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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Tremor 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
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Osteoarthritis of the ... OMIM:601344
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, P... OMIM:619598
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Osteopenia, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Spar... ORPHA:243
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... OMIM:118651
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Impotence, Male hypogonadism, Absence of pubert... ORPHA:432
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Cryptorchidism, Micropenis,... OMIM:614841
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Streak ov... ORPHA:261529
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... OMIM:300510
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Amenorrhea, Abnormality of epiphysis morphology, Abnorm... ORPHA:3130
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Intrauterine growth retardation, Coronal craniosynostosis, Cryptorc... ORPHA:163976
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology OMIM:188800
X-Linked Intellectual Disability, Cilliers Type
Small nail, Coronal craniosynostosis, Cryptorchidism, Clinodactyly of the 5th finger, Decreased s... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Decreased serum testo... OMIM:300869
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Osteoporosis, Impoten... ORPHA:2232
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Osteoporosis, Bicornuate uterus, Secondar... OMIM:615300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... OMIM:229070
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Small for gestational age, Cataract, Failure to thrive, Nuclear c... ORPHA:79237
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Hypoplasia of the ulna, Valgus hand deformity, Fibular hypoplasia, Sho... OMIM:200700
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, ... ORPHA:247768
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... OMIM:617719
49,Xyyyy Syndrome
Primary gonadal insufficiency, Developmental cataract, Abnormality of the testis size, Azoospermi... ORPHA:99330
Premature Ovarian Failure 7
Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary ... OMIM:612964
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Osteopenia, Azoosperm... OMIM:614837
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Osebold-Remondini Syndrome
Abnormality of the vertebral column, Broad toe, Hypoplasia of the ulna, Bipartite calcaneus, Carp... OMIM:112910
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Coxa valga, Hypoplastic vertebral bodies OMIM:601370
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Estrogen Resistance
Osteopenia, Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance... OMIM:615363
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pla... ORPHA:2347
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Broad u... OMIM:249700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Absent pubic hair, Ele... ORPHA:90793
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Cataract, Decreased serum testosterone concentration ORPHA:101006
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Long foot, Short long bone, Talip... OMIM:169170
Odontoid Hypoplasia
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... OMIM:613628
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Synostosis of carpal bones, Bowing of the long bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Osteopenia, Hyperinsulinemia, Ost... ORPHA:785
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hitchhiker thumb, Hypoplastic cervic... OMIM:222600
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Infertility OMIM:300719
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... OMIM:611702
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Band keratopathy, Generalized osteoporosis, Osteopenia, Delayed puberty, Small for... ORPHA:2959
Bardet-Biedl Syndrome
Generalized hirsutism, Finger syndactyly, Cryptorchidism, Obesity, Hypoplasia of penis, Pigmentar... ORPHA:110
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Nail dysplasia, Male infertility, Bilateral c... ORPHA:1772
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Perrault Syndrome 3
Short stature, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Satoyoshi Syndrome
Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Alo... OMIM:600705
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Short tibia, Talipes equinoval... OMIM:605274
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Beaking of ver... ORPHA:3101
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, A... OMIM:194072
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Premature ovarian insufficiency, Subperiosteal bone form... OMIM:609993
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Seckel Syndrome 7
Clinodactyly, Primary amenorrhea, Intrauterine growth retardation, Central hypothyroidism, Severe... OMIM:614851
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Osteopenia, Hyperinsulinemia, Delayed puberty, Micropen... ORPHA:3464
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Irregular carpal bones, Increased laxity of ankles,... ORPHA:750
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Hypoplastic vertebral bodies, Posta... OMIM:263540
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Small for gestational age, Cryptorchidism, Micro... ORPHA:1916
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Ovarian Dysgenesis 5
Short stature, Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnormal... ORPHA:2746
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spastic Paraparesis And Deafness
Short stature, Cataract, Hypogonadism OMIM:312910
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Abnormality of male internal genita... OMIM:261550
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Rhizomelia, Flared humeral metaphysis, Flared ... OMIM:183849
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Microcornea, Highly arched eyebrow, Sparse pubic hair, Female... OMIM:110100
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Lumb... OMIM:609325
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Primary amenorrhea, Widened proximal ti... OMIM:609441
Opsismodysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short palm, Hypoplastic vertebral bodies,... OMIM:258480
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Short neck, Vertebral compression fract... ORPHA:93352
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Aarskog-Scott Syndrome
Widow's peak, Clinodactyly, Brachydactyly, Short palm, Cryptorchidism, Elevated circulating lutei... OMIM:305400
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spastic Paraparesis-Deafness Syndrome
Short stature, Cataract, Hypogonadism ORPHA:2815
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Dysosteosclerosis
Hypoplastic vertebral bodies, Platyspondyly, Abnormality of the metaphysis, Irregular vertebral e... ORPHA:1782
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... OMIM:618641
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Adrenocorticotropic hormone deficiency, Ovarian cy... ORPHA:91348
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Progressive bowing of long bones, Hypoplastic verteb... OMIM:224300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Short thumb OMIM:274205
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Abnormality of retinal pigme... ORPHA:3085
Androgen Insensitivity Syndrome
Absent pubic hair, Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular n... ORPHA:754
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Absent eyelashes, Osteoporosis, Thin nail, Absent eyebrow, Nail dystrophy, Short ... OMIM:618625
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... OMIM:108720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Schneckenbecken Dysplasia
Short neck, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Fibular hypoplas... ORPHA:3144
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... OMIM:132400
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
Familial Male-Limited Precocious Puberty
Abnormal hair morphology, Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infe... ORPHA:3000
Amed Syndrome, Digenic
Adrenal hypoplasia, Short stature, Failure to thrive, Hyperpigmentation of the skin, Hypoplasia o... OMIM:619151
Hyperprolinemia, Type I
Hyperactivity, Prolinuria, Ataxia, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Fine hair,... OMIM:241080
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Cryptorchidism, Sparse body hair, Truncal obesity, Failure to th... ORPHA:261483
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Morbid Obesity And Spermatogenic Failure
Infertility, Insulin resistance, Azoospermia, Obesity, Oligospermia, Type II diabetes mellitus OMIM:615703
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Patellar aplasia, Broad foot,... OMIM:135750
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Abnormality of ulnar metaphysis, Hypopig... ORPHA:177910
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Aromatase Deficiency
Generalized hirsutism, Primary amenorrhea, Osteopenia, Delayed epiphyseal ossification, Insulin r... ORPHA:91
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Failure to thrive, Scoliosis, Spasticity, Difficulty walking OMIM:617393
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Scol... ORPHA:2635
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short long bone, Short neck, Kyphosis, Sho... ORPHA:94068
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Hypoplastic iliac wing, Scoliosis, Vertebral fusi... ORPHA:93315
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Preaxial polydactyly, Mesomelic leg shortening, Oligod... ORPHA:2756
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus, Short stature OMIM:601076
Kennerknecht Syndrome
Toe syndactyly, Toe clinodactyly, Long eyelashes, Short stature, Abdominal obesity, Hypoplasia of... OMIM:600908
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Decreased testicular size, Failure to thrive, Short s... OMIM:201100
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short di... ORPHA:2163
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Cataract, Osteoporosis, Secondary growth hormone deficiency,... ORPHA:2410
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Short femoral neck, Broad radial metaphysis, Wide distal fem... ORPHA:99642
Saccharopinuria
Saccharopinuria, Hyperlysinuria, Spastic diplegia, Citrullinuria, Histidinuria OMIM:268700
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Atelosteogenesis Type Ii
Cervical kyphosis, Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi, Juvenile cataract OMIM:617251
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... OMIM:611225
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Short femoral n... OMIM:601668
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Absent humerus, Absent radius, Micrognathia, Abnor... ORPHA:56305
Diaminopentanuria
Spasticity, Cystinuria, Ataxia, Hyperlysinuria OMIM:222350
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Coffin-Siris Syndrome 9
Clinodactyly, Intrauterine growth retardation, Delayed puberty, Long eyelashes, Hypoplastic fifth... OMIM:615866
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Short neck, Short metacarpal, Pes planus, Hypoplas... OMIM:615222
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Pla... OMIM:271650
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Rothmund-Thomson Syndrome, Type 2
Zonular cataract, Cryptorchidism, Osteoporosis, Short thumb, Small hand, Small for gestational ag... OMIM:268400
Caudal Regression Syndrome
Missing ribs, Abnormality of pelvic girdle bone morphology, Hypoplastic vertebral bodies, Talipes... ORPHA:3027
46,Xy Sex Reversal 4
Hypoplastic labia majora, Elevated circulating creatinine concentration, Gonadal dysgenesis, Sex ... OMIM:154230
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Myotonic Dystrophy 2
Frontal balding, Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes ... OMIM:602668
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hemivertebra... ORPHA:93322
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Rhizomelia, Dislocated radial head, Micro... ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... OMIM:602111
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Short neck, Short femoral neck, Intervertebral space narrowing, Back pai... OMIM:271630
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, 11 pairs of ribs, Micrognathia, Micromelia, Absent distal ... OMIM:215140
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Gait ataxia, Aminoaciduria, Failure to thrive, Cachexia, Weight loss OMIM:612075
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Cataract, Hyperactivity, Hirsutism ORPHA:85288
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... OMIM:146110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Acrodysostosis 1 With Or Without Hormone Resistance
Brachydactyly, Neonatal epiphyseal stippling, Short palm, Hypoplastic vertebral bodies, Short met... OMIM:101800
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Genu varum, Abnormal ilium morpholo... ORPHA:93314
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Bifid femur, Foot monodactyly, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Spars... ORPHA:3044
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Erythrokeratodermia Variabilis
Generalized hirsutism, Brachydactyly, Abnormality of the nail, Abnormal hair morphology, Cataract... ORPHA:317
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... ORPHA:166011
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Amelia, Scoliosis OMIM:601357
Fibrochondrogenesis 1
Hypoplastic ischia, Short neck, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, S... OMIM:228520
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Pelviscapular Dysplasia
Brachydactyly, Short neck, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip disloca... ORPHA:93333
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Spastic gait, Kyphosis, Upper limb spasticity, Cataract, Upper limb dysmetria, Spast... OMIM:614409
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... OMIM:184250
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Spondylometaphyseal Dysplasia, Kozlowski Type
Halberd-shaped pelvis, Short neck, Delayed ossification of carpal bones, Irregular capital femora... OMIM:184252
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... ORPHA:628
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Cataract, Osteo... ORPHA:79239
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Amenorrhea, Adrenal overactivity, Increased circulating androgen concentratio... OMIM:145295
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Gonadoblastoma
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... ORPHA:206484
Leopard Syndrome 1
Cryptorchidism, Micropenis, Aplasia of the ovary, Short stature, Cafe-au-lait spot, Multiple lent... OMIM:151100
Encephalopathy Due To Sulfite Oxidase Deficiency
Spastic tetraparesis, Ataxia, Aminoaciduria, Spasticity, Hemiplegia/hemiparesis, Ectopia lentis ORPHA:833
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Femoral bowing, P... ORPHA:1860
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coronal cleft vertebrae, Flattened epiphysis, Coxa valga, ... OMIM:618363
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Male sexual dysfunction, Spastic gait, Lower limb spasticity, Uri... ORPHA:100999
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes, Infertility OMIM:136580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Growth delay, Short stature, Hypogonadism ORPHA:2528
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Valinemia
Failure to thrive, Hyperkinetic movements, Valinuria OMIM:277100
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Hypospadias, Pigmentary retinopathy, Shor... OMIM:309801
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Split hand, Short hallux, Aplasia/Hypoplasia of the ulna... OMIM:119100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... ORPHA:170
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Glycosuria, Elevated circulating creatinine concentration, Pancreatic hypoplasia... OMIM:137920
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Weight loss ORPHA:79238
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Incoordination, Homocystinuria, Gait disturbance OMIM:236250
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Osteopenia, Amenorrhea, Menorrhagia, ... ORPHA:397685
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Short stature, Bicornuate uterus, Low posterior ha... ORPHA:2578
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Short... OMIM:608940
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Brachydactyly, Intrauterine growth retardation, Cryptorchidism, Short metacarpal, Cone... OMIM:614613
Retinitis Pigmentosa
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Obesity, Hypoplasia of penis, Ty... ORPHA:791
47,Xyy Syndrome
Impaired social interactions, Varicocele, Cryptorchidism, Increased serum testosterone level, Azo... ORPHA:8
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239510
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal ... OMIM:601559
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Platyspondyly, Micromelia... OMIM:211350
Acheiropodia
Absent radius, Abnormality of epiphysis morphology, Aplasia of the ulna, Fibular aplasia, Absent ... ORPHA:931
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level,... ORPHA:95699
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteoporosis OMIM:300604
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of the vertebral column, Dysmetria, Ataxia, Abnormal vertebral morphology, Aminoacidu... OMIM:250620
Acute Transverse Myelitis
Priapism, Urinary retention, Abnormal libido, Back pain, Paraparesis, Upper motor neuron dysfunct... ORPHA:139417
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Flared iliac wing, Platyspondyly, Acetabular dysplasia, Broad metac... ORPHA:79255
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Type... OMIM:113000
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Cataract, Truncal obesity, Arachnodactyly, Pigmentary retinopathy, Hypo... OMIM:268050
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Hartnup Disorder
Neutral hyperaminoaciduria, Episodic ataxia, Hypertonia OMIM:234500
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short tibia, Short humerus, Butterf... OMIM:607143
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Astigmatism, Micropenis, Gray matter heterotopia, Gona... OMIM:618820
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Perineural Cyst
Neurogenic claudication, Abnormal sacrum morphology, Abnormal thoracic spine morphology, Male sex... ORPHA:65250
Hyper-Beta-Alaninemia
Failure to thrive, Increased urinary taurine OMIM:237400
Ivic Syndrome
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... OMIM:147750
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Cataract, Failure to thrive, Spasticity, Kyphoscoliosis OMIM:212540
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Irregularity of vertebral bodies, Abnormal ilium morphology, Broad femoral neck, Enla... ORPHA:1159
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Hypoglycemia,... ORPHA:95619
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Cone-shaped epiphysis, Short stature, Premature ov... ORPHA:3156
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysmal lethargy, Babin... OMIM:606777
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Alg9-Cdg
Short long bone, Rhizomelia, Broad ischia, Abnormal bone ossification, Flared metaphysis, Hypopla... ORPHA:79328
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Decreased body weight, Cataract, Short sta... OMIM:619420
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine growth retardation, Long eyelashes, Mic... ORPHA:48431
Galactosemia I
Cataract, Hypergonadotropic hypogonadism, Aminoaciduria, Failure to thrive, Increased level of ga... OMIM:230400
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... ORPHA:93284
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Osteoporosis, Testicular atrophy, Impoten... OMIM:235200
Prader-Willi Syndrome
Clinodactyly, Infertility, Primary amenorrhea, Acromicria, Failure to thrive in infancy, Cryptorc... OMIM:176270
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clinodactyly, Cone-shaped epiphysis, Nail dysplasia, Oligospermia, Diabetes mellitus, Small hand,... OMIM:614813
Spastic Paraplegia 26, Autosomal Recessive
Cataract, Decreased serum testosterone concentration OMIM:609195
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... ORPHA:100
Glycine Encephalopathy
Hyperactivity, Myoclonus, Hyperglycinuria, Lethargy OMIM:605899
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:812
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism... OMIM:240950
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Anauxetic Dysplasia 2
Brachydactyly, Ovoid vertebral bodies, Short neck, Hypoplasia of the femoral head, Thoracolumbar ... OMIM:617396
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Micropenis, Short stature, Generalized hypopigmentation, Alopeci... OMIM:619321
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Polycystic ovaries, Insulin-resistant diabetes mellitus, Secondary amenorrh... OMIM:268020
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal pyramidal sign, Infertility, Abnormal sperm morphology, Upper limb spasticity, Spastic d... ORPHA:320391
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... ORPHA:398079
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Difficulty walking OMIM:617087
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Rhizomelia, Short metacarpal, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Porphyria, Acute Hepatic
Failure to thrive, Paralysis, Elevated urinary delta-aminolevulinic acid, Respiratory paralysis OMIM:612740
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Short ... OMIM:304950
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Azoospermia, Cataract, Short phalanx of finger, Hypergonadotropic hypo... OMIM:300845
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Small cervical vertebral bodies, Abnormal 5th metacarpal morphology, Cervical spin... ORPHA:397715
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Cutaneou... OMIM:601829
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mucopolysaccharidosis, Type Iiid
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Hypop... OMIM:252940
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... ORPHA:98
Microcephaly-Micromelia Syndrome
Short neck, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial syno... OMIM:251230
Priapism, Familial Idiopathic
Priapism OMIM:176620
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Short neck, Hypoplastic pelvis, Hypoplastic vertebral bodies OMIM:114620
Cofs Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Short stature, Ca... ORPHA:1466
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Hypoplastic vertebral bodies, Short metacarpal, Cone-shaped epiphysis, Short phala... ORPHA:280651
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Sickle Cell Anemia
Priapism, Hematuria, Renal insufficiency OMIM:603903
Galactosemia
Decreased fertility, Primary amenorrhea, Cryptorchidism, Cataract, Secondary amenorrhea, Failure ... ORPHA:352
Mccune-Albright Syndrome
Irregular menstruation, Fibrous dysplasia of the bones, Abnormality of the thyroid gland, Polyost... ORPHA:562
Gapo Syndrome
Early balding, Abnormality of pelvic girdle bone morphology, Hypopigmented skin patches, Amenorrh... ORPHA:2067
Scorpion Envenomation
Glycosuria, Priapism, Hemifacial spasm, Acute kidney injury, Ataxia, Ketonuria, Mydriasis, Hyperk... ORPHA:466677
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Borjeson-Forssman-Lehmann Syndrome
Abnormal hip bone morphology, Small scrotum, Cryptorchidism, Thick eyebrow, Cataract, Tapered fin... ORPHA:127
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Delayed puberty, Azoospermia, Cataract, Hypergonadotropic hypogonadism... ORPHA:280679
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nail dysplasia, Absent eyebrow, Trichodysplasia, Short stature, Diabetes mellitus, Nu... OMIM:601701
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Multiple Sulfatase Deficiency
Broad hallux, Hypoplastic vertebral bodies, Broad thumb OMIM:272200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Short ribs, Decreased fibular diameter, Platyspondyly, Micrognathia, Flared metaphysi... OMIM:616897
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Choreoathetosis, Increased urinary sulfite, Ataxia, Fine hair, Decreased urinar... OMIM:272300
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cryptorchidism, Cataract, Obesity, Hypoplasia of penis, Hand po... ORPHA:2377
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Short stature, Opacifica... ORPHA:1643
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Short 4th metacarpal, Obesity, Absen... ORPHA:2183
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Galactosemia Iii
Aminoaciduria, Failure to thrive, Galactosuria OMIM:230350
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis OMIM:230500
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Cryptorchidism, Cata... ORPHA:1387
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Tibial Hemimelia
Absent tibia OMIM:275220
Autosomal Dominant Spastic Paraplegia Type 12
Progressive spastic paraplegia, Male sexual dysfunction, Spastic gait, Lower limb spasticity, Uri... ORPHA:100993
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Failure to thrive, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Short palm, Cryptorchidism, Cataract, External genital hypoplasia, Short s... OMIM:612947
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Spastic paraparesis, Elevated urinary 3-hy... ORPHA:391417
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Scoliosis, Lower limb und... ORPHA:314795
Homocarnosinosis
Carnosinuria, Spastic paraplegia OMIM:236130
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Lethargy, Spasticity, Hem... ORPHA:71277
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypoglycemia, Oligomenorrhea, Increased urinary cortisol level, Frontal balding, Dec... ORPHA:786
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal dystrophy, Long eyelashes, Cryptorchidism, Hypoplastic labia minora, Corneal opacity, Dec... ORPHA:495875
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Adult Krabbe Disease
Tetraparesis, Frequent falls, Progressive spastic paraparesis, Erectile dysfunction, Hoffmann sig... ORPHA:206448
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Progressive spastic paraparesis, Hyperactivity, Gait disturbance, Para... ORPHA:43
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Abnormality of the ulna, ... ORPHA:2639
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Osteoporo... OMIM:610628
Adrenoleukodystrophy
Incoordination, Hypogonadism, Urinary incontinence, Spastic paraplegia, Paraparesis, Truncal atax... OMIM:300100
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Renal tubular dysfunction OMIM:606528
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Bone Marrow Failure Syndrome 5
Short stature, Hypogonadism, Testicular atrophy OMIM:618165
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis, Difficulty walking OMIM:605285
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Obesity, Inability to walk, Ataxia, Lower limb spasticity, Lumbar hyperlordosis, Scolio... OMIM:616756
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypogonadotropic hypogonadism, Developmental cataract, Primary amenorrhea, Microcornea, Split han... OMIM:604168
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Kyphosis, Short neck, Short femoral neck, Platyspondyly, Lumbar hyperlordosi... OMIM:313400
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Cryptorchidism, Short metacarpal, Cataract, Short thumb ORPHA:2489
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Rhizomelic arm shortening, Clinodactyly of the 5th finger, Hypoplastic il... OMIM:223800
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Atelosteogenesis, Type Iii
Cervical kyphosis, Short neck, Hitchhiker thumb, Rhizomelia, Sandal gap, Widened distal phalanges... OMIM:108721
Filippi Syndrome
Decreased body weight, Intrauterine growth retardation, Frontal hirsutism, Cryptorchidism, Cutane... OMIM:272440
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased pineal volume, Onychauxis, Increased circulating androgen concentration... ORPHA:769
Werner Syndrome
Abnormal hair morphology, Cataract, Osteoporosis, Short stature, Diabetes mellitus, Hypogonadism OMIM:277700
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Pes planus, Dis... OMIM:618395
Threoninemia
Hyperthreoninuria OMIM:273770
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Increased bone density with cystic changes, Osteoporosi... OMIM:136300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Obesity, External genital hypoplasia, Hypogonadism ORPHA:363741
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Mitochondrial hypertrophy, Female infertility, Premature ovaria... OMIM:619518
Popliteal Pterygium Syndrome
Intercrural pterygium, Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Hypoplasia o... OMIM:119500
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormality of the medullary ca... ORPHA:83468
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency