardation, Irregular menstr...	ORPHA:79240
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Short stature, Cryptorchidism, Microcornea, Micropenis	OMIM:610125
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small nail, Ambiguous genita...	OMIM:610644
Foodborne Botulism	Cerebral palsy, Paralysis, Diaphragmatic paralysis, Urinary retention, Dysphagia, Mydriasis	ORPHA:228371
Rett Syndrome	Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, St...	OMIM:312750
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental cataract, Proxi...	OMIM:231680
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera...	OMIM:619512
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Cataract, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly,...	OMIM:601353
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract	ORPHA:523
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Gm1 Gangliosidosis	Ataxia, Corneal opacity, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Abnormal form of the ver...	ORPHA:354
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Short stature, Postnatal growth retardation, Zonular cataract, Brachydactyly	ORPHA:168577
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho...	ORPHA:3103
X-Linked Intellectual Disability Due To Gria3 Mutations	Aggressive behavior, Kyphosis, Cryptorchidism, Babinski sign, Self-mutilation, Micropenis, Myoclo...	ORPHA:364028
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe...	OMIM:210600
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Cryptorchidism, Microcornea, Aplasia/Hypoplasia involvin...	ORPHA:3301
White-Sutton Syndrome	Micrognathia, Short neck, Broad thumb, Broad foot, Hypoplastic cervical vertebrae, Brachydactyly	OMIM:616364
Walker-Warburg Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Abnormal cortical gyration, Cryptorchidism, Polym...	ORPHA:899
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Myopic astigmatism, Inabilit...	OMIM:618443
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism	OMIM:614072
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria, Lethargy, Failure to thrive, Limb hyp...	OMIM:606054
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Sheehan Syndrome	Dyspareunia, Decreased female libido, Sparse axillary hair, Sparse pubic hair, Obesity, Impotence...	ORPHA:91355
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, ...	ORPHA:2720
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Scoliosis	OMIM:618234
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairli...	ORPHA:2983
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly...	ORPHA:98863
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Short neck, 4-5 toe syndactyl...	OMIM:260660
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Cataract, Short stature, Follicu...	ORPHA:201
Spondyloocular Syndrome	Osteopenia, Long toe, Cataract, Unilateral cryptorchidism, Arachnodactyly, Femur fracture, Overla...	OMIM:605822
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia, Failure to thrive	OMIM:239200
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder, Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonu...	OMIM:619780
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Synophrys, Low anterior hairline, Microcornea, ...	ORPHA:199
Late-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556037
Pure Autonomic Failure	Dysuria, Impotence, Urinary incontinence	ORPHA:441
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ank...	OMIM:609541
Early-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556030
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Nephro...	ORPHA:352447
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Metaphyseal wide...	OMIM:250250
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Incoordination, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Lethargy, Fa...	OMIM:277380
Snakebite Envenomation	Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney i...	ORPHA:449285
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infa...	OMIM:618891
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls	ORPHA:75840
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Abnormal sperm motility, Female infertility	ORPHA:244
Xeroderma Pigmentosum, Complementation Group B	Cataract, Short stature, Pigmentary retinopathy, Hypogonadism, Freckling	OMIM:610651
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Premature ovarian insufficiency, Hypospadias, Small for gestational age, Catar...	OMIM:176690
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Square ...	OMIM:216400
Bruck Syndrome 2	Hydroxyprolinuria, Platyspondyly, Pterygium	OMIM:609220
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Distichiasis, Scoliosis	ORPHA:2598
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Iritis, Alopecia, Abnormal central...	ORPHA:3385
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydac...	ORPHA:1655
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roo...	ORPHA:2976
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormality of the ureter, Obesity, Hy...	ORPHA:3409
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Chops Syndrome	Curly hair, Cataract, Short stature, Thick hair, Cryptorchidism, Synophrys, Obesity, Coarse hair,...	OMIM:616368
3Mc Syndrome	Craniosynostosis, Supernumerary nipple, Bilateral cryptorchidism, Postnatal growth retardation, H...	ORPHA:293843
Cataract 47	Microcornea, Cataract	OMIM:612018
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Pulverulent cataract, Developmental cataract	OMIM:193220
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism...	ORPHA:99776
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery sten...	OMIM:617913
D-Glyceric Aciduria	Chorea, Hyperglycinuria, Myoclonus, Spasticity	ORPHA:941
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Short stature, Cryptorchidism,...	ORPHA:568
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clonus, Tongue fasciculation...	OMIM:211530
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Aggressive behavior, Tremor, Kyphosis, Synophrys, Low anterior hairline, Dysphagia...	OMIM:617061
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sciatic notc...	ORPHA:508533
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity...	ORPHA:98853
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Cataract, Short stature, Bilateral cry...	ORPHA:3042
Fucosidosis	Corneal opacity, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Mucopolysacchariduria, A...	ORPHA:349
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Recurrent urinary tract infecti...	OMIM:610443
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Failure to ...	OMIM:308940
Gitelman Syndrome	Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Poly...	OMIM:263800
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, High iliac wing, Abnormality of skin pigmentation, Coarse hair, Post...	ORPHA:50814
15Q24 Microdeletion Syndrome	Hypospadias, Small for gestational age, Kyphosis, Cryptorchidism, Obesity, Microphallus, Scoliosi...	ORPHA:94065
Isovaleric Acidemia	Lethargy, Hyperglycinuria	OMIM:243500
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Short stature, Camptodactyly of finger, Cachexia, ...	ORPHA:3380
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Kyphoscoliosis, Tremor, Inability to walk, Developmental glaucoma, Vocal cord paralysis...	ORPHA:99956
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypoplastic fifth toenail, Hypospadias, Proxim...	ORPHA:2438
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Corneal opacity, Cataract, Short stature, Postnatal growt...	ORPHA:2962
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cryptorchidism, Growth delay, Pigmentary re...	OMIM:614230
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Cockayne Syndrome Type 1	Cataract, Hypermelanotic macule, Postnatal growth retardation, Cryptorchidism, Pigmentary retinop...	ORPHA:90321
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Short stature, Sparse eyebrow, Cryptorchidism, Synophrys, ...	ORPHA:3063
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp...	ORPHA:3082
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Lethargy, Fail...	ORPHA:395
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive	ORPHA:536516
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Intrauterine growt...	ORPHA:2470
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit...	ORPHA:79432
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis	OMIM:252605
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a...	ORPHA:63259
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Aggressive behavior, Tremor, Kyphosis, Synophrys, Gait ataxia, Scoliosis, C...	ORPHA:476126
Wilson Disease	Hyperphosphaturia, Poor motor coordination, Proteinuria, Tremor, Rigidity, Nephrolithiasis, Hand ...	OMIM:277900
Arthrogryposis, Distal, Type 5	Keratoconus, Kyphosis, Keratoglobus, Hypertonia, Astigmatism, Scoliosis	OMIM:108145
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Short stature, Cryptorchidism, Short foot, Hand p...	ORPHA:250989
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Short stature, Cryptorchidism, Wide anterior fontanel, L...	ORPHA:401973
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Growth delay, Aplasia of the uterus, Intrauterine growth retardation...	OMIM:614083
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Small for gestational age, Metatarsus adductus, Cryptorchidism, Wide anter...	OMIM:614866
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver...	OMIM:143095
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Canavan Disease	Abnormal pyramidal sign, Elevated urinary N-acetylaspartic acid level, Opisthotonus	OMIM:271900
Machado-Joseph Disease Type 1	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276241
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly...	ORPHA:94080
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ...	ORPHA:261318
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro...	ORPHA:508
Ciliary Dyskinesia, Primary, 12	Reduced sperm motility, Short stature, Immotile sperm, Abnormal central microtubular pair morphol...	OMIM:612650
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Cataract, Dysgyria, Intrauterine growth retardation	OMIM:620327
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Schwartz-Jampel Syndrome	Low anterior hairline, Coxa vara, Microcornea, Generalized hirsutism, Abnormally ossified vertebr...	ORPHA:800
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cataract, Absent eyelashes, Cryptorchidism, Abnormal hair mor...	ORPHA:861
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Cataract, Hypospadias, Small for gestational age, Short stature, Postnatal growth ...	OMIM:257300
Alpha-Mannosidosis	Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis	ORPHA:61
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia, Aplasia of the vagina, A...	ORPHA:457284
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Cataract, Severe short stature, Tapered finger, Sparse e...	ORPHA:444072
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Impotence	OMIM:608088
Hartnup Disease	Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria	ORPHA:2116
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Synophrys, Obesity, Self-injuri...	ORPHA:254346
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Inability to walk, Chorea, Generalized aminoaciduria, Corneal scarring...	ORPHA:404454
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Kyphos...	ORPHA:261349
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Short neck, Kyphosis, Inability to walk, Scoliosis, Dysphagia, Oculomotor a...	OMIM:301041
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Kyphosis, Bifid femur, Abnormal form of the vertebral bodies, Ap...	ORPHA:2769
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis	ORPHA:88628
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Decreased fertility in fe...	OMIM:608594
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abn...	ORPHA:2479
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ...	OMIM:253220
Vici Syndrome	Hypopigmentation of hair, Cataract, Albinism, Postnatal growth retardation, Ocular albinism, Deve...	OMIM:242840
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Renal cyst, Secondary amenorrhea, Self-injurious be...	ORPHA:488618
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Nummular pigmentation of the fundus, Cortical cataract	OMIM:618613
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity	OMIM:615084
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Primary amenorrh...	OMIM:603457
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
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Decreased serum leptin, Decreased fertility in females, Labial hyper...	OMIM:269700
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Cata...	ORPHA:2238
Alstrom Syndrome	Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Kyphosis, Irregular menstruation, ...	OMIM:203800
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Myopathy, Centronuclear, 2	Waddling gait, Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato...	OMIM:612649
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Failure to ...	OMIM:239000
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:277410
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of h...	ORPHA:90354
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Cataract, Short stature, Generalized hirsutism, Anonychia, Hypothyroidism, Sh...	ORPHA:1563
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney	OMIM:618272
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Brittle hair, Ataxia	OMIM:616084
Neurofibromatosis Type 1	Pheochromocytoma, Heterochromia iridis, Genu varum, Short stature, Precocious puberty, Cryptorchi...	ORPHA:636
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Anorexia, Anterior chamber flare, Elevated circulating creatinine concentration, Renal ...	ORPHA:91500
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of...	OMIM:120330
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Scoliosis, Difficulty walking, Thick eyebrow	OMIM:300280
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Abnormal localization of kidney, Hematuria, Scoliosis, Abnormal vertebr...	ORPHA:3121
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Menometrorrhagia, Partial albinism, Ocular albinism, Weight l...	ORPHA:79430
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Rhizomelia, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcor...	OMIM:615877
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Tip-toe gait, Gait d...	ORPHA:98855
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Brittle hair, Ataxia, Cataract, Lacticaciduria, Tubulointerstitial nephritis, A...	OMIM:124000
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Sclerocornea, Iris coloboma, Finger syndactyly,...	ORPHA:818
Mucopolysaccharidosis Type 4	Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucop...	ORPHA:582
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Nephrolithiasis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies...	OMIM:219090
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair	ORPHA:1883
Machado-Joseph Disease Type 3	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276244
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic...	OMIM:269200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Generalized aminoaciduria, Difficulty walking	OMIM:264700
Knobloch Syndrome 1	Band keratopathy, Developmental cataract, Iris transillumination defect, Alopecia of scalp, Lens ...	OMIM:267750
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Aymé-Gripp Syndrome	Sparse scalp hair, Cataract, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger,...	ORPHA:1272
Emanuel Syndrome	Sacral dimple, Torticollis, Recurrent urinary tract infections, Unilateral renal agenesis, Kyphos...	OMIM:609029
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:604292
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Classic Phenylketonuria	Growth delay, Hypopigmentation of hair, Cataract, Hypopigmentation of the skin	ORPHA:79254
Lesch-Nyhan Syndrome	Short stature, Testicular atrophy, Hip dislocation	OMIM:300322
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Scoliosis	ORPHA:79327
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ...	ORPHA:857
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:129900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Iris co...	ORPHA:2250
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Short stature, Cryptorchidism, Long fingers, 2-3 toe syn...	OMIM:300960
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Conjunctival icterus, Chronic kidney disease, ...	ORPHA:447
Lysinuric Protein Intolerance	Failure to thrive, Stage 5 chronic kidney disease, Fine hair, Truncal obesity, Aminoaciduria, Hyp...	OMIM:222700
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Cataract, Scoliosis, Dysphagia	ORPHA:79107
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Hypospadias, Short stature, Sparse eyelashes, Phimos...	OMIM:305000
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplication of thumb ph...	OMIM:612474
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Long ey...	OMIM:618476
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Hi...	OMIM:620305
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:304120
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Spasticity, Scoliosis, Apraxia, Oculomotor apraxia, High ant...	OMIM:314580
Tetrasomy 9P	Absent gallbladder, Hypoplastic scapulae, Cryptorchidism, Pilomatrixoma, Small hand, Oligozoosper...	ORPHA:3310
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Paralysis, Urinary retention, Respiratory paralysis, Elevated urin...	OMIM:176000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Synophrys, Abnormal curvature of the vertebral column, Hypertonia, Tics, Compu...	OMIM:619475
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap...	OMIM:607014
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Conjunctival icterus, Elevated urin...	OMIM:606812
Incontinentia Pigmenti	Ridged nail, Alopecia, Cataract, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Nai...	OMIM:308300
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Mucopolysacchariduria, Opacification of the corneal...	ORPHA:583
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg...	OMIM:253200
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormality of skin pi...	ORPHA:744
Myhre Syndrome	Hypoplastic iliac wing, Sparse hair, Short stature, Cryptorchidism, Short toe, Obesity, 2-3 toe s...	OMIM:139210
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Reduced sperm motility	OMIM:615434
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Hyperpigmented streaks, Camptodactyly of 2nd-5th finge...	OMIM:601803
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Micrognathia,...	ORPHA:90652
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Myoclonus, Scoliosis, Tetra...	OMIM:203700
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor...	ORPHA:2311
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Kyphosis, Cryptorchidism, Low anterior...	OMIM:619244
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proc...	OMIM:252500
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Absent eyelashes, Insulin resista...	ORPHA:90153
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:180870
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Corneal opacity, Hypospadias, Unilateral renal agenesis, Small for gestational...	ORPHA:464311
Pituitary Apoplexy	Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Mydriasis	ORPHA:95613
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Tet...	ORPHA:58
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacificatio...	OMIM:158310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis	OMIM:618138
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Scoliosis, Compulsive beh...	ORPHA:404440
Pmm2-Cdg	Osteopenia, Cataract, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr...	ORPHA:79318
Hurler-Scheie Syndrome	Corneal opacity, Heparan sulfate excretion in urine, Kyphosis, Dermatan sulfate excretion in urin...	OMIM:607015
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Myoclonus	OMIM:614946
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyl...	OMIM:251450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Craniosynostosis, Tapered finger, Cryptorchidism, Small hand, Severe postnatal growth r...	OMIM:620005
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Synophrys, Oral-pharyngeal dysphagia, Promin...	OMIM:300966
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Urinary incontinence, Spastic tetraparesis, Kyphosis, Babinski sign, Spast...	ORPHA:171629
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility...	ORPHA:2616
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Ivory epiphyses of th...	ORPHA:93357
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Pudendal Neuralgia	Back pain, Dyspareunia, Dysuria, Pollakisuria, Impotence	ORPHA:60039
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Inhalational Botulism	Urinary retention, Mydriasis, Paralysis	ORPHA:254504
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Failure to thrive, Corneal opacity, Hypospadias, Unilateral renal agenesis, Small ...	ORPHA:464306
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia, Proteinuria, Tremor, Kyp...	OMIM:212065
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build	OMIM:254090
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter...	OMIM:618280
Congenital Fibrosis Of Extraocular Muscles	Cataract, Hypogonadotropic hypogonadism, Hand oligodactyly, Anisocoria, Abnormal pupil shape, Pol...	ORPHA:45358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
Somatomammotropinoma	Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Kyphosis, Synophrys, Spinal...	ORPHA:314769
Poliomyelitis	Anorexia, Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Agitation, Fascicula...	ORPHA:2912
Acromegaly	Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Kyphosis, Synophrys, Wide p...	ORPHA:963
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Corneal opacity, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, L...	ORPHA:2072
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Paralysis	OMIM:612300
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cafe-au-lait spot, Cortical cataract	OMIM:101000
Distal Triplication 15Q	Corneal dystrophy, Abnormality of the kidney, Large for gestational age, Kyphosis, Dilatation of ...	ORPHA:314588
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Kyphosis, Microcornea, Scoliosis, Sparse hair, Spasticity, Hydronephrosis	OMIM:616449
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Failure to thrive, Polycystic kidney dysplasia, Short neck	OMIM:608776
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Short phalanx of...	OMIM:302350
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine, Hypertonia, Limb hypertonia	OMIM:615501
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Scoliosis	OMIM:181405
Cohen-Gibson Syndrome	Osteopenia, Cataract, Thin nail, Coxa valga, Cryptorchidism, Long fingers, Flared metaphysis, Mel...	OMIM:617561
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm	OMIM:613808
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Cockayne Syndrome	Dry hair, Urinary incontinence, Progressive gait ataxia, Hypertonia, Lentiglobus, Intention tremo...	ORPHA:191
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Bruck Syndrome 1	Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis, Pterygium	OMIM:259450
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Opisthotonus, Choreo...	ORPHA:79139
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Crisponi Syndrome	Kyphosis, Hypertonia, Scoliosis	ORPHA:1545
Aspartylglucosaminuria	Cataract, Aspartylglucosaminuria, Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, ...	OMIM:208400
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Short stature, Down-sloping shoulders, Wid...	ORPHA:1974
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Amyotrophic Lateral Sclerosis	Spasticity, Agitation, Paralysis	ORPHA:803
Shashi-Pena Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Kyphosis, Synophrys, Limb hypertonia, Long eyel...	OMIM:617190
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypopigmentation of the skin, Iris hyp...	ORPHA:411511
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Small for gestational age, Aggressive behavior, Inability to walk,...	OMIM:617799
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Typical Nemaline Myopathy	Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis	ORPHA:171436
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Hypospadias, Aggressive behavior, Sparse eyebrow, Kyphosis, Inability to walk,...	ORPHA:464738
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis	OMIM:267200
Noonan Syndrome 1	Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Postnatal growth reta...	OMIM:163950
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C...	ORPHA:53271
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Tongue thrusting, Bruxism, Athetosis, Scoliosis, Apraxia, Spasticity, Abnormal ...	OMIM:613454
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis	OMIM:609128
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Generalized aminoaciduria, Difficulty walking	ORPHA:289157
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5th finger, Sh...	OMIM:136140
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Low anterior hairline, Spastic tetraplegia, Dysphagia, Limb hypertonia	OMIM:619909
Ciliary Dyskinesia, Primary, 22	Reduced sperm motility, Infertility, Absent inner and outer dynein arms	OMIM:615444
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Anisocoria, M...	OMIM:613406
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Epiphyseal stippling, Coarse hair, Cataract	OMIM:118650
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:276621
Stickler Syndrome, Type I	Cataract, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Sp...	OMIM:108300
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Degcags Syndrome	Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying...	OMIM:619488
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan...	ORPHA:167
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Kyphosis, Cryptorchidism, Long eyelashes, Scoliosis, Attention deficit hyp...	OMIM:619005
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry	ORPHA:1552
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
1P36 Deletion Syndrome	Hypoplasia of penis, Clinodactyly of the 5th finger, Hypothyroidism, Generalized hirsutism, Hypos...	ORPHA:1606
X-Linked Intellectual Disability, Armfield Type	Cataract, Cryptorchidism, Aminoaciduria, Galactosuria, Organic aciduria	ORPHA:85276
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Vocal cord paralysis, Myoclonus, Scoliosis, Dysphagia, Spasticity	ORPHA:500144
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal intervertebral disk morphology, Abnormal distal phalanx morphology of fin...	ORPHA:2636
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Low p...	ORPHA:2789
Alkaptonuria	Intervertebral disk calcification, Aminoaciduria, Prostatitis, Nephrolithiasis	ORPHA:56
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, External genital hypoplasia, Adrenal hypoplasia, Postaxial ...	OMIM:249000
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Compulsive behaviors, Scoliosis, Attention deficit hyperactivity disorder...	OMIM:618050
Cockayne Syndrome B	Dry hair, Renal insufficiency, Ataxia, Proteinuria, Small for gestational age, Abnormal hair morp...	OMIM:133540
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Male hypogonadism, Scoliosis, Cryptorchidism	OMIM:615381
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hyperto...	OMIM:617527
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:29072
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Hypospadias, Small for gestational age, Short stature, Precociou...	ORPHA:2044
Cahmr Syndrome	Lamellar cataract, Generalized hypertrichosis	OMIM:211770
Yunis-Varon Syndrome	Congenital hip dislocation, Sclerocornea, Short metatarsal, Absent hallux, Absent fingernail, Mic...	OMIM:216340
Coffin-Lowry Syndrome	Cataract, Kyphosis, Abnormal form of the vertebral bodies, Self-injurious behavior, Hypertonia, G...	ORPHA:192
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Decreased urinary potassium, Obesity, Tetraplegia, Weight loss, Respiratory pa...	ORPHA:79102
Pagod Syndrome	Short stature, Agonadism, Abnormality of neuronal migration, Abnormality of the uterus, Ambiguous...	ORPHA:991
Lysinuric Protein Intolerance	Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial...	ORPHA:470
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Supernumerary nipple, Unilateral renal agenesis, Kyphosis, Cryptorchidism,...	OMIM:619951
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney	ORPHA:2655
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis, Frequent falls	OMIM:620351
Cono-Spondylar Dysplasia	Short nail, Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive	ORPHA:420794
Arnold-Chiari Malformation Type I	Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebrae,...	ORPHA:268882
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Paralysis	OMIM:242100
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemipar...	ORPHA:2396
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis, Pterygium	ORPHA:2771
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Posterior embryotoxon, Hyperthyroidism, Hypospadias, Arachnodactyly, Cataract...	ORPHA:567
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Abnormality of the uterus, Complete duplication of thumb phalanx,...	ORPHA:59315
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis	ORPHA:236
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Failure to thrive	OMIM:169400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypopigmentation of the skin, Iris hyp...	ORPHA:98794
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Sutural cataract	OMIM:201470
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Phocomelia, Sparse hair, Syndactyly, Hypoplasia of the ulna, Hypospadias, Aplasi...	OMIM:268300
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Obesity, Astigmatism, Scoliosis	OMIM:618493
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Intrauterine growth retardation	OMIM:611812
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations	ORPHA:682
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, Astigmatism, Scoliosis, D...	ORPHA:261250
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,...	ORPHA:37553
Cohen Syndrome	Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Kyphosis, Cryptorchidism, ...	ORPHA:193
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Lymphopenia, Hepatoblastoma, Increased mean...	ORPHA:84064
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Hyperpigmentation of the skin, Cortical cataract	ORPHA:637
Rift Valley Fever	Back pain, Anorexia, Paralysis, Paraparesis, Hemiparesis, Hematuria, Decerebrate rigidity	ORPHA:319251
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis	ORPHA:64755
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Marfanoid Habitus With Situs Inversus	Kyphosis, Lens subluxation, Scoliosis	OMIM:609008
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Progressive spastic quadriplegia, Abnormality o...	ORPHA:521426
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Cryptorchi...	ORPHA:322
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,...	ORPHA:67036
Glioblastoma	Paralysis	ORPHA:360
Meckel Syndrome	Bowing of the long bones, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Panc...	ORPHA:564
Cockayne Syndrome Type 3	Dry hair, Cataract, Renal insufficiency, Neurogenic bladder, Unilateral renal agenesis, Hydrouret...	ORPHA:90324
Marden-Walker Syndrome	Hypospadias, Short neck, Cryptorchidism, Kyphosis, Renal hypoplasia, Scoliosis, Micropenis	OMIM:248700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Generalized aminoaciduria	OMIM:251880
Johanson-Blizzard Syndrome	Clinodactyly of the 5th finger, Micropenis, Hypothyroidism, Abnormality of the nail, Hypospadias,...	OMIM:243800
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Hypospadias, Highly arched eyebrow, Sclerocornea, Abnormality of the kidne...	ORPHA:280
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Micropenis,...	OMIM:301040
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Periodic paralysis, Nephrocalcinosis, Renal Fanconi syndro...	OMIM:276700
Legius Syndrome	Inguinal freckling, Cataract, Short stature, Axillary freckling, Ovarian neoplasm, Diaphyseal dys...	ORPHA:137605
Multiple Endocrine Neoplasia Type 1	Anorexia, Hypercalciuria, Nephrolithiasis, Weight loss, Impotence, Lethargy, Decreased male libid...	ORPHA:652
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Craniosynostosis, Supernumerary nipple, Abnormal repr...	ORPHA:1521
Weaver Syndrome	Kyphosis, Cryptorchidism, Slurred speech, Fine hair, Hydrocele testis, Poor fine motor coordinati...	OMIM:277590
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Neck pterygia, Antecu...	OMIM:265000
3C Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Hydronephrosis, Scoliosis,...	ORPHA:7
Koolen-De Vries Syndrome Due To A Point Mutation	Fetal pyelectasis, Vesicoureteral reflux, Renal duplication, Alopecia, Hypospadias, Hyperlordosis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Fetal pyelectasis, Vesicoureteral reflux, Renal duplication, Alopecia, Hypospadias, Hyperlordosis...	ORPHA:363958
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Abnormality of the kidney	ORPHA:93274
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ...	OMIM:164210
Camurati-Engelmann Disease	Waddling gait, Ataxia, Anorexia, Hyperlordosis, Cachexia, Kyphosis, Abnormality of the vertebral ...	ORPHA:1328
Fountain Syndrome	Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic...	ORPHA:3219
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Cryptorchidism, Kyphosi...	OMIM:619194
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Short neck, Kyphosis, Cryptorchidism, Coarse hair, Scoliosi...	OMIM:130720
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Cataract, Bifid uterus, Absent ...	OMIM:256520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossif...	ORPHA:93271
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
Interstitial Lung And Liver Disease	Aminoaciduria, Failure to thrive	OMIM:615486
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Thoracolumbar kyphosis, Osteopathia str...	OMIM:300373
Tick-Borne Encephalitis	Back pain, Speech apraxia, Incoordination, Anorexia, Paralysis, Tremor, Hyperkinetic movements, T...	ORPHA:297
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive	OMIM:617602
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Kinsship Syndrome	Pes planus, Sacral dimple, Coxa valga, Micrognathia, Short neck, Hip dislocation, Fibular hypopla...	OMIM:619297
Marshall-Smith Syndrome	Hallux valgus, Microretrognathia, Thoracic scoliosis, Bullet-shaped middle phalanges of the hand,...	OMIM:602535
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Tubuloin...	ORPHA:358
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Irregular menstruation, Platyspondyly	OMIM:616482
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo...	OMIM:107480
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr...	ORPHA:730
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis	ORPHA:2075
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Noonan Syndrome 14	Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ...	OMIM:619745
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Williams Syndrome	Hypoplasia of penis, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Nephrocalcinosis, ...	ORPHA:904
Monosomy 9Q22.3	Hyperactivity, Cataract, Short neck, Large for gestational age, Kyphosis, Abnormality of the vert...	ORPHA:77301
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Abnormal repetitive mannerisms, Scoliosis	ORPHA:261144
Glossopharyngeal Neuralgia	Vocal cord paralysis, Weight loss, Abnormality of the cervical spine, Oral-pharyngeal dysphagia	ORPHA:221098
Mucopolysaccharidosis, Type Ii	Short neck, Heparan sulfate excretion in urine, Kyphosis, Dermatan sulfate excretion in urine, Ur...	OMIM:309900
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Absent r...	ORPHA:233
Branchiooculofacial Syndrome	Cataract, Hypospadias, Proximal placement of thumb, Supernumerary nipple, Postnatal growth retard...	OMIM:113620
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Classic Homocystinuria	Sparse scalp hair, Cataract, Anorexia, Ectopia lentis, Kyphosis, Hemiplegia/hemiparesis, Scoliosis	ORPHA:394
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair	ORPHA:1005
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms, Abnormal cornea morphology	OMIM:244400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Atelis Syndrome 2	Sacral dimple, Kyphosis, Dysmetria, Developmental cataract, Attention deficit hyperactivity disorder	OMIM:620185
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis, Dysphagia	OMIM:617143
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Short stature, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficienc...	OMIM:130050
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Short stature, Generalized hypopigmentation of ...	ORPHA:3322
Oeis Complex	Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female...	OMIM:258040
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dilatation of the renal pelvis, Dysmetria, Dysphagia, Intentio...	OMIM:619708
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D...	OMIM:203500
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline,...	ORPHA:251014
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Agitation, Truncal obesity	OMIM:219080
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp...	ORPHA:763
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Agitation, Truncal obesity	OMIM:610475
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Spondyloenchondrodysplasia	Proteinuria, Kyphosis, Chorea, Chronic kidney disease, Hematuria, Platyspondyly, Spasticity	ORPHA:1855
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Hypoplastic pelvis, Adrena...	OMIM:273395
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Aggressive behavior, Tremor, Kyphosis, Cryptorchidism, Im...	OMIM:300967
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Impotence	ORPHA:43393
Gaucher Disease Type 1	Proteinuria, Anorexia, Kyphosis, Hematuria, Vertebral compression fracture	ORPHA:77259
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scolio...	OMIM:162300
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis	OMIM:619718
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, Ectopia pupillae, Scoliosis, Attentio...	OMIM:618223
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Triosephosphate Isomerase Deficiency	Tremor, Kyphosis, Unsteady gait, Spasticity, Failure to thrive	OMIM:615512
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b...	OMIM:259770
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Alopecia, Kyphoscoliosis, Kyphosis, Cryptorchidism, Keratoconj...	ORPHA:536532
Mgat2-Cdg	Kyphosis, Stereotypical hand wringing, Long eyelashes, Hypoplastic nipples, Scoliosis, Failure to...	ORPHA:79329
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hemiver...	OMIM:214800
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormality...	ORPHA:2273
Primrose Syndrome	Bilateral cryptorchidism, Synophrys, Irregular vertebral endplates, Posterior scalloping of verte...	OMIM:259050
Marfan Syndrome	Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Kyphosis, Hypoplasia of the iris, Lens subl...	ORPHA:558
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria, Tortuosity of conjunctival vessels	OMIM:609242
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis	OMIM:617821
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Gait a...	ORPHA:457359
Liver Disease, Severe Congenital	Dry hair, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Poor fine motor coor...	OMIM:619991
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Kyphosis, Cryptorchidism, Spinal canal stenosis, Hor...	ORPHA:1724
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2215
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Hypoglycemia, Tarsal synostosis, Woolly hair,...	ORPHA:565
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Vesicoureteral re...	OMIM:616894
Ramon Syndrome	Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight, Hypertrichosis	OMIM:266270
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Kyphosis, Dysphagia, Astigmatism, Difficulty walking, Scoliosis	OMIM:619482
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestational age, Gait ataxia, Scoliosis	OMIM:617011
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis, Anorexia	ORPHA:1969
Osteogenesis Imperfecta	Ataxia, Cervical kyphosis, Corneal opacity, Small for gestational age, Kyphosis, Vertebral compre...	ORPHA:666
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectourethral fistula	OMIM:603116
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Distichiasis	OMIM:153400
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Polyphagia	OMIM:300942
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Aspartylglucosaminuria	Aspartylglucosaminuria, Scoliosis, Anterior beaking of lumbar vertebrae, Macroorchidism, Beaking ...	ORPHA:93
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Autosomal Recessive Robinow Syndrome	Sacral dimple, Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Kyphosis,...	ORPHA:1507
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Poland Syndrome	Duplicated collecting system, Hypospadias, Short neck, Renal hypoplasia/aplasia, Kyphosis, Crypto...	ORPHA:2911
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Keratoconjunctivitis sicca, Ectopia lentis	OMIM:616914
Stickler Syndrome	Cataract, Cachexia, Ectopia lentis, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abno...	ORPHA:828
Sotos Syndrome	Ureteral duplication, Tremor, Vesicoureteral reflux, Abnormal vertebral morphology, Hypospadias, ...	ORPHA:821
Williams-Beuren Syndrome	Vocal cord paralysis, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micrope...	OMIM:194050
Zttk Syndrome	Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Kyphosis, Hemivertebrae, Horsesh...	OMIM:617140
Cataract 49	Posterior cortical cataract	OMIM:619593
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Congenital hip dislocation, Hypospadias, Short stature, Abnormality of hai...	ORPHA:286
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht...	OMIM:249420
Mucolipidosis Type Ii	Dry hair, Inability to walk, Kyphosis, White hair, Fine hair, Weight loss	ORPHA:576
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Cervical C2/C3 verte...	ORPHA:444077
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Cryptorchidism	OMIM:619123
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Synophrys, Scoliosis	OMIM:619557
Pineoblastoma	Lethargy, Paralysis	ORPHA:251909
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Kyphosis, Epispadias, Cryptorchidism, Hypogonadism, Scoli...	ORPHA:2658
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Occipital Horn Syndrome	Ureteral obstruction, Kyphosis, Hydronephrosis, Bladder diverticulum, Platyspondyly, Coarse hair,...	OMIM:304150
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Periodic hypokalemic paresis	OMIM:259730
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Cystic Fibrosis	Male infertility, Failure to thrive, Hypercalciuria	OMIM:219700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Kyphosis, Absent eyebrow, Hypospadias	ORPHA:85199
Coffin-Lowry Syndrome	Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Coarse hair, Scoliosis, Decreased body weight, ...	OMIM:303600
Wrinkly Skin Syndrome	Short nail, Kyphosis, Cryptorchidism, Scoliosis, Sparse hair, Failure to thrive	OMIM:278250
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Cerebrocostomandibular Syndrome	Kyphosis, Multicystic kidney dysplasia	ORPHA:1393
17Q11 Microdeletion Syndrome	Abnormal central motor function, Kyphosis, Renovascular hypertension, Abnormality of the vertebra...	ORPHA:97685
Viss Syndrome	Sparse scalp hair, Alopecia, Kyphosis, Hydronephrosis, Scoliosis, Dysphagia, Failure to thrive, B...	OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ggt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ggt1.

No publications found that use IMPC mice or data for Ggt1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ggt1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ggt1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ggt1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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