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Gene: Ggt1 MGI:95706

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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.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Spondylometaphyseal Dysplasia, Corner Fracture Type
Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture... OMIM:184255
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Osteopenia, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonad... ORPHA:243
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte... ORPHA:163976
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Satoyoshi Syndrome
Alopecia universalis, Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of th... ORPHA:3130
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Male hypogonadism, Small hand, Small nail, Failure to thrive, Absence o... ORPHA:163971
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidi... OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Gurrieri Syndrome
Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver... OMIM:601187
Chromosome Xq27.3-Q28 Duplication Syndrome
Small hand, Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testostero... OMIM:300869
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me... OMIM:609324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Acromesomelic Dysplasia 2A
Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibular synostosis, A... OMIM:200700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis, Primar... OMIM:615300
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Short thumb, Rad... OMIM:201250
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga OMIM:601370
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... ORPHA:2347
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cry... OMIM:308750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Short tibia, Abnormality of the vertebral column, Short toe, ... OMIM:112910
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Premature ovarian ... ORPHA:79237
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Mic... OMIM:602557
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris... ORPHA:2235
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... OMIM:613628
Langer Mesomelic Dysplasia
Short tibia, Rudimentary fibula, Radial bowing, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Estrogen Resistance
Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Pol... OMIM:615363
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Premature ovarian insufficiency, Failure to thrive, Cataract ORPHA:2278
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp... ORPHA:785
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... OMIM:222600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreased serum testoster... ORPHA:261534
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Infertility OMIM:300719
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Fibrodysplasia Ossificans Progressiva
Short 1st metacarpal, Broad femoral neck, Small cervical vertebral bodies, Progressive cervical v... OMIM:135100
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short toe, Short tibia, Radial bowing, Abnormal metatarsal morp... OMIM:127300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short thumb, Short tibia, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Short distal phalanx of finger, Cataract, Band keratopathy, Decreased s... ORPHA:2959
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of t... OMIM:600705
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle... OMIM:609993
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... ORPHA:3101
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Obesity, Cryptorch... OMIM:194072
Seckel Syndrome 7
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... OMIM:614851
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Intrauterine growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, ... OMIM:619761
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... ORPHA:93352
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Decreased r... ORPHA:3464
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas... ORPHA:2746
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Motor... OMIM:239500
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Abnormal metacarpoph... ORPHA:465508
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... OMIM:609441
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Double-layered patella, Hypoplasia of the femoral head, Talipes equinovarus... OMIM:226900
Fibular Hemimelia
Toe syndactyly, Short tibia, Finger syndactyly, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Short stature OMIM:312910
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... OMIM:214450
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Dysosteosclerosis
Platyspondyly, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Abnormal metap... ORPHA:1782
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Short stature ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Cataract ORPHA:101006
Infantile Liver Failure Syndrome 3
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... OMIM:618641
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H... OMIM:108720
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Fibula... ORPHA:3144
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hartnup Disorder
Neutral hyperaminoaciduria, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:234500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Cryptorchidism OMIM:274205
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Microcornea, Sparse pubic hair, Female infertility... OMIM:110100
Dysosteosclerosis
Platyspondyly, Short diaphyses, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, ... OMIM:224300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Hypo... ORPHA:2916
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Gait disturbance, Lower limb ... OMIM:611225
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Amed Syndrome, Digenic
Failure to thrive, Long thumb, Hyperpigmentation of the skin, Adrenal hypoplasia, Short stature, ... OMIM:619151
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... ORPHA:91348
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... OMIM:132400
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Cutaneous syndactyly of toes, Short middle phalanx o... OMIM:619217
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones, Flattened ... OMIM:271530
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:3085
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Aplasia/hypoplasia involving bones of the extremities, Kyphosis, Upper limb underg... ORPHA:94068
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, Coarse metaphy... ORPHA:2635
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Flattened femoral head, Hump-shaped mound of bone in central and posterior portion... ORPHA:99642
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, 11 pairs of ribs, Micrognathia, Overlapping toe, Fibular... OMIM:201170
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Knee dislocation, Small epiphyses, Lumbar scoliosis, Adducted thu... OMIM:620269
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, External genital hypoplasia, Obe... ORPHA:177910
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo... OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Short 4th finger,... ORPHA:2756
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ... ORPHA:2163
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Female infertility, Male inferti... ORPHA:91
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
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Short neck, Bro... ORPHA:56304
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubu... ORPHA:56305
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Diaminopentanuria
Hyperlysinuria, Cystinuria, Spasticity, Ataxia OMIM:222350
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... ORPHA:42665
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... ORPHA:2410
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Hypoplast... ORPHA:3027
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... ORPHA:79106
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Premature ovarian insufficiency, Juvenile cataract, Absent eye... OMIM:618625
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies,... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Hirsutism, Hyperactivity, Small for gestational age ORPHA:85288
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Highly arched eyebrow, Growth delay, Clinodactyly, Hypertrichosis... OMIM:615866
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Glycine Encephalopathy 1
Hyperglycinuria, Myoclonus, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... OMIM:101800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... ORPHA:1190
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Hypo... OMIM:154230
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Achondroplasia
Rhizomelia, Radial bowing, Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Femoral b... OMIM:100800
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Rothmund-Thomson Syndrome, Type 2
Small hand, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent... OMIM:268400
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometrocolpos, Type II diabetes m... ORPHA:110
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial i... ORPHA:79345
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:98754
Manganese Poisoning
Decreased male libido, Akinesia, Inappropriate laughter, Decreased female libido, Cogwheel rigidi... ORPHA:306682
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Fair hair, Increased level of hippu... OMIM:261600
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... ORPHA:628
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraplegia, Difficulty wa... ORPHA:100999
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Fibrochondrogenesis 1
Platyspondyly, Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones... OMIM:228520
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Spastic paraplegia, Urinary incontinence, Hand tremor, Head tremor, Limb dysmetria, Upp... OMIM:614409
Hyperlysinemia, Type I
Hyperlysinuria, Dysdiadochokinesis, Ectopia lentis, Clumsiness, Cystinuria, Hyperactivity, Ornith... OMIM:238700
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Gm1 Gangliosidosis Type 1
Platyspondyly, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, Acetabular dysplasi... ORPHA:79255
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Irregularity ... ORPHA:85172
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal joint space, Pedal ... ORPHA:166011
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:98793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Sparse pubic hair, S... OMIM:618419
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:177904
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal s... ORPHA:1860
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Spasticity, Ectopia lentis, Hemiplegia/hemiparesis, Ataxia, Spastic tetraparesis ORPHA:833
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... OMIM:228930
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum... ORPHA:93333
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:177901
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thr... OMIM:250620
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... OMIM:602080
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Fair hair, Congenital hypothyroidism, Obesity, Intrauterine growth retarda... OMIM:614613
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... OMIM:184250
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Amelia, Short femur OMIM:601357
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... OMIM:112350
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Kyphomelic Dysplasia
Platyspondyly, Micromelia, Radial bowing, Flared metaphysis, Dumbbell-shaped humerus, Micrognathi... OMIM:211350
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Weight loss ORPHA:79238
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... OMIM:620076
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Obsessive-compulsive trait, Dysmetria, Disinhibitio... OMIM:300623
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Aplasia/Hypoplasia of the ulna, Split hand, Aplasia... OMIM:119100
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Urinary bladder sphincter dysfunction, Disinhibi... ORPHA:43
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... OMIM:615222
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Incoordination, Homocystinuria, Gait disturbance OMIM:236250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ne... ORPHA:90794
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 17
Male infertility OMIM:617214
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, 2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Valinemia
Hyperkinetic movements, Failure to thrive, Valinuria OMIM:277100
Acute Transverse Myelitis
Urinary incontinence, Spasticity, Urinary retention, Priapism, Urinary bladder sphincter dysfunct... ORPHA:139417
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Short stature, Bicornuate ... ORPHA:2578
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism, Short stature, Growth delay ORPHA:2528
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Babinski sign, Abnormal pyramidal sign, L... ORPHA:98
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema... ORPHA:397685
Brachydactyly, Type B1
Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Cutaneou... OMIM:113000
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial i... OMIM:607326
Leopard Syndrome 1
Multiple lentigines, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ov... OMIM:151100
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glycosuria, Elevated circulating cre... OMIM:137920
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Lethargy, Paralysis, Atax... OMIM:606777
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari... ORPHA:95619
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micrope... ORPHA:8
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Pigmentary retinopathy, Ovotestis,... OMIM:309801
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
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
Classic Galactosemia
Cataract, Hypoglycemia, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased... ORPHA:79239
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Overlapping toe, Decreased body weight, Hypogonadotropic hypog... OMIM:619420
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Short neck, Hypoplastic il... OMIM:617396
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Meningioma
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Hypothalamic hypothyro... ORPHA:2495
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Premature ovarian insufficiency, Unsteady gait, Secondary amenorrhea OMIM:620312
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Scorpion Envenomation
Mydriasis, Acute kidney injury, Ketonuria, Glycosuria, Priapism, Hemifacial spasm, Myoclonus, Tre... ORPHA:466677
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Small cervical vertebral bodies, Cervical spinal canal stenosis, Twelfth r... ORPHA:397715
Ivic Syndrome
Absent thumb, Short thumb, Short 1st metacarpal, Upper limb undergrowth, Carpal synostosis, Preax... OMIM:147750
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Genu valgum, Beaking of vertebral bodies, Abnormality of the knee, Tho... ORPHA:1159
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... ORPHA:100
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Cataplexy, Obesity, Restless legs, Attention ... ORPHA:2073
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora... ORPHA:93284
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Sialidosis Type 1
Aminoaciduria, Cataract, Abnormal form of the vertebral bodies, Urinary excretion of sialylated o... ORPHA:812
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... OMIM:240950
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Trident hand, Aplasia/hypoplasia of the extremities, Bra... OMIM:146000
Hsd10 Disease
Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile... ORPHA:391417
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Polymicrogyria, Streak ovary, Gray ma... OMIM:618820
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Fine hair, Sulfocysteinuria, Hemiplegia, Decreased urinary sulfate, Hypertonia, A... OMIM:272300
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Posterior capsular cataract OMIM:609195
Autosomal Recessive Spastic Paraplegia Type 46
Ataxia, Cataract, Broad-based gait, Difficulty walking, Infertility, Head tremor, Truncal ataxia,... ORPHA:320391
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small ep... OMIM:608728
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Tip-toe gait, Gait disturbance, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphos... OMIM:617404
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad thumb, Broad hallux OMIM:272200
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Alg9-Cdg
Rhizomelia, Flared metaphysis, Hypertrichosis, Low posterior hairline, Hypoplastic nipples, Narro... ORPHA:79328
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Small hand, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Meckel Syndrome 12
Intrauterine growth retardation, Antecubital pterygium, Vaginal atresia, Hypoplasia of the uterus... OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Microlissencephaly, Vaginal atresia, Hypoplasia of the uterus, S... OMIM:617914
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Short nec... OMIM:616897
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Small hand, Absence of pubertal development, Type II diabete... ORPHA:398079
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Decreased testicular size, Intrauterine growth retardation, Genu valgum, Hypoplasia of ... OMIM:619321
Galactosemia I
Aminoaciduria, Cataract, Galactosuria, Failure to thrive, Increased level of galactitol in urine,... OMIM:230400
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Increased level of gamma-aminobutyric acid in urine, Hyperkinetic moveme... OMIM:271980
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
1Q21.1 Microduplication Syndrome
Cataract, Failure to thrive, Cryptorchidism, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Subcapsular cataract, Polycystic ova... OMIM:268020
Hemochromatosis, Type 1
Alopecia, Azoospermia, Glucose intolerance, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigme... OMIM:235200
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Small hand, Premature graying of hair, ... OMIM:300845
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Male sexual dysfunction, Female sexual dysfunction, Progressive spastic par... ORPHA:100993
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Myotonic Dystrophy 2
Posterior subcapsular cataract, Frontal balding, Insulin insensitivity, Hypogonadism, Type II dia... OMIM:602668
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Kennedy Disease
Testicular atrophy, Gait disturbance, Decreased fertility, Erectile dysfunction ORPHA:481
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Syndactyly OMIM:241000
Severe Canavan Disease
Spasticity, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Lethargy, Elevated urine... ORPHA:314911
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Clinodactyly, Abnormal fema... ORPHA:95699
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Pes cavus, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodie... OMIM:252940
Cofs Syndrome
Cataract, Camptodactyly of finger, Hypogonadism, Intrauterine growth retardation, Abnormality of ... ORPHA:1466
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Cho... ORPHA:71277
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Low posterior hairline, Short 4th metacarpal, Sparse facial hair, Short sta... ORPHA:2183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of ... ORPHA:2377
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Attention deficit hyperactivity disorder, Ataxia, Kyphosis OMIM:620007
Cataract 42
Cataract, Developmental cataract OMIM:115900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small hand, Clinodactyly, Small nail, Oligozoospermia, Sparse hair, Short foot, Short metacarpal,... OMIM:614813
Adrenoleukodystrophy
Spastic paraplegia, Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Incoordination... OMIM:300100
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:230500
Sickle Cell Disease
Hematuria, Renal insufficiency, Priapism OMIM:603903
Tibial Hemimelia
Absent tibia OMIM:275220
Osteogenesis Imperfecta, Type X
Platyspondyly, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, ... OMIM:613848
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Short neck... OMIM:601559
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo... OMIM:268305
Atelosteogenesis, Type Iii
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Kn... OMIM:108721
Shox-Related Short Stature
Micrognathia, Genu valgum, Lower limb undergrowth, Tibial bowing, Ulnar radial head dislocation, ... ORPHA:314795
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... ORPHA:495875
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Cataract, Short toe, Hypogonadism, Decreased testicular size, Abnormal hip bone mo... ORPHA:127
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Cryptorchidism... ORPHA:1387
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Chorea, Athetosis, Choreoathetosis OMIM:309541
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb spasticity, Ataxia... OMIM:616756
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypoglycemia, Intrauterine growth retardation, Hypogonadotropic hypogonadi... ORPHA:48431
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Camptodactyly of finger, Bone cyst, Camptodactyly of toe, Coxa vara, Osteoporos... ORPHA:2848
Adult Krabbe Disease
Urinary incontinence, Broad-based gait, Spasticity, Tetraparesis, Frequent falls, Progressive spa... ORPHA:206448
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis, Decreased body weight, Small for gestational age, Waddling gait OMIM:618392
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda... ORPHA:1106
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nuclear cataract, Nail dysplasia, Trichodysplasia, Absent eyebrow, Short stature, Cam... OMIM:601701
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o... ORPHA:93316
Variegate Porphyria
Paralysis, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphobil... OMIM:176200
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Failure to thrive, Spastic diplegia, Dysmetr... OMIM:238970
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Clinodactyly, Premature graying of hair, Hypogonadism, ... OMIM:616200
Gapo Syndrome
Early balding, Keratoconus, Abnormal pelvic girdle bone morphology, Alopecia, Sparse eyebrow, Hyp... ORPHA:2067
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Talipes equi... OMIM:607143
Sickle Cell Anemia
Elevated circulating creatinine concentration, Priapism ORPHA:232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Metaphyseal irregularity, Knee dislocation, Narrow vertebral interpedicular distan... OMIM:618395
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Urinary incontinence, Resting tremor, Head tremor, Gait ataxia, Babin... ORPHA:458803
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Threoninemia
Hyperthreoninuria OMIM:273770
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Premature graying of hair, Decreased response to growth hormone stimulation test, Decre... ORPHA:280679
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... OMIM:308050
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short thumb, Intrauterine growth retardation, Cryptorchidism, Short metacarpal ORPHA:2489
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Flynn-Aird Syndrome
Cataract, Alopecia, Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, ... OMIM:136300
Glutathione Synthetase Deficiency
Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, Intention tremor, Ataxia OMIM:266130
Werner Syndrome
Small hand, Premature graying of hair, Slender build, Decreased fertility, Type II diabetes melli... ORPHA:902
Steinert Myotonic Dystrophy
Early balding, Insulin resistance, Male hypogonadism, Cholelithiasis, Posterior subcapsular catar... ORPHA:273
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Stickler Syndrome, Type Iv
Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora... OMIM:614134
Czech Dysplasia
Platyspondyly, Short toe, Intervertebral space narrowing, Irregular vertebral endplates, Flat cap... OMIM:609162
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Renal tubular dysfunction OMIM:606528
Popliteal Pterygium Syndrome
Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid scrotum, Cutaneous finger syndac... OMIM:119500
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Hypoglycemic seizures, Failure to thrive, Decreased response to gro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Hypoglycemic seizures, Failure to thrive, Decreased response to gro... ORPHA:71526
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sign, Hypertonia,... OMIM:617435
Temple Syndrome
Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim... ORPHA:254516
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Camptodactyly 1
Increased urinary taurine OMIM:114200
Lead Poisoning
Decreased male libido, Cranial hyperostosis, Abnormality of the menstrual cycle, Infertility, Dec... ORPHA:330015
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Bone spicu... OMIM:617547
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Spinocerebellar Ataxia Type 8
Ataxia, Spasticity, Limb ataxia, Gait ataxia, Rigidity, Dysphagia, Unsteady gait, Urinary inconti... ORPHA:98760
Carnosinemia
Carnosinuria OMIM:212200
Attrv30M Amyloidosis
Nephropathy, Weight loss, Impotence, Abnormal renal physiology ORPHA:85447
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Thick eyebrow, Low posterior hairline, Gait disturbance, Truncal obesity, Thick hair,... ORPHA:2429
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Short finger, Decreased testicular size, External genital hypoplasi... ORPHA:1867
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Small hand, Toe syndactyly, Hypogonadism, Decreased testicular size, Long ... OMIM:300882
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity, Abnormality of the kidney, Truncal obesity, Micropenis ORPHA:75858
Cdkl5-Deficiency Disorder
Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Gait disturbanc... ORPHA:505652
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Saccharopinuria
Hyperlysinuria, Gait ataxia, Tremor, Cystinuria, Citrullinuria, Spastic diplegia ORPHA:3124
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Short femoral neck, Clinodactyly, Proximal femoral met... OMIM:113500
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Frontal balding, Hypogonadism, Testicular atrophy OMIM:160900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Clinodactyly, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth... ORPHA:73272
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Renpenning Syndrome
Severe short stature, Hypospadias, Cataract, Alopecia, Abnormal hairshaft morphology, Growth dela... ORPHA:3242
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Abnormal pelvic girdle bone morphology, Osteopenia, Disproportionate short stature, Fai... OMIM:222765
Phenylketonuria
Phenylalaninuria, Lower limb spasticity, Tremor, Ataxia ORPHA:716
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral defor... OMIM:264180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hirsutism, Hyperactivity, Scoliosis, Kyphosis OMIM:300434
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Male hypogonadism, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxi... OMIM:300055
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Ataxia, Dysmetria, Elevated urine N-acetylaspa... OMIM:618384
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy OMIM:613710
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis, Scoliosis OMIM:605285
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasi... OMIM:226980
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Osteoporosis, Gonadal dysgenesis OMIM:233300
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal... ORPHA:1427
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Baralle-Macken Syndrome
Cataract, Spasticity, Inability to walk, Obesity, Hirsutism, Urinary incontinence, Kyphosis OMIM:619255
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Hypertryptophanemia
Aggressive behavior, Hypersexuality, Tryptophanuria OMIM:600627
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Loss of ambulation, Ataxia, Premature ovarian insufficiency, Unsteady gait, Scoliosis, K... OMIM:618124
Craniolenticulosutural Dysplasia
Sparse hair, Osteopenia, Posterior Y-sutural cataract, High iliac wing, Forehead hyperpigmentatio... OMIM:607812
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystinosis
Aminoaciduria, Nephropathy, Polydipsia, Failure to thrive, Renal insufficiency, Renal tubular dys... ORPHA:213
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Hyperkinetic movements, Lethargy, Gait... OMIM:236270
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Failure to thrive, Loss of ambulation, Premature ovarian insufficiency, Scoli... OMIM:619518
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Bifid scrotum, Microphallus, Ectrodactyly, Hypoplastic fingernail, Hypoglycemia... ORPHA:397590
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Robinow Syndrome
Webbed penis, Small scrotum, Short distal phalanx of finger, High anterior hairline, Small nail, ... ORPHA:97360
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Generalized hirsutism, Cachexia, Ataxia ORPHA:1933
Schinzel-Giedion Syndrome
Generalized hypertrichosis, Short distal phalanx of finger, Short 1st metacarpal, Annular pancrea... ORPHA:798
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Pseudohypoparathyroidism, Type Ia
Cataract, Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, ... OMIM:103580
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function,... ORPHA:500180
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Peters Plus Syndrome
Toe syndactyly, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the uterus, Short foo... ORPHA:709
Ophthalmomandibulomelic Dysplasia
Mesomelia, Lateral humeral condyle aplasia, Radial bowing, Fibular hypoplasia, Ulnar deviated clu... OMIM:164900
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Renal insufficiency, Lethargy, Lacticaciduria OMIM:619386
Peters-Plus Syndrome
Facial hypertrichosis, Square pelvis bone, Postnatal growth retardation, Cryptorchidism, Decrease... OMIM:261540
Woolly Hair Nevus
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... OMIM:156550
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Growth delay, Limited mobility of proximal interphalangeal join... OMIM:222300
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Flared metaphysis, Equinovarus deformity, Bowing of the legs, Aplasia/Hypop... ORPHA:2502
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Mevalonic Aciduria
Cataract, Nuclear cataract, Failure to thrive, Failure to thrive in infancy, Short stature OMIM:610377
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Cataract, Hypogonadism, Epiphyseal stippling, Short stature OMIM:302950
Pseudohypoparathyroidism, Type Ic
Cataract, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulatin... OMIM:612462
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Obesity, Cryptorchidism OMIM:601794
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Steppage gait, Lower limb spastici... OMIM:615290
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Microphthalmia, Syndromic 9
Severe short stature, Intrauterine growth retardation, Cryptorchidism, Short stature, Hypoplasia ... OMIM:601186
Methionine Malabsorption Syndrome
Aminoaciduria, Blue irides, White hair OMIM:250900
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Babinski sign, Ataxia, Impotence, Autonomic erectile dysfunction OMIM:169500
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... ORPHA:528
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Foot polydactyly, Short foot, Syndactyly, Cataract, Decreased testicu... OMIM:209900
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Long eyelashes, Nephrolithiasis, Cystinuria ORPHA:163693
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Ataxia, Dysphagia, Urin... ORPHA:99027
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Fibular ap... ORPHA:3320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low poste... ORPHA:99413
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low poste... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low poste... ORPHA:99226
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low poste... ORPHA:881
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Glutathionuria
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis OMIM:231950
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Toe syndactyly, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Crypt... OMIM:618958
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Premature ovarian ins... ORPHA:3156
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Hypergonadotropic hypogonadism OMIM:614307
Horner Syndrome, Congenital
Heterochromia iridis, Paralysis OMIM:143000
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Nuclear cataract, Pigmen... OMIM:613581
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy OMIM:611131
Winchester Syndrome
Hirsutism, Kyphosis, Corneal opacity OMIM:277950
Peroxisome Biogenesis Disorder 8B
Cataract, Spasticity, Spastic paraparesis, Tip-toe gait, Failure to thrive, Frequent falls, Gait ... OMIM:614877
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Short ribs,... OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... OMIM:300232
Argininemia
Progressive spastic quadriplegia, Diaminoaciduria, Hemiplegia/hemiparesis ORPHA:90
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral dimple OMIM:182940
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Lethargy, Impotence ORPHA:79230
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Hypopigmentation of the skin, Camptodactyly of finger, Azoospermia... ORPHA:261519
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Adrenomyeloneuropathy
Urinary incontinence, Spasticity, Frontal balding, Male sexual dysfunction, Female sexual dysfunc... ORPHA:139399
Kallmann Syndrome
Ataxia, Renal agenesis, Breast hypoplasia, Obesity, Paraplegia, Decreased fertility, Tremor, Hypo... ORPHA:478
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Hypertrichosis, Gait disturbance, Clonus, Kyphosis, Lo... OMIM:614898
Wagr Syndrome
Cataract, Obesity, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral m... ORPHA:893
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Spasticity, Kyphosis, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchid... ORPHA:2772
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... ORPHA:562
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Dysphagia, Hemiparesis OMIM:615750
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Cataract, Eye poking OMIM:204000
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Marinesco-Sjögren Syndrome
Severe short stature, Cataract, Hypogonadism, External genital hypoplasia, Avascular necrosis of ... ORPHA:559
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Loss of ability to walk in early childhood, Inability to walk OMIM:609560
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal gro... ORPHA:254531
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Kyphoscoliosis, Pes planus, Br... OMIM:620494
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Gracile Syndrome
Aminoaciduria OMIM:603358
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Male sexual dysfunction, Female sexual dysfunction, Progre... ORPHA:79093
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation of the skin, Infertility OMIM:602390
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Sarcosinemia
Tetraparesis, Hypersarcosinuria, Ataxia ORPHA:3129
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Young-Onset Parkinson Disease
Spasticity, Male sexual dysfunction, Female sexual dysfunction, Gait imbalance, Restless legs, Tr... ORPHA:2828
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Hypertonia, Lact... OMIM:604273
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal hair morphology, Subcapsular cataract ORPHA:414
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Cataract, Toe syndactyly, Microcornea, Finger synda... ORPHA:217346
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Scoliosis, Kyphosis OMIM:617087
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... OMIM:186500
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis, Hyperlordosis OMIM:614198
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Spasticity, Failure to thrive, Methylmalonic aciduria, Inability to walk, Hyperkin... OMIM:612073
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Decreased skull ossification, Testicular atrophy, Clinodactyly of the 5th finger,... OMIM:601163
Hemochromatosis, Type 4
Cataract, Impotence OMIM:606069
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Sho... OMIM:184095
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Spastic paraplegia, Urinary incontinence, Postural tremor, Limb dysmetria, Babinski sig... OMIM:270800
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Radioulnar synostosis, Talipes equinovarus... OMIM:134780
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid p... ORPHA:485
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Hypertrichosis,... OMIM:246200
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Gait distu... ORPHA:93256
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Primar... OMIM:614880
Multiple System Atrophy 1, Susceptibility To
Tremor, Iris atrophy, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradyk... OMIM:146500
4H Leukodystrophy
Cataract, Decreased response to growth hormone stimulation test, Abnormality of thyroid physiolog... ORPHA:289494
Hyperparathyroidism, Transient Neonatal
Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Short long bone, Short femur OMIM:618188
Limb-Mammary Syndrome
Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, Breast aplasia, Oligodactyly, Aplasia of... ORPHA:69085
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Precocious ... ORPHA:769
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Small scrotum, Cataract, Camptodactyly of finger, Intrauterine growth retardation, D... OMIM:610756
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Alopecia, Pigmentary retin... OMIM:240300
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Hip dislocation, Accessory carp... OMIM:150250
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ata... ORPHA:227510
Ulnar-Mammary Syndrome
Decreased fertility, Cryptorchidism, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the ul... ORPHA:3138
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:2839
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Nail dystrophy, Reticular hyperpigmentation, Testicular atrophy, Shor... OMIM:618165
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Elevated circulating creatinine concentration, Weight loss, Oligozoospermia, Abnorm... ORPHA:85450
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cataract, Failure to thrive, Cryptorchidism, Second metatarsal posteriorly pl... OMIM:214150
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Hypertrichosis, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys ORPHA:85317
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... OMIM:258315
Lipoyltransferase 1 Deficiency
Abnormality of extrapyramidal motor function, Lacticaciduria, Alaninuria, Spastic tetraparesis, H... OMIM:616299
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypos... ORPHA:1381
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Hip dislocation, Finger syndactyly, Rudimentary fibula, Micrognathia, Butte... ORPHA:958
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Myasthenic Syndrome, Congenital, 25, Presynaptic
Dysphagia, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Insulin re... ORPHA:813
Lig4 Syndrome
Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Astigmatism, Low anterior hairline,... OMIM:606593
Mucopolysaccharidosis, Type Iva
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Pointed p... OMIM:253000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Postnata... OMIM:614732
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Nuclear cataract, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, R... ORPHA:1010
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact... OMIM:263520
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Lower limb asymmetry, Epiphyseal stippling, Kyphoscoliosis, Talip... ORPHA:35173
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Failure to thrive, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Squalene Synthase Deficiency
Slender long bone, Polymicrogyria, Bilateral cryptorchidism, Failure to thrive in infancy, Intrau... OMIM:618156
Marinesco-Sjogren Syndrome
Spasticity, Failure to thrive, Limb ataxia, Gait ataxia, Developmental cataract, Ataxia, Scoliosi... OMIM:248800
Bloom Syndrome
Insulin resistance, Hypopigmentation of the skin, Paronychia, Growth delay, Azoospermia, Intraute... ORPHA:125
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Abnormal hair morphology, Premature ... ORPHA:79474
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Difficulty walking, Obesity, Lower limb spasticity, A... ORPHA:464282
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnormal pyramidal... OMIM:105210
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Amenorrhea OMIM:604250
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypoplastic nipples, Sparse hair, Hypogonadism OMIM:273400
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Ca... ORPHA:102
Dermotrichic Syndrome
Aminoaciduria, Nail dystrophy, Abnormal vertebral morphology ORPHA:99688
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Hypogonadism, Abnormality of the thyroid gland, Premature ovarian insufficiency, Diabet... OMIM:609286
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Frequent falls, Postural tremor, Restless legs, Babinski sign, Steppage gait, Vocal ... ORPHA:99947
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Werner Syndrome
Cataract, Hypogonadism, Alopecia of scalp, Short stature, Osteoporosis, Reduced bone mineral dens... OMIM:277700
Silver-Russell Syndrome 3
Small hand, Postnatal growth retardation, Melanocytic nevus, Clinodactyly of the 5th finger, Decr... OMIM:616489
48,Xxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Hypogonadism, Decreased testicular size, Azoospermi... ORPHA:96263
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Decreased sk... ORPHA:93267
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, Opacification of the corn... OMIM:230650
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Ectopia lentis, Failure to thrive, Biconcave vertebral bodies, Kyphoscoliosis, Br... OMIM:236200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa, Abnormal hair quantity, Ataxia ORPHA:23
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Dysuria, Elevated circulating creatinine concentration, Unilateral renal hyp... ORPHA:49041
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Postnatal gro... ORPHA:96184
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Cortical cataract OMIM:616468
49,Xxxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Hypogonadism, Decreased testicular size, Azoospermi... ORPHA:96264
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Postna... OMIM:616113
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc... OMIM:610743
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Reduced sperm motility, Proximal femoral metaphyseal irregularity, Narrow greater sci... OMIM:602271
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lum... OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Cerebral palsy, Thick eyebrow, Hyperactivity, Hypertonia, Scolio... OMIM:615834
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Ck Syndrome
Slender build, Aggressive behavior, Hyperlordosis, Hyperactivity, Scoliosis, Kyphosis OMIM:300831
Short Syndrome
Insulin resistance, Cataract, Radial deviation of finger, Slender long bone, Clinodactyly, Megalo... OMIM:269880
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... OMIM:615962
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Short tibia, Finger syndactyly, Complete duplication of hallux phalanx,... ORPHA:2751
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Long eyelashes, Nephrolithiasis, Polyphagia, Cystinuria,... OMIM:606407
Martsolf Syndrome 1
Cataract, Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral ... OMIM:212720
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Clonus, Kyphosis, Failure to thrive ORPHA:319199
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Melanocytic nevus, Cryptorchidism, Oligozoospermia OMIM:314300
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail band... OMIM:601675
Warburg Micro Syndrome 3
Small scrotum, Cataract, Microcornea, Polymicrogyria, Hypertrichosis, Decreased testicular size, ... OMIM:614222
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ... ORPHA:79085
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Ectopia lentis, Increased urinary hypoxanthin... OMIM:252150
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Spasticity, Failure to thrive, Incoordination, Clonus, Tetraplegia, Ataxia, Chore... OMIM:616034
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, Abnormal eyebrow ... ORPHA:168569
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Short... ORPHA:96334
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Failure to thrive, Methylmalonic aciduria, Lethargy, Gait disturbance... OMIM:250940
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of h... ORPHA:2221
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Inability to walk, Thick eyebrow, Polyphagia... OMIM:615547
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Short Stature-Micrognathia Syndrome
Small scrotum, Cataract, Rhizomelia, Broad femoral neck, Failure to thrive, Intrauterine growth r... OMIM:617164
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Ca... ORPHA:98933
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Renal insuffici... ORPHA:79101
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys OMIM:300861
Jaberi-Elahi Syndrome
Cataract, Broad-based gait, Sparse eyebrow, Kyphosis, Failure to thrive, Fine hair, Inability to ... OMIM:617988
Leigh Syndrome
Spasticity, 3-Methylglutaconic aciduria, Ataxia, Nephrotic syndrome, Dysphagia, Choreoathetosis, ... ORPHA:506
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Micrognathia, Genu... OMIM:616145
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Clitoral hypertrophy, Pigmentary retinopathy, Failure to thrive, Intraut... OMIM:214110
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Astigmatism, Low anterior hairline, Hyperlordosis, Compulsive behaviors, Scoliosis, ... OMIM:615761
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Microphthalmia With Limb Anomalies
Finger aplasia, 2-3 toe cutaneous syndactyly, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ... OMIM:105650
D-Glyceric Aciduria
Aminoaciduria, Spasticity, Failure to thrive, Myoclonus, Appendicular spasticity, Opisthotonus, T... OMIM:220120
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Low anterior hairline, Thic... OMIM:618658
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Intrauterine growth retardation, Zonular cataract, Neonatal hypoglycemia, G... OMIM:616271
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Short stature, Cataract, Nuclear cataract, Growth delay OMIM:608885
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Congenital hip dislocation, Cataract, Microcornea, Shoulde... OMIM:255800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal irregularity, Metaphyseal cupping, Flared metaphysis, Shor... OMIM:608940
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Dysphagia OMIM:300857
Whipple Disease
Ataxia, Polydipsia, Myoclonus, Cachexia, Abnormal pyramidal sign, Anorexia, Erectile dysfunction ORPHA:3452
7Q11.23 Microduplication Syndrome
Horizontal eyebrow, Growth delay, Aplasia/hypoplasia of the uterus, Sparse anterior scalp hair, S... ORPHA:96121
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Warburg Micro Syndrome 2
Small scrotum, Cataract, Microcornea, Polymicrogyria, Postnatal growth retardation, Overlapping t... OMIM:614225
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Postaxial foot polydactyly, Hyperglycemia, Obesity, Astigmatism... OMIM:615986
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Camptodactyly of finger, Cervical vertebral dysplasia, Short humerus, Kyphoscol... ORPHA:3455
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of the capi... OMIM:253010
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Flynn-Aird Syndrome
Cataract, Alopecia, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la... ORPHA:435660
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Micropenis, Scoliosi... OMIM:301900
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Nail dyspla... ORPHA:139471
Sandhoff Disease
Ataxia, Urinary incontinence, Spasticity, Fasciculations, Increased urinary N-acetylglucosamine-r... OMIM:268800
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Hypoplastic 5th ... ORPHA:955
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs OMIM:114000
Zellweger Syndrome
Cataract, Clitoral hypertrophy, Failure to thrive, Polymicrogyria, Epiphyseal stippling, Primary ... ORPHA:912
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Gait ataxia, Tremor, Aggressive behavior, Hyperactivity, Abdominal obesity, Micrope... OMIM:300354
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amen... OMIM:157640
Prune Belly Syndrome
Congenital hip dislocation, Failure to thrive, Abnormality of the uterus, Decreased testicular si... ORPHA:2970
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Pseudopseudohypoparathyroidism
Cataract, Obesity, Pseudohypoparathyroidism, Brachydactyly, Short stature, Osteoporosis, Short me... OMIM:612463
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Hypopigmentation of hair, Failure to thrive ORPHA:70472
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Skin-picking, Aggressive behavior, Kyphosis OMIM:618512
Cystinosis, Nephropathic
Hematuria, Weight loss, Dysphagia, Male infertility, Aminoaciduria, Generalized aminoaciduria, Ma... OMIM:219800
Dent Disease
Aminoaciduria, Cataract, Chronic kidney disease, Renal phosphate wasting, Focal segmental glomeru... ORPHA:1652
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Short femur OMIM:617798
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Phocomelia, Schinzel Type
Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i... ORPHA:2879
Hyperlysinemia
Poor motor coordination, Hyperlysinuria, Tip-toe gait, Failure to thrive, Thin eyebrow, Dysmetria... ORPHA:2203
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar... ORPHA:90695
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Hypoglycemia, Abnormal female external g... ORPHA:90790
Osteogenesis Imperfecta, Type Iii
Slender long bone, Micrognathia, Protrusio acetabuli, Biconcave vertebral bodies, Tibial bowing, ... OMIM:259420
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, T... OMIM:307800
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Sparse hair, Cor... ORPHA:1839
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Cholelithiasis, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus ORPHA:79095
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Ataxia OMIM:603585
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Spasticity, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, Gait ata... OMIM:620089
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance, Conjunctival telangiectasia, Tryptophanuria OMIM:276100
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Cryptorchidism, Low posterior hairline, Radioulnar synostosis, Short hallux, Ir... OMIM:194190
Omodysplasia 2
Short 1st metacarpal, Broad femoral neck, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Tetragametic Chimerism
Clitoral hypertrophy, Hypopigmented skin patches, Bifid scrotum, Abnormality of the ovary, Abnorm... ORPHA:199310
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh... OMIM:271665
Koolen-De Vries Syndrome
Cataract, Cryptorchidism, Overfriendliness, Arachnodactyly, Hypothyroidism, Short stature, Abnorm... ORPHA:96169
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Abnormal cornea morphology, Polyd... ORPHA:411634
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Small nail, Upper limb undergrowth, Hypertrichosis, Crypto... OMIM:614527
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no... OMIM:210720
Hypomelanosis Of Ito
Cataract, Alopecia, Scoliosis, Iris coloboma, Kyphosis OMIM:300337
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, 11 pairs of ribs, Micrognathia, Femoral bowing... ORPHA:140
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Reticulated skin pigmentation, Growth delay, Nail dystrophy OMIM:613987
Bloom Syndrome
Hypopigmentation of the skin, Growth delay, Hypertrichosis, Postnatal growth retardation, Azoospe... OMIM:210900
Micro Syndrome
Cataract, Microcornea, Pachygyria, Intrauterine growth retardation, Cryptorchidism, Abnormality o... ORPHA:2510
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul... ORPHA:18
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Kyphosis, Failure to thrive OMIM:618237
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis, Kyphosis, Ataxia OMIM:141300
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Patellar aplasia, Cryptorchidism, Premature ovarian insufficiency, Sparse hair,... ORPHA:221008
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Dystonia-Deafness Syndrome 1
Cataract, Pseudobulbar paralysis, Kyphoscoliosis, Loss of ambulation, Dysphagia, Small for gestat... OMIM:607371
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding, ... OMIM:616395
Harrod Syndrome
Cataract, Abnormal pelvic girdle bone morphology, Hypopigmented skin patches, Failure to thrive, ... ORPHA:2115
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Iris coloboma, Widow's peak, Wide anterior fontanel ORPHA:2143
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Nephropathy, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Ataxia OMIM:249270
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Low anterior hairline, Pr... ORPHA:261222
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Decreased response to growth hormone stimulation test, Genu valgum, Thick eyebrow, Deve... ORPHA:436174
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Cataract, Failure to thrive, Intrauterine growth retardation, Cryptor... OMIM:219150
Pseudohypoparathyroidism Type 1C
Short metacarpal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd me... ORPHA:79444
Pudendal Neuralgia
Dysuria, Dyspareunia, Erectile dysfunction, Pollakisuria ORPHA:60039
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Autosomal Recessive Spastic Paraplegia Type 5A
Cataract, Spastic paraplegia, Abnormality of the urinary system, Limb ataxia, Ankle clonus, Babin... ORPHA:100986
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hypopigmented skin patches, Cry... ORPHA:84
Argininosuccinic Aciduria
Aminoaciduria, Dry hair, Failure to thrive, Trichorrhexis nodosa, Oroticaciduria, Brittle hair, L... OMIM:207900
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Slender long bone, Congenital adrenal hyperplasia, Intrauterine growth reta... ORPHA:96181
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Corneal erosion, Spastic diplegia ORPHA:816
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Osteoporosis, Cataract OMIM:601811
Sialidosis Type 2
Nephropathy, Ataxia, Tremor, Corneal opacity, Kyphosis ORPHA:87876
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Cataract, Disproportionate short-limb short stature, Clinodactyly, Intrauteri... OMIM:616541
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Periodic hypokalemic paresis, Abnormality of the menst... ORPHA:91347
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Micrognat... OMIM:200980
Myasthenic Syndrome, Congenital, 22
Cystinuria, Waddling gait OMIM:616224
Dent Disease 1
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Dyskeratosis Congenita
Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of the urethral m... ORPHA:1775
Prader-Willi Syndrome Due To Translocation
Small hand, Clinodactyly, Overlapping toe, Anterior pituitary hypoplasia, Short foot, Abnormal so... ORPHA:177907
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Impotence, Oligomenorrhea ORPHA:91354
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of the uterus, Premature gray... ORPHA:3440
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Ketonuria, Failure to thrive, Cerebral palsy, Organic aciduria, Opisth... OMIM:210210
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Kleefstra Syndrome 2
Self-injurious behavior, Thick eyebrow, Scoliosis, Kyphosis OMIM:617768
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Spasticity, Spastic paraplegia, Urinary retention, Pseudobulbar paralysis, Tremor, Babi... OMIM:616586
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Failure to thrive, Glyco... ORPHA:47159
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hypogonadism, Obesity, Tremor, Aggressive behavior, Short neck, Cachexia, Abnor... ORPHA:85293
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Vertebral segmentation defect, Low posterior hairli... ORPHA:2617
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse ... ORPHA:634
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Femoral... OMIM:610915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Frequent falls, Difficulty walking, Exercise-induced myoglobinuria, Hyperlordosis, ... OMIM:607155
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Cataract, Craniofacial hyperostosis, Abnormal epip... ORPHA:2588
Pseudohypoparathyroidism Type 1A
Short metacarpal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd me... ORPHA:79443
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Craniofacial hyperostosis, Alopecia, Keratitis, Hypopigmented skin patch... ORPHA:910
Gangliocytoma
Decreased female libido, Amenorrhea, Polyphagia, Scoliosis, Impotence ORPHA:251937
Kapur-Toriello Syndrome
Cataract, Short thumb, Camptodactyly of finger, Polymicrogyria, Pachygyria, Overlapping fingers, ... OMIM:244300
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abn... ORPHA:649
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Short neck, Scoliosis, Kyphosis OMIM:611890
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Akinesia, Cogwheel rigidity, Rigidity, Babinski sign, Abno... ORPHA:97349
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W... OMIM:613266
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Neu-Laxova Syndrome
Cataract, Abnormal cortical gyration, Osteopenia, Rickets, Polymicrogyria, Hypogonadism, Pterygiu... ORPHA:2671
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Abnormal thumb morphology, Cryptorchidism, Arac... ORPHA:2719
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... OMIM:610489
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Short neck, Pes planu... OMIM:300990
Zimmermann-Laband Syndrome
Cataract, Facial hypertrichosis, Overtubulated long bones, Hypoplastic fingernail, Long eyelashes... ORPHA:3473
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol... ORPHA:672
Pelizaeus-Merzbacher Disease
Spasticity, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Gait distu... ORPHA:702
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Toxin-Mediated Infectious Botulism
Mydriasis, Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia ORPHA:230800
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Polydipsia, Failure to thrive, Glyco... ORPHA:411629
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Occipital Horn Syndrome
Platyspondyly, Aplastic clavicle, Hip dislocation, Humerus varus, Genu valgum, Avascular necrosis... ORPHA:198
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Cryptorchidism, Abnormality of skin pigmentation, Ab... OMIM:227650
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Metaphyseal irregularity, Hypoplasia... OMIM:616007
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Frequent falls, Difficulty walking, Hyperlordosis, Dysphagia, Vertebral fusion, Sco... OMIM:606612
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Spastic tetraplegia, Failure to thrive, Myoclonus, Clonus, Scoliosis, Small for ge... OMIM:619055
Meckel Syndrome 14
Postaxial foot polydactyly, Decreased calvarial ossification, Bowing of the long bones, Aplasia o... OMIM:619879
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Block vertebrae, Hypoplasia of the odontoid process, Abnormal pelvic girdle... OMIM:272460
Cockayne Syndrome Type 2
Male hypogonadism, Difficulty walking, Gait disturbance, Lower limb spasticity, Limb hypertonia, ... ORPHA:90322
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid gland, ... ORPHA:2969
Poems Syndrome
Hypertrichosis, Hypogonadism, Leukonychia, Sclerotic vertebral endplates, Weight loss, Erectile d... ORPHA:2905
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Hemivertebrae, Vertebral fusion, Vertebral hypoplasia OMIM:206900
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Spasticity, Fasciculations, Dysmetria, Ankle clonus, Babinski sign, Clumsin... ORPHA:88644
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognath... OMIM:600383
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Ectopia lentis, Increased urinary hypoxanthin... OMIM:252160
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypopigmentation of hair... OMIM:618541
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Hypospadias, Failure to thrive, Frequent falls, Opacification of the cor... OMIM:214100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Large for gestational age, Ketonuria, Failure to thrive OMIM:614520
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Inability to walk, Tremor, Babinski sign, Hyperlordosis, Torticollis, Hypertonia, ... OMIM:128100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Severe postnatal... ORPHA:2237
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr... ORPHA:3453
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Finger swelling, Rickets, Failure to thrive, Camptodactyly of finger, Osteomalacia... OMIM:309000
Argininemia
Spastic paraparesis, Oroticaciduria, Progressive spastic quadriplegia, Hyperactivity, Anorexia, S... OMIM:207800
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Clonus, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria,... ORPHA:534
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Obsessive-compulsive trait, Skin-picki... ORPHA:500055
8P11.2 Deletion Syndrome
Microcornea, Growth delay, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadi... ORPHA:251066
Isovaleric Acidemia
Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level OMIM:243500
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Inappropriate laughter, Hypopigment... ORPHA:411515
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Osteopenia, Fine hair, Intrauterine growth retardation, Cryptorchidism, Osteoporosis, S... OMIM:614438
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Hand-Foot-Genital Syndrome
Small nail, Ulnar deviation of the 2nd finger, Chordee, Short hallux, Hypospadias, Short 5th fing... OMIM:140000
Juvenile Sialidosis Type 2
Cataract, Spasticity, Abnormal form of the vertebral bodies, Myoclonus, Dysmetria, Loss of ambula... ORPHA:93399
8Q24.3 Microdeletion Syndrome
Short 5th finger, Congenital hip dislocation, Microretrognathia, Micromelia, Finger clinodactyly,... ORPHA:508488
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Sparse scalp hair, Postnatal growth retard... OMIM:135900
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Decreased testicular size, Postnatal growth retardation, Intrauterine growth retard... ORPHA:93325
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Recurrent hypoglycemia, Postnatal growth retardation, Dysmenorrhea, Polyc... ORPHA:79240
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Spastic tetraplegia OMIM:615330
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Nephropathy, Nephrocalcinosis, Failure to thrive, Reduced renal corticomedullary d... OMIM:208085
4Q21 Microdeletion Syndrome
Self-injurious behavior, Long eyelashes, Tremor, Generalized hirsutism, Short neck, Scoliosis, Mo... ORPHA:238750
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Preaxial hand po... ORPHA:96179
Zimmermann-Laband Syndrome 2
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Widow's peak, Syn... OMIM:616455
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Nephrolithiasis, Dysphagia, Kyphosis, Hypergonadotropic hypogonadism, Neuropathi... ORPHA:352447
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Micrognathia, Long fingers, Bilatera... OMIM:619512
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma ORPHA:523
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypog... ORPHA:293978
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Triploidy
Iris coloboma, Cataract, Finger syndactyly, Intrauterine growth retardation, Cryptorchidism, Decr... ORPHA:3376
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Postnatal growth retardation, Brachydactyly, Zonular cataract, Short stature ORPHA:168577
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Abnormal female external genitalia morphology, Postnatal... ORPHA:235
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Srd5A3-Cdg
Cataract, Hypertrichosis, Ataxia, Abnormal sacrum morphology, Kyphosis ORPHA:324737
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar... ORPHA:95494
Rett Syndrome
Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Gait apraxia, Truncal at... OMIM:312750
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Foodborne Botulism
Mydriasis, Urinary retention, Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia ORPHA:228371
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Cafe-au-lait spot, Growth delay OMIM:615234
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Frontal upsweep of hair, Astigmatism, Hydronephrosis, Scoliosis, Kyphosis OMIM:619797
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Hypogonadism, Freckling, Short stature OMIM:610651
Gm1 Gangliosidosis
Platyspondyly, Spasticity, Abnormal form of the vertebral bodies, Failure to thrive, Decerebrate ... ORPHA:354
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Myopic astigmatism, Inability to walk, Obesity, Thick eyebrow, Thoracolumbar scoliosi... OMIM:618443
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, 11 pairs of ribs, Hypoplasia of proxi... OMIM:210600
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic sacrum, Severe limb shortening, Mi... OMIM:200600
Progeroid Short Stature With Pigmented Nevi
Cataract, Allergic conjunctivitis, Chordee, Delayed puberty, Short stature, Premature ovarian ins... OMIM:176690
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Low posterior hairline, Short neck, Abnormal hair pattern, Spina bifida occulta, Hy... ORPHA:2983
White-Sutton Syndrome
Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Broad foot, Short neck, Brachydactyly OMIM:616364
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Mesomelic leg shortening, Preaxial f... OMIM:603671
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Clinodactyly, Tibial torsion, Decreased response... OMIM:602782
Pure Autonomic Failure
Dysuria, Urinary incontinence, Impotence ORPHA:441
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cataract, Bifid scrotum, Cryptorchidism, Hypothyroidism, Short stature, Hypoplasia of penis ORPHA:85321
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp... ORPHA:2720
Sheehan Syndrome
Sparse pubic hair, Breast hypoplasia, Obesity, Decreased female libido, Amenorrhea, Sparse axilla... ORPHA:91355
Propionic Acidemia
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Lethargy, Limb hyp... OMIM:606054
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Bilateral cryptorchidism, Hypogonadism, Osteolysis, Hip contracture, Anonychia, Narrow ... ORPHA:3042
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Short humerus, Short femur OMIM:618367
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Cerebellofaciodental Syndrome
Cataract, Sparse eyebrow, Slender long bone, Proximal femoral epiphysiolysis, Fine hair, Genu val... OMIM:616202
Geroderma Osteodysplasticum
Platyspondyly, Hyperextensibility of the finger joints, Femoral bowing, Biconcave vertebral bodie... OMIM:231070
Cowden Syndrome 6
Varicocele, Cataract, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hyd... OMIM:615109
Cowden Syndrome
Abnormal penis morphology, Cataract, Follicular thyroid carcinoma, Hypopigmented skin patches, Ab... ORPHA:201
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Cryptorchidism, Generalized hirsutism, Radioulnar synostosis, Hypopla... ORPHA:199
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Lethargy, Methylmalonic aciduria, Failure to thrive OMIM:614857
Cockayne Syndrome A
Dry hair, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Sparse hai... OMIM:216400
Cousin Syndrome
Hypoplastic ischia, Hypoplastic scapulae, Rhizomelia, Hypoplastic iliac wing, Fibular aplasia, Mi... OMIM:260660
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response,... OMIM:609541
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Neurogenic bladde... OMIM:619780
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Lethargy, Medium chain dicarboxylic aciduria, Elevated urinary 7-hydroxyoctanoic... OMIM:201450
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Short neck, Gait disturbance, Hyperlordosis, Vocal cord paralysi... ORPHA:98863
Cowden Syndrome 5
Cataract, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testi... OMIM:615108
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Para... ORPHA:449285
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Synophrys ORPHA:2471
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Cataract, Disproportionate short-limb short stature, Pterygium, Cryptorchid... OMIM:224410
Bruck Syndrome 2
Platyspondyly, Hydroxyprolinuria, Pterygium OMIM:609220
Ullrich Congenital Muscular Dystrophy
Frequent falls, Short neck, Torticollis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Pigmentary retinopathy, Cryptorchidism, Short stature OMIM:300578
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level... ORPHA:94089
Cockayne Syndrome Type 1
Cataract, Male hypogonadism, Pigmentary retinopathy, Failure to thrive, Postnatal growth retardat... ORPHA:90321
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Failure to thrive, Cystathioninuria, Methylmalonic aciduria, Incoordination, Leth... OMIM:277380
Fucosidosis
Spasticity, Spastic tetraplegia, Failure to thrive, Abnormal pyramidal sign, Mucopolysacchariduri... ORPHA:349
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism, Aplasia/Hypoplasia of the patella ORPHA:1069
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Obesity, Re... OMIM:612469
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short humerus, Short femur ORPHA:17
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Poor fine motor coordination, Tip-toe gait, Difficulty walking, Inability to walk, Trem... ORPHA:99956
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Small for gestational age, Fine hair, Failure to thrive in infancy, Ankle clonu... OMIM:618891
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Thick eyebrow, Frontal upsweep of hair, Tremor, Low anterior hairline, H... OMIM:617061
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Scoliosis, Kyphosis ORPHA:2598
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... OMIM:600373
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Failure to thrive, Cystathioninuria, Methylmalo... OMIM:277400
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Developmental cataract, Pulverulent cataract OMIM:193220
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Hypercalciuria, Polyuria OMIM:239200
African Trypanosomiasis
Difficulty walking, Hemiparesis, Weight loss, Urinary incontinence, Choreoathetosis, Alopecia, In... ORPHA:3385
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... ORPHA:508533
Cataract 47
Cataract, Microcornea OMIM:612018
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
D-Glyceric Aciduria
Myoclonus, Hyperglycinuria, Spasticity, Chorea ORPHA:941
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Kyphosis ORPHA:1548
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Spasticity, Renal hypoplasia, Nephrocalcinosis, Inability to walk, Renal... OMIM:617913
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Clubbing, Male infertility ORPHA:244
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu... ORPHA:2088
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence OMIM:608088
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Gitelman Syndrome
Hypocalciuria, Polydipsia, Failure to thrive, Renal magnesium wasting, Enuresis, Nocturia, Salt c... OMIM:263800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Hyperlordosis, Vocal cord paralysis, Waddling ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Hyperlordosis, Vocal cord paralysis, Waddling ... ORPHA:98853
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Hypertonia, Scoliosis, Kyphosis, Keratoglobus OMIM:108145
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, High iliac wing, Coarse hair, Decreased skull ossification, Hyperpi... ORPHA:50814
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Generalized aminoaciduria, Chronic kidney disease, Glycosuria, Low-molec... ORPHA:3337
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Biconcave vertebral bodies, Hirsutism, Nephrolithiasis, ... OMIM:219090
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Cataract, Finger clinodactyly, Megalocornea, Breast hypoplasia, Long eyelashes, Cr... OMIM:601353
Fanconi Anemia, Complementation Group L
Absent thumb, Growth delay, Intrauterine growth retardation, Aplasia of the uterus, Absent radius... OMIM:614083
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Lon... ORPHA:3063
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Gait imbalance, Ankle clonus, Clumsiness, Dysphagia, Vocal cord paralysis,... OMIM:211530
Cowden Syndrome 1
Varicocele, Cataract, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, H... OMIM:158350
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Tip-toe gait, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:536516
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Obesity, Short neck, Hypoplasia of penis, Kyphosis ORPHA:3409
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobulinuria, Hy... OMIM:227810
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Osteopenia, Overlapping toe, Decreased body weight, Ara... OMIM:605822
Iniencephaly
Rhizomelia, Absent vertebra, Talipes equinovarus, Hyperlordosis, Mandibular aplasia, Rocker botto... ORPHA:63259
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Machado-Joseph Disease Type 1
Spasticity, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Babinski sign,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Babinski sign,... ORPHA:276241
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Failure to thrive, Gait ataxia, Self-mutilation, Tremor, Aggressive behavio... ORPHA:476126
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Weight... ORPHA:94080
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... OMIM:143095
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Spastic paraparesis, Failure to thrive, Hemiparesis, Lethargy, Gait disturbance, ... ORPHA:395
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,... ORPHA:163746
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation... ORPHA:3103
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, T... ORPHA:64
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Clitoral hypertrophy, Long penis, Central hypothy... ORPHA:508
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria, Ataxia ORPHA:2116
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the u... ORPHA:457284
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Canavan Disease
Opisthotonus, Abnormal pyramidal sign, Elevated urine N-acetylaspartic acid level OMIM:271900
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Short stature OMIM:610125
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Slender build, Myoclonus, Self-mutilation, Hydronephrosis, Aggressive behavior, Babin... ORPHA:364028
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Failure to thrive, Inability to walk, Corneal scarring, Impaired oral ... ORPHA:404454
Gorlin Syndrome
Cataract, Melanocytic nevus, Cryptorchidism, Arachnodactyly, Hypogonadotropic hypogonadism, Ovari... ORPHA:377
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Vici Syndrome
Cataract, Albinism, Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Postnatal g... OMIM:242840
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Hirsutism, Cystic... OMIM:608594
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Chops Syndrome
Cataract, Coarse hair, Long eyelashes, Thick eyebrow, Obesity, Cryptorchidism, Brachydactyly, Thi... OMIM:616368
Alpha-Mannosidosis
Cataract, Short neck, Corneal opacity, Scoliosis, Kyphosis ORPHA:61
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Fliedner-Zweier Syndrome
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydron... OMIM:620511
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Babinski sign, Cachexia, Paralysis, Dysphagia, Agitation ORPHA:803
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Vaginal atresia, ... ORPHA:3301
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... OMIM:269700
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenor... OMIM:603457
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Small for gestational age, Failure to thrive, Fair hair, Recurre... OMIM:610443
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Small nail, Decreased testicular size, External genital hypoplasia, Nail dy... OMIM:610644
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Spastic ataxia, Lethargy, Methylmalonic aciduria OMIM:277410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Cafe-au-lait spot... ORPHA:300298
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Cataract, Gait ataxia, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:88628
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Corneal scarring, Abnormality of hair pigmentation, Arachnodactyly... ORPHA:90354
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Inability to walk, Short neck, Oculomotor apraxia, Urinary incontinence, Scoliosis, D... OMIM:301041
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Missing ribs, Aplasia/hypo... ORPHA:2769
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Cortical cataract OMIM:618613
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Multicystic kidney dysplasia, Failure to thrive, Fine hair, Supernumerary nipple,... ORPHA:261349
Transketolase Deficiency
Self-injurious behavior, Cataract, Increased level of ribose in urine, Renal cyst, Attention defi... ORPHA:488618
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Postnatal growth retardat... ORPHA:1655
Hermansky-Pudlak Syndrome
Menometrorrhagia, Cataract, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism,... ORPHA:79430
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Long eyelashes, 2-3 toe ... OMIM:615877
Sirenomelia
Absence of the sacrum, Sirenomelia, Aplasia/Hypoplasia of the radius ORPHA:3169
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis, Waddling gait OMIM:255200
Ciliary Dyskinesia, Primary, 12
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Immotil... OMIM:612650
Mosaic Trisomy 9
Hypoplastic female external genitalia, Small nail, Abnormality of the uterus, Finger clinodactyly... ORPHA:99776
Uruguay Faciocardiomusculoskeletal Syndrome
Difficulty walking, Thick eyebrow, Kyphoscoliosis, Synophrys, Scoliosis, Kyphosis, Waddling gait OMIM:300280
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Inguinal freckling, Lisch nodules, Juvenile posterior s... OMIM:101000
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Mucopolysacchariduria, Hyperl... ORPHA:582
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Cataract, Generalized hirsutism, Hypothyroidism, Anonychia, Brach... ORPHA:1563
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Hypercalciuria, Increased urine deoxypyridinoline level, Ky... OMIM:239000
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Mend Syndrome
Cataract, Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Cryptorchidism, ... ORPHA:401973
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra... ORPHA:2238
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Hip dislocation OMIM:300322
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Clinodactyly, Slender long bone, Long foot, Micrognathia, Short humerus, Talipe... OMIM:264090
Wilson Disease
Aminoaciduria, Sunflower cataract, Poor motor coordination, Glycosuria, Hand tremor, Kayser-Fleis... OMIM:277900
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Polymicrogyria, Alopecia of scalp, Iris transillumination d... OMIM:267750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Brittle hair, Ataxia OMIM:616084
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
1Q21.1 Microdeletion Syndrome
Cataract, Broad thumb, Toe syndactyly, Failure to thrive, Intrauterine growth retardation, Clinod... ORPHA:250989
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotati... OMIM:120330
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Beta 2-microglobulinuria, S... ORPHA:91500
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Attention deficit hyperactivity disorder, Kyphosis OMIM:615433
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Back ... ORPHA:98855
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Machado-Joseph Disease Type 3
Spasticity, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Babinski sign,... ORPHA:276244
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Cataract, Spasticity, Failure to thrive, Brittle hair, Hypertyrosinemia, Ataxia, T... OMIM:124000
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Growth delay ORPHA:79254
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse pubic hair, Spa... OMIM:604292
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypoplasia of penis, Iris co... ORPHA:2250
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Difficulty walking, Generalized aminoaciduria, Failure to thrive OMIM:264700
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypertrichosis, Brachydactyly, Hypoparathyroidism, Short stature OMIM:247410
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair, Scoliosis, Kyphosis ORPHA:1883
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse hair, Rectovagi... OMIM:129900
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Kera... OMIM:269200
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Scoliosis, Kyphosis ORPHA:79327
15Q24 Microdeletion Syndrome
Hypospadias, High anterior hairline, Kyphosis, Failure to thrive, Microphallus, Obesity, Broad ey... ORPHA:94065
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Conjunctival icterus, Glycosuria, Renal insufficienc... ORPHA:447
Ciliary Dyskinesia, Primary, 11
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced... OMIM:612649
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Inappropriate behavior, Polymicrogyria, Pachygyria, Intrauterin... ORPHA:3310
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Anterior wedgin... OMIM:253200
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Displacement of the urethral... ORPHA:3378
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Conjunctival icterus, Failure to thrive, Bilate... OMIM:606812
Trisomy 20P
Platyspondyly, Highly arched eyebrow, Hypospadias, Coarse hair, Abnormal form of the vertebral bo... ORPHA:261318
Treacher-Collins Syndrome
Small scrotum, Iris coloboma, Cataract, Multiple enchondromatosis, Failure to thrive, Abnormal ha... ORPHA:861
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Failure to thrive, Fine hair, Oroticaciduria, Stage 5 chronic kidn... OMIM:222700
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Cataract, Scoliosis, Kyphosis ORPHA:79107
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Failure to thrive, Tetraparesis, Myoclonus, 3-Methylglutaconic aciduria, Paralysis, Hyp... OMIM:203700
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, ... ORPHA:3472
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Hypoplasia of the femoral head, S... OMIM:607014
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Difficulty walking, Ina... OMIM:618476
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hypospadias, Obesity, Generalized hirsutism, Short neck, Hyperactivity, ... ORPHA:254346
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... OMIM:203100
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short distal phalanx of finger, Cataract, Broad thumb, Highly arched eyebrow, Prominent fingertip... OMIM:612474
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Obesity, Frontal upswee... OMIM:176270
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Decreased body weight, Hematuria, Progressive spastic quadriplegia,... OMIM:619475
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Wieacker-Wolff Syndrome
High anterior hairline, Spasticity, Short neck, Oculomotor apraxia, Apraxia, Hyperlordosis, Scoli... OMIM:314580
Mucolipidosis Iii Gamma
Short neck, Mucopolysacchariduria, Hyperlordosis, Opacification of the corneal stroma, Scoliosis,... OMIM:252605
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Opacification of the corneal st... OMIM:158310
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Carney Complex, Type 1
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h... OMIM:160980
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Abnormal met... ORPHA:818
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Intrauterine growth retardation, ... ORPHA:2470
Microphthalmia, Lenz Type
Self-injurious behavior, Cataract, Microcornea, Hypospadias, Hydroureter, Renal hypoplasia/aplasi... ORPHA:568
Porphyria, Acute Intermittent
Urinary retention, Respiratory paralysis, Paralysis, Urinary incontinence, Elevated urinary delta... OMIM:176000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Short neck, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of t... ORPHA:3082
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Short distal phalanx of finger, Cataract, Alopecia, Breast aplasia, Abnormal ... ORPHA:90153
Mucopolysaccharidosis Type 6
Failure to thrive, Short neck, Mucopolysacchariduria, Opacification of the corneal stroma, Kyphos... ORPHA:583
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Congenital Fibrosis Of Extraocular Muscles
Finger aplasia, Cataract, Polymicrogyria, Abnormal pupil shape, Hypogonadotropic hypogonadism, An... ORPHA:45358
Neurofibromatosis Type 1
Hypopigmented skin patches, Genu valgum, Cryptorchidism, Genu varum, Precocious puberty, Cataract... ORPHA:636
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Microcoria, Short foot, ... ORPHA:93357
Traboulsi Syndrome
Homocystinuria, Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Carpal synostosis, Preaxial polydactyly, Camptodactyly o... ORPHA:90652
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Pallister-Killian Syndrome
Hyperpigmented streaks, Small scrotum, Small hand, Postaxial foot polydactyly, Sparse scalp hair,... OMIM:601803
3M Syndrome
Hypospadias, Increased vertebral height, Decreased fertility, Thick eyebrow, Short neck, Hyperlor... ORPHA:2616
Alexander Disease
Self-injurious behavior, Spasticity, Failure to thrive, Chorea, Tremor, Short neck, Gait disturba... ORPHA:58
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Reduced sperm motility OMIM:615434
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Prostatitis, Corn... ORPHA:56
Pituitary Apoplexy
Mydriasis, Impotence, Oligomenorrhea, Hypergonadotropic hypogonadism ORPHA:95613
Desbuquois Dysplasia 1
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Developmental glaucoma, W... OMIM:251450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, Cryptorchidism, Chordee, Iris coloboma, Hypospadias, Posterior pituitary hypoplasi... ORPHA:268261
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Hirsutism, Dermatan sulfate excretion in urine, Corneal opaci... OMIM:607015
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Failure to thrive, Intention tremor, Dysmetria, Tremor,... OMIM:212065
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Schwartz-Jampel Syndrome
Abnormality of the ureter, Decreased body weight, Generalized hirsutism, Short neck, Cachexia, Sp... ORPHA:800
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervical verte... ORPHA:2522
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Spastic paraplegia, Kyphosis, Difficulty walking, Dysmetria, Ankle clonus, Bab... ORPHA:171629
Pmm2-Cdg
Insulin resistance, Cataract, Osteopenia, Elevated circulating thyroid-stimulating hormone concen... ORPHA:79318
Inhalational Botulism
Paralysis, Mydriasis, Urinary retention ORPHA:254504
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Oral-pharyngeal dysphagia, Gait imbalance, Spastic diplegia, Tremor, Prominent protru... OMIM:300966
Dyskeratosis Congenita, X-Linked
Cataract, Alopecia, Premature graying of hair, Pterygium, Decreased testicular size, Ridged nail,... OMIM:305000
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Myoclonus OMIM:614946
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mend Syndrome
Cataract, Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Cryptorchidism, ... OMIM:300960
Somatomammotropinoma
Impotence, Cerebral palsy, Dysuria, Dysmenorrhea, Generalized hirsutism, Hypogonadotropic hypogon... ORPHA:314769
Ullrich Congenital Muscular Dystrophy 1A
Failure to thrive, Slender build, Torticollis, Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Acromegaly
Long penis, Cerebral palsy, Spinal canal stenosis, Dysuria, Wide penis, Dysmenorrhea, Generalized... ORPHA:963
Poliomyelitis
Fasciculations, Inability to walk, Hyperkinetic movements, Paralysis, Paraparesis, Anorexia, Dysp... ORPHA:2912
Myhre Syndrome
Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Cryptorchidism, Sparse hair, Cataract, Con... OMIM:139210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Abnormal temper tantrums, Broad-based gait, Spastic paraplegia, Azoosperm... ORPHA:2072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Waddling gait OMIM:618138
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Legius Syndrome
Cataract, Inguinal freckling, Male urethral meatus stenosis, Polydactyly, Multiple cafe-au-lait s... ORPHA:137605
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Metaphyseal sclerosis, Genu v... ORPHA:2976
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Recurrent urinary tract infection... OMIM:609029
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Finger syndactyly, Down-sloping shoulders, Brachydactyly, Shawl scrotum, S... ORPHA:1974
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Blue irides, White ey... ORPHA:352731
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Aplasia of the vagina... OMIM:193500
Molybdenum Cofactor Deficiency, Type C
Increased urinary taurine, Limb hypertonia, Hypertonia OMIM:615501
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Spasticity, Hypospadias, Hydronephrosis, Sparse hair, Scoliosis, Kyphosis OMIM:616449
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Short phalanx of finger, Broad... OMIM:302350
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal hair quantity ORPHA:3098
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Clark-Baraitser syndrome
Obesity, Scoliosis, Kyphosis OMIM:300602
Shashi-Pena Syndrome
Highly arched eyebrow, Unilateral renal agenesis, Hypertrichosis, Long eyelashes, Cervical C2/C3 ... OMIM:617190
Crisponi Syndrome
Scoliosis, Kyphosis, Hypertonia ORPHA:1545
Rett Syndrome, Congenital Variant
Spasticity, Scoliosis, Bruxism, Chorea, Apraxia, Tongue thrusting, Athetosis, Motor stereotypy, K... OMIM:613454
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Limb hypertonia, Dysphagia, Spastic tetraplegia OMIM:619909
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorchidism, Rectoperineal fistula, R... ORPHA:857
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Inappropriate laughter, Hypopigment... ORPHA:411511
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Failure to thrive, Glycosuria, Hyperphosphaturia, ... OMIM:229600
Degcags Syndrome
Toe syndactyly, Premature graying of hair, Genu valgum, Cryptorchidism, Low posterior hairline, C... OMIM:619488
Renal Tubular Acidosis Iii
Nephrocalcinosis, Periodic paralysis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcornea, Sparse eyebrow, Spasticity, Male urethral meatus stenosis, Difficulty w... ORPHA:464738
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Hyperlordosis, Torticollis, Scoliosis, Kyphosis OMIM:181405
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Inability to walk, Bruxism, Astigmatism, Hyperkinetic movements, Aggressive be... OMIM:617799
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Hematuria, Generalized hirsutism, Abnormal localization ... ORPHA:3121
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis, Obesity ORPHA:3191
Typical Nemaline Myopathy
Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Small hand, Intrauterine growth retardation, Cryptorchidism, Severe postnatal growth re... OMIM:620005
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Hypopigmented skin patches, Hypermelanotic macul... ORPHA:53271
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Noonan Syndrome 1
Clinodactyly, Radial deviation of finger, Hypogonadism, Failure to thrive in infancy, Postnatal g... OMIM:163950
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Cataract, Epiphyseal stippling, Coarse hair OMIM:118650
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita... OMIM:181450
Arthrogryposis, Distal, Type 4
Low anterior hairline, Lumbar scoliosis, Low posterior hairline, Torticollis, Scoliosis, Kyphosis OMIM:609128
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei... ORPHA:276621
Cockayne Syndrome
Lentiglobus, Spasticity, Dry hair, Difficulty walking, Action tremor, Cachexia, Ataxia, Urinary i... ORPHA:191
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Kyphosis, Failure to thrive, Astigmatism, Hydronephrosis,... ORPHA:464311
Stickler Syndrome, Type I
Platyspondyly, Cataract, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scol... OMIM:108300
Bruck Syndrome 1
Platyspondyly, Vertebral wedging, Pterygium, Scoliosis, Kyphosis OMIM:259450
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Urinary retention, Obesity, Tremor, Respiratory paralysis, Paralysi... ORPHA:79102
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Kyphosis, Failure to thrive, Breast hypoplasia, Astigmati... ORPHA:464306
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Myoclonus, Neurogenic bladder, Dysphagia, Vocal cord paralysis, Scoliosis ORPHA:500144
Currarino Syndrome
Lower limb asymmetry, Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma ORPHA:1552
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Failure to thrive, Hypertrichosis, Frequent temper tantrums, Attention deficit hype... OMIM:618050
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambiguous genitalia, Pe... OMIM:618280
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Encephalocraniocutaneous Lipomatosis
Alopecia, Spasticity, Hemiplegia, Hemiparesis, Rigidity, Paralysis, Tetraplegia, Hypertonia, Corn... ORPHA:2396
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Abnormal form of the vertebral bo... ORPHA:2636
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Aniridia, Tremor, Hematur... ORPHA:29072
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Hirsutism, Rigidity, Babinski sign, Abnormality of extrapyramidal motor functi... OMIM:617527
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Spotty... ORPHA:167
Cono-Spondylar Dysplasia
Short nail, Failure to thrive, Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Low anterior hairline, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:404440
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Type II... OMIM:613406
Congenital Myopathy 22A, Classic
Spinal rigidity, Frequent falls, Thoracic scoliosis, Synophrys, Scoliosis, Kyphosis, Waddling gait OMIM:620351
Rhombencephalosynapsis
Finger syndactyly, Abnormality of the uterus, Polydactyly, Short phalanx of finger, Complete dupl... ORPHA:59315
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Scoliosis, Kyphosis OMIM:615381
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Coffin-Lowry Syndrome
Self-injurious behavior, Cataract, Abnormal form of the vertebral bodies, Gait disturbance, Hyper... ORPHA:192
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmenta... ORPHA:2311
Hypocalcemic Vitamin D-Dependent Rickets
Difficulty walking, Generalized aminoaciduria, Failure to thrive ORPHA:289157
Andersen-Tawil Syndrome
Renal hypoplasia, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Renal tubular dy... ORPHA:37553
Cohen-Gibson Syndrome
Cataract, Osteopenia, Broad thumb, Small nail, Flared metaphysis, Hypoplastic iliac wing, Melanoc... OMIM:617561
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Oroticaciduria, Decreased g... ORPHA:470
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis, Abnormality of the kidney ORPHA:2655
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis, Pterygium ORPHA:2771
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Lower limb hypertonia OMIM:169400
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Paralysis, Alopecia OMIM:242100
Rift Valley Fever
Hemiparesis, Hematuria, Paralysis, Paraparesis, Anorexia, Decerebrate rigidity, Back pain ORPHA:319251
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Arnold-Chiari Malformation Type I
Gait ataxia, Cervical C2/C3 vertebral fusion, Babinski sign, Fused cervical vertebrae, Dysphagia,... ORPHA:268882
Proteus Syndrome
Finger syndactyly, Generalized hirsutism, Cachexia, Abnormal metacarpal morphology, Calvarial hyp... ORPHA:744
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Inappropriate laughter, Hypopigment... ORPHA:98794
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Obesity, Astigmatism, Unsteady gait, Scoliosis, Kyphosis OMIM:618493
Trisomy 9P
Abnormal pupil morphology, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Renal insufficiency,... OMIM:276700
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract, Failure to thrive OMIM:201470
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Marfanoid Habitus With Situs Inversus
Lens subluxation, Scoliosis, Kyphosis OMIM:609008
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Syndromic Diarrhea
Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liver, Thrombocytosis, Sp... ORPHA:84064
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Congenital Disorder Of Glycosylation, Type Il
Short neck, Polycystic kidney dysplasia, Kyphosis, Failure to thrive OMIM:608776
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Distal Triplication 15Q
Dilatation of the renal pelvis, Kyphosis, Horseshoe kidney, Large for gestational age, Nephroblas... ORPHA:314588
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... OMIM:221800
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Gait disturbance, Hypertonia ORPHA:682
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Supernumerary nipple ORPHA:64755
Glioblastoma
Paralysis ORPHA:360
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Aggressive behavior, Broad eyebrow, Wool... OMIM:619244
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Dry hair, Hydroureter, Urinary retention, Unilateral renal ag... ORPHA:90324
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hirsutism, Rigidity, Progressive spastic quadriplegia, Abnormality o... ORPHA:521426
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... ORPHA:238468
Floating-Harbor Syndrome
Broad thumb, Cryptorchidism, Low posterior hairline, Broad fingertip, Generalized hypertrichosis,... OMIM:136140
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Cryptorchidism, Decreased skull ossification,... OMIM:216340
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal fingernail morphology, Abnormal reproductive syste... ORPHA:1521
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Hyperpigmentation of the skin, Cortical cataract ORPHA:637
Cockayne Syndrome B
Sparse hair, Microcornea, Dry hair, Kyphosis, Failure to thrive, Hypoplasia of the iris, Abnormal... OMIM:133540
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can... ORPHA:15
Autosomal Dominant Optic Atrophy And Cataract
Deviation of the 2nd finger, Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterio... ORPHA:67036
Alstrom Syndrome
Irregular menstruation, Nephritis, Alopecia, Obesity, Renal insufficiency, Subcapsular cataract, ... OMIM:203800
Multiple Endocrine Neoplasia Type 1
Decreased male libido, Nephrolithiasis, Amenorrhea, Lethargy, Weight loss, Hypercalciuria, Anorex... ORPHA:652
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelo... OMIM:301111
Aspartylglucosaminuria
Platyspondyly, Cataract, Spondylolysis, Spasticity, Aspartylglucosaminuria, Spondylolisthesis, Be... OMIM:208400
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Absent crus of helix, Finger syndactyly, Micromelia, Preaxial ha... ORPHA:2753
Camurati-Engelmann Disease
Abnormality of the vertebral column, Urinary retention, Hypogonadism, Slender build, Anorexia, Ca... ORPHA:1328
Alkaptonuria
Elevated urinary homogentisic acid, Brown pigmentation of the conjunctiva, Dark urine, Decreased ... OMIM:203500
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
22Q11.2 Deletion Syndrome
Cataract, Cholelithiasis, Hypopigmented skin patches, Abnormality of the uterus, Multiple suture ... ORPHA:567
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Abnormality of the uterus, Camptodactyly of finger, Rad... OMIM:249000
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia, Vocal cord paralysis ORPHA:142
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Male sexual dysfunction, Female sexual dysfunction, ... ORPHA:322
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Small for gestational age, Growth delay, Clinodactyly, Short thum... ORPHA:2044
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Spondylolisthesis, Mucopolysacchariduria, Opacification of the corneal str... OMIM:252600
Fountain Syndrome
Abnormal form of the vertebral bodies, Thick eyebrow, Spina bifida occulta, Scoliosis, Kyphosis, ... ORPHA:3219
Interstitial Lung And Liver Disease
Aminoaciduria, Failure to thrive OMIM:615486
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Genu valgum, Partial duplication of thumb phalanx, Hemivertebrae, ... OMIM:164210
3C Syndrome
Hypospadias, Hydronephrosis, Short neck, Hemivertebrae, Hypoplasia of penis, Scoliosis, Iris colo... ORPHA:7
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis, Abnormality of the kidney ORPHA:93274
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Long eyelashes, Self-mutilation, Decreased body weight, Attention deficit ... OMIM:619005
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Failure to thrive OMIM:251880
Marshall-Smith Syndrome
Atlantoaxial dislocation, Short distal phalanx of finger, Microretrognathia, Hypoplasia of the od... OMIM:602535
Laryngeal Abductor Paralysis
Dysphagia, Vocal cord paralysis OMIM:150260
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis,... ORPHA:297
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Kinsship Syndrome
Sacral dimple, Micrognathia, Fibular hypoplasia, Polydactyly, Short neck, Coxa valga, Pes planus,... OMIM:619297
Lateral Meningocele Syndrome
Iris coloboma, Abnormal form of the vertebral bodies, Low posterior hairline, Short neck, Hyperlo... ORPHA:2789
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Osteopathia striata, Fibular aplasia, Micrognathia, Clinodactyly of the 5... OMIM:300373
46,Xy Sex Reversal 6
Sparse axillary hair, Chordee, Hypospadias, Hirsutism OMIM:613762
1P36 Deletion Syndrome
Generalized hirsutism, Polyphagia, Abnormality of the kidney, Hypospadias, Motor stereotypy, Dysp... ORPHA:1606
Paramyotonia Congenita Of Von Eulenburg
Dysphagia, Periodic hypokalemic paresis ORPHA:684
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Irregular menstruation, Lumbar hyperlordosis, Urinary incontinence, Kyphosis OMIM:616482
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Short ne... OMIM:309900
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Postnatal growth retardation, Enlarged labia minora, Cryptorc... OMIM:268300
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Failure to thrive, Renal tubular acidos... ORPHA:358
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Cataract, Galactosuria, Organic aciduria ORPHA:85276
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Unilateral renal agenesis, Supernumerary nipple, Vesicoureteral reflux, Mi... OMIM:619951
Intellectual Developmental Disorder, Autosomal Dominant 73
Axillary pterygium, Highly arched eyebrow, Spasticity, Hydroureter, Tip-toe gait, Lumbar hyperlor... OMIM:620450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Williams Syndrome
Spasticity, Megalocornea, Overfriendliness, Posterior embryotoxon, Ataxia, Flat cornea, Cataract,... ORPHA:904
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Iris coloboma, Highly arched eyebrow, High anterior hairline, Hypo... ORPHA:280
Cohen Syndrome
Failure to thrive in infancy, Obesity, Long eyelashes, Thick eyebrow, Low anterior hairline, Thic... ORPHA:193
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Monosomy 9Q22.3
Cataract, Abnormality of the vertebral column, Large for gestational age, Nephroblastoma, Short n... ORPHA:77301
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Pancreatic ... ORPHA:730
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Frontal upsweep of hair, Cryptorchidism, Micropenis, Rectovaginal fistula, ... OMIM:243800
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Meckel Syndrome
Cataract, Microcornea, Postaxial foot polydactyly, Preaxial hand polydactyly, Cryptorchidism, Apl... ORPHA:564
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Speech apraxia, Overfriendliness, Hypospadias, Alopecia, Cervical spinal canal ste... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Speech apraxia, Overfriendliness, Hypospadias, Alopecia, Cervical spinal canal ste... ORPHA:363958
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... OMIM:218330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Scoliosis, Kyphosis ORPHA:261144
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h... ORPHA:3404
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Astigmatism, Abnormal hair pattern, Scoliosis, Dysphagia, Kyphosis ORPHA:261250
Cystic Fibrosis
Osteopenia, Decreased body mass index, Absent vas deferens, Failure to thrive, Osteoporosis, Male... ORPHA:586
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Spasticity, Renal agenesis, Kyphoscoliosis, Hydronephrosis, Hemivertebrae, Micropeni... OMIM:301040
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Ectopia lentis, Hemiplegia/hemiparesis, Anorexia, Scoliosis, Kyphosis, Sparse scalp hair ORPHA:394
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Hypospadias, Intercrural pterygium, Popliteal pterygium, Anterior clefting of... OMIM:265000
Neu-Laxova Syndrome 1
Cataract, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Pterygium,... OMIM:256520
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Vertebral segmentation defect, Sparse hair, Scoliosis, Kyphosis ORPHA:1005
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Multicystic kidney dysplasia, Abnormality of the urinary ... ORPHA:2461
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Intrauterine ... ORPHA:3322
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Scoliosis, Kyphosis OMIM:617143
Atelis Syndrome 2
Dysmetria, Attention deficit hyperactivity disorder, Developmental cataract, Kyphosis, Sacral dimple OMIM:620185
Weaver Syndrome
Spasticity, Fine hair, Polyphagia, Hypertonia, Sparse hair, Scoliosis, Kyphosis, Poor fine motor ... OMIM:277590
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Abnormal cornea morphology, Male infertility OMIM:244400
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, High anterior hairline, Hydroureter, Bilateral renal agenesis, Hypopla... OMIM:619194
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Marden-Walker Syndrome
Renal hypoplasia, Short neck, Micropenis, Scoliosis, Hypospadias, Kyphosis OMIM:248700
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Kyphosis, Truncal obesity OMIM:219080
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Intention tremor, Dysmetria, Head titubation, Ataxia, Dysphagia, ... OMIM:619708
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Prea... ORPHA:233
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Kyphosis, Truncal obesity OMIM:610475
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunction, Overweight, Scol... ORPHA:763
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Impotence ORPHA:43393
Lateral Meningocele Syndrome
Coarse hair, Biconcave vertebral bodies, Short neck, Neurogenic bladder, Vertebral fusion, Scolio... OMIM:130720
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Spondyloenchondrodysplasia
Platyspondyly, Chronic kidney disease, Spasticity, Chorea, Hematuria, Proteinuria, Kyphosis ORPHA:1855
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Disproportionate short-limb short stature, Uterus didelphys, Abnormal pelvis bone ossif... ORPHA:93271
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Hypoplastic pelvis, Adrenal gland agenesis, Vaginal atresia,... OMIM:273395
Triosephosphate Isomerase Deficiency
Spasticity, Failure to thrive, Tremor, Unsteady gait, Kyphosis OMIM:615512
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Thick eyebrow, Hyperlordosis, Elevated urinary epinephrine level, S... OMIM:162300
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Medial flaring of the eyebrow, Scoliosis, Hypospadias, Kyphosis OMIM:617602
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Pancreatic islet cell adenoma, Adrenal pheochromocytoma... ORPHA:892
Mgat2-Cdg
Failure to thrive, Long eyelashes, Stereotypical hand wringing, Hirsutism, Hypoplastic nipples, S... ORPHA:79329
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Low anterior hairline, Attention deficit hyperactivity disorder, Short neck, He... OMIM:618223
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectova... OMIM:107480
Kanzaki Disease
Aminoaciduria, Tortuosity of conjunctival vessels, Increased urinary O-linked sialopeptides OMIM:609242
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Cataract, Biconcave vertebral bodies, Kyphoscoliosis, Iris atrophy, Severe platysp... OMIM:259770
Charge Syndrome
Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hand polydactyly, Absent tibia, H... OMIM:214800
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Scoliosis, Periodic hypokalemic paresis OMIM:170390
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Noonan Syndrome 14
Sparse eyebrow, Low posterior hairline, Short neck, Curly hair, Sparse hair, Kyphosis OMIM:619745
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Scoliosis, Hypospadias, Kyphosis OMIM:619718
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Difficulty walking, Slender build, Lumbar hyperlordosis, Large for gestational ag... ORPHA:457359
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Keratoconus, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperexte... OMIM:130050
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Vertebral segmentation defect, Low anterior hairline, Short neck, Scoli... ORPHA:251014
Menkes Disease
Hypoglycemia, Intrauterine growth retardation, Bowing of the long bones, Woolly hair, Osteoporosi... ORPHA:565
Von Hippel-Lindau Syndrome
Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap... OMIM:193300
Primrose Syndrome
Self-injurious behavior, Posterior polar cataract, Sparse scalp hair, Kyphosis, Sparse body hair,... OMIM:259050
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Oeis Complex
Congenital hip dislocation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguou... OMIM:258040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Speech apraxia, Tremor, Kyphoscoliosis, Aggressive behavior, Ataxia, Scoliosis, Ky... OMIM:300967
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Astigmatism, Urinary incontinence, Scoliosis, Dysphagia, Kyphosis OMIM:619482
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Scoliosis, Kyphosis ORPHA:2075
Ramon Syndrome
Hypertrichosis, Axenfeld anomaly, Decreased body weight, Scoliosis, Kyphosis OMIM:266270
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Large for gestational age, Gait ataxia, Hyperlordosis, Scoliosis, Kyphosis OMIM:617011
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Astigmatism, Thoracic scoliosis, Kyphoscoliosis, Keratoconjunctivitis sicca, Kyphosis, ... ORPHA:536532
Townes-Brocks Syndrome 2
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Alopecia, Keratitis, Abnormality of the vertebral c... ORPHA:2273
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Kyphosis, Anorexia ORPHA:1969
Osteogenesis Imperfecta
Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bodies, Tetraparesis... ORPHA:666
Liver Disease, Severe Congenital
Aminoaciduria, Dry hair, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic ki... OMIM:619991
Cdags Syndrome
Sparse eyebrow, Rectourethral fistula, Sparse eyelashes, Hypospadias, Kyphosis, Sparse scalp hair OMIM:603116
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Marfan Syndrome
Ectopia lentis, Hypoplasia of the iris, Slender build, Spondylolisthesis, Cachexia, Attention def... ORPHA:558
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Lymphedema-Distichiasis Syndrome
Yellow nails, Recurrent corneal erosions, Distichiasis, Conjunctivitis, Corneal ulceration, Kyphosis OMIM:153400
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Kyphosis OMIM:300942
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Marfanoid-Progeroid-Lipodystrophy Syndrome
Keratoconjunctivitis sicca, Ectopia lentis, Kyphosis OMIM:616914
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
Stickler Syndrome
Platyspondyly, Cataract, Ectopia lentis, Abnormal form of the vertebral bodies, Spinal canal sten... ORPHA:828
Zttk Syndrome
Unilateral renal agenesis, Sparse eyebrow, Spasticity, Failure to thrive, Horseshoe kidney, Broad... OMIM:617140
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair, Inability to walk, Weight loss, Kyphosis ORPHA:576
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Sparse eyebrow, Thin eyebrow, Hypospadias, Kyphosis OMIM:609944
Cataract 49
Posterior cortical cataract OMIM:619593
Williams-Beuren Syndrome
Premature graying of hair, Incoordination, Obsessive-compulsive trait, Failure to thrive in infan... OMIM:194050
Robinow Syndrome, Autosomal Dominant 3
Long eyelashes, Vesicoureteral reflux, Short neck, Micropenis, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Sotos Syndrome
Abnormal vertebral morphology, Decreased fertility, Abnormality of the kidney, Hypospadias, Sacro... ORPHA:821
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Hypoplasia of proximal radius, Micrognathia, Fibular h... ORPHA:444077
Frank-Ter Haar Syndrome
Megalocornea, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Buphtha... OMIM:249420
Mosaic Trisomy 20
Spinal canal stenosis, Horseshoe kidney, Vertebral segmentation defect, Abnormality of the kidney... ORPHA:1724
Autosomal Recessive Robinow Syndrome
Alopecia, Multicystic kidney dysplasia, Long eyelashes, Vertebral segmentation defect, Hydronephr... ORPHA:1507
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Poland Syndrome
Hypospadias, Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Vertebral segmentation defect,... ORPHA:2911
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis, Synophrys OMIM:619557
Pineoblastoma
Paralysis, Lethargy ORPHA:251909
Aspartylglucosaminuria
Abnormal vertebral morphology, Aspartylglucosaminuria, Beaking of vertebral bodies, Anterior beak... ORPHA:93
Cystic Fibrosis
Hypercalciuria, Failure to thrive, Male infertility OMIM:219700
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypogonadism, Scoliosis, Hypospadias, Kyphosis, Epispadias ORPHA:2658
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight OMIM:182210
Occipital Horn Syndrome
Platyspondyly, Coarse hair, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Pili tort... OMIM:304150
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Periodic hypokalemic paresis OMIM:259730
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Hypospadias, Absent eyebrow, Kyphosis ORPHA:85199
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Coffin-Lowry Syndrome
Highly arched eyebrow, Coarse hair, Thick eyebrow, Decreased body weight, Lumbar kyphosis, Scolio... OMIM:303600
Branchiooculofacial Syndrome
Cataract, Hypospadias, Renal agenesis, Premature graying of hair, Supernumerary nipple, White for... OMIM:113620
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Kyphosis ORPHA:1393
Wrinkly Skin Syndrome
Short nail, Failure to thrive, Sparse hair, Scoliosis, Kyphosis OMIM:278250
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal central motor f... ORPHA:97685
Viss Syndrome
Alopecia, Failure to thrive, Butterfly vertebrae, Hirsutism, Hydronephrosis, Scoliosis, Dysphagia... 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
Ggt1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ggt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ggt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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