Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired box 8
Synonyms:
Pax-8

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 Pax8 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 Pax8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pax8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im... ORPHA:90646
Thyroid Dyshormonogenesis 5
Growth delay, Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Goiter, Hypothyroidism OMIM:274800
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Seckel Syndrome 7
Microtia, Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth r... OMIM:614851
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali... OMIM:600785
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:3416
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles, Vaginal atresia OMIM:267400
Perrault Syndrome 3
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Short stature, Elevated circula... OMIM:614129
Wilson-Turner Syndrome
Short stature, Microtia, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Low-set ears, Abnormality of the middle ear ossicles, Conductive heari... OMIM:221300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormality... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s... ORPHA:247768
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Male hypogonadism, Microtia, Hypergo... ORPHA:163976
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... ORPHA:432
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Sensorineural hearing impairment, Primary ... OMIM:617565
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Microtia, Low-set ears, Bilateral cryptorchidism OMIM:617564
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Sensorineural hearing impai... OMIM:154230
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Microtia, Hypogonadotropic hypogonadism, Intrauterine growth retardation ORPHA:939
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Low-set ears, Short statu... OMIM:615866
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Short stature, Conductive hearing impairment, Hypoplasia of the u... OMIM:601076
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Renal Hypodysplasia/Aplasia 1
Low-set ears, Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Elevated circulating follicle stimulati... OMIM:305400
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Diabetes insipidus, Sensorineural hearing impairment, Neurogenic... OMIM:222300
Mosaic Trisomy 14
Hypospadias, Low-set, posteriorly rotated ears, Hypoplasia of penis, Microtia, Cryptorchidism ORPHA:1703
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Meckel Syndrome 12
Low-set ears, Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia OMIM:616258
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Lo... ORPHA:1655
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... ORPHA:750
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microtia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Pendred Syndrome
Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ... OMIM:274600
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Severe postnatal growth retardation, ... ORPHA:411590
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ... ORPHA:1426
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Hypoplastic frontal sinuses, ... OMIM:265900
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Sensorineural hearing impairment, Low-set ears, Clitoral hypoplasia, Short st... OMIM:618419
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Stenosis of the external auditory canal, Abnormal pinna morphology, Wide anterior fontanel, Fused... OMIM:207410
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Dense calvaria, Hemiatrophy ORPHA:306741
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Bowing of the long bones, Osteolysis OMIM:174810
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testic... OMIM:209900
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Short stature, Cent... OMIM:301035
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Rectovaginal fistula, Encephalocele, Hypoplasia of penis, Micr... ORPHA:861
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Unilateral crypt... OMIM:300946
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Verloove Vanhorick-Brubakk Syndrome
Microtia, Low-set ears, Atresia of the external auditory canal, Abnormality of the parathyroid gl... ORPHA:3429
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Sensorineural hearing impairment... ORPHA:226307
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Hypospadias, Microtia, Low-set ears, Umbilical hernia, Cryptorchidism, Micropenis ORPHA:171839
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Hypospadias, Congenital adrenal hypoplasia... OMIM:618336
Caffey Disease
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... OMIM:114000
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Spina bifida occulta, Hypoplasia of penis, Microtia, Hypogonad... ORPHA:2983
Xq21 Microdeletion Syndrome
Optic atrophy, Postnatal growth retardation, Decreased response to growth hormone stimulation tes... ORPHA:1435
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal cortical gyration, Abnormal middle ear morphology, Hypospadias, En... OMIM:219000
Coxoauricular Syndrome
Hearing impairment, Microtia, Short stature OMIM:122780
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Microtia, Hearing impairment, Spinal dysraphism, Cryptorchidis... ORPHA:1926
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Severe postnatal growth retardation, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Microphthalmia, Syndromic 9
Low-set ears, Bicornuate uterus, Short stature, Neonatal death, Severe short stature, Intrauterin... OMIM:601186
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory... ORPHA:1770
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati... ORPHA:1525
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... OMIM:249710
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Pendred Syndrome
Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot... ORPHA:705
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microlissencephaly, Short stature, Simplified gyral pattern, Vaginal atre... OMIM:617914
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Atresia of the external auditory canal, Conductive hearing impairment, Se... ORPHA:2316
Apert Syndrome
Chronic otitis media, Rhizomelic arm shortening, Hearing impairment, Vaginal atresia, Cryptorchidism OMIM:101200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Ohdo Syndrome
Stenosis of the external auditory canal, Microtia, Hearing impairment, Short stature, Small scrot... OMIM:249620
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Sensorineural hearing impairment, Facial p... OMIM:157640
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Hearing impairment, Short stature ORPHA:2578
Cowden Syndrome 5
Thyroiditis, Hearing impairment, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, ... OMIM:615108
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Femoral-Facial Syndrome
Maternal diabetes, Long penis, Microtia, Low-set ears, Short stature, Cryptorchidism ORPHA:1988
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Macrotia, Cryptorchidism, Bilateral facial palsy ORPHA:319332
Cowden Syndrome 6
Thyroiditis, Hearing impairment, Varicocele, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyper... OMIM:615109
Bardet-Biedl Syndrome 6
Diabetes mellitus, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, Neural tube defect, Hypospadias, Hypsarrhythmia, Wide an... ORPHA:798
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Abnormal antihelix morphology, Thyroid hypoplasia, Low-set ears, Hypothyroidism... ORPHA:3047
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Thyroid hypoplasia, Aplasia of the thymus, Intrauterine growt... OMIM:620186
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Recurrent otitis media, Microtia, Hearing impairment, Abnormality o... ORPHA:2728
Mccune-Albright Syndrome
Decreased fertility, Increased serum testosterone level, Irregular menstruation, Abnormal testis ... ORPHA:562
Branchiootorenal Syndrome 1
Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas... OMIM:113650
19P13.3 Microduplication Syndrome
Cerebral atrophy, Microtia, Low-set ears, Unilateral cryptorchidism, Precocious puberty, Growth d... ORPHA:447980
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Tetraamelia Syndrome 1
Absent external genitalia, Low-set ears, Hypoplasia of the fallopian tube, Vaginal atresia, Adren... OMIM:273395
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Encephalocele, Hypoplasia of penis, Low-set, posteriorly rotated ears, Adrenal hypop... ORPHA:2166
Amed Syndrome, Digenic
Short stature, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de... OMIM:620444
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Low-set, posteriorly rotated ears, Microtia, Hypothyroidism, Short stature ORPHA:2994
Fraser Syndrome
Hypospadias, Encephalocele, Abnormal vagina morphology, Hypoplasia of penis, Low-set, posteriorly... ORPHA:2052
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Bilateral sensorineur... OMIM:611102
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Microtia, Adrenal hypoplasia, Panhypopitui... OMIM:146510
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, Abno... ORPHA:2549
X-Linked Intellectual Disability, Snyder Type
Asymmetry of the ears, Hypospadias, Small earlobe, Low-set ears, Abnormality of the Leydig cells,... ORPHA:3063
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... OMIM:619638
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio... ORPHA:177
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Atelis Syndrome 1
Hypothyroidism, Microtia, Glue ear OMIM:620184
Cowden Syndrome 1
Thyroiditis, Hearing impairment, Varicocele, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyper... OMIM:158350
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Microtia, Low-set ears, Cryptorchidism, Hypothyroidism,... ORPHA:1439
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula, Sensorineural hearing impairment ORPHA:2597
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Short stature, Microtia, Cryptorchidism, Rhizo-meso-acromelic limb shortening ORPHA:163654
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Short stature, Conductive hearing impairment, Microtia OMIM:248910
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Postnatal growth retardation, Rhizomelia, Hypospadias, Stenosis of the external... OMIM:611209
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Aplasia/Hypoplasia of the external ear, Low-set ears, Hearing impairment, Macrotia, Cerebral cort... ORPHA:505237
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow f... OMIM:616809
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm... ORPHA:2097
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Pallister-Hall Syndrome
Microtia, Hypothalamic hamartoma, Thyroid hypoplasia, Umbilical hernia, Small scrotum, Central ad... ORPHA:672
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:600081
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... OMIM:300244
Peters Plus Syndrome
Optic atrophy, Postnatal growth retardation, Rhizomelia, Hypospadias, Spina bifida occulta, Low-s... ORPHA:709
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia, Neonatal death OMIM:612138
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Hypergonadotropic hypogonadism, Elevated circulating f... OMIM:609441
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal oss... OMIM:215045
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,... ORPHA:95716
Buratti-Harel Syndrome
Hypospadias, Microtia, Low-set ears, Posteriorly rotated ears, Cryptorchidism OMIM:619314
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:300554
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Hypothyroidism, Female infertility OMIM:617577
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Microtia, Hypergonadotropic hypogonadism OMIM:212112
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Hypoplasia of penis ORPHA:2547
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Stenosis of the external ... OMIM:616835
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Infertility, Hypothyroidism, Hypogonadotropic hypogonadis... ORPHA:465508
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Sensorineural hearing impairment, Optic nerve hypoplasia, Mic... ORPHA:93932
Meier-Gorlin Syndrome 4
Breast hypoplasia, Microtia, Low-set ears, Short stature, Birth length less than 3rd percentile, ... OMIM:613804
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Short statur... ORPHA:163634
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormal metacarpal morphology, Aplasia/Hypop... ORPHA:1350
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:241530
Van Maldergem Syndrome 2
Hypospadias, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal,... OMIM:615546
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Hypophospha... OMIM:307800
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Meier-Gorlin Syndrome 2
Breast hypoplasia, Clitoral hypertrophy, Labial hypoplasia, Microtia, Abnormal pinna morphology, ... OMIM:613800
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Proximal 16P11.2 Microduplication Syndrome
Short stature, Microtia, Micropenis ORPHA:370079
Silver-Russell Syndrome
Postnatal growth retardation, Hypospadias, Low-set, posteriorly rotated ears, Abnormal vagina mor... ORPHA:813
Acrocephalopolydactyly
Microtia ORPHA:221054
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Hearing impairment, Short stature, Chordee, Micrope... OMIM:309801
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Distal Triplication 15Q
Sensorineural hearing impairment, Abnormal helix morphology, Abnormal external genitalia, Microti... ORPHA:314588
Ck Syndrome
Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot OMIM:611263
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology... ORPHA:429
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Limitation of joint mobility, Micromelia ORPHA:168555
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Microtia, Microphallus, Short stature, Con... OMIM:603467
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... OMIM:614732
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Low-set ears, Macrotia, Intrauterine growth retardat... OMIM:615419
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Meier-Gorlin Syndrome 5
Small earlobe, Microtia, Low-set ears, Short stature, Birth length less than 3rd percentile, Intr... OMIM:613805
Lateral Meningocele Syndrome
Meningocele, Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicl... ORPHA:2789
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Sensorineural hearing impairment, Primary amenorrhea, Cry... OMIM:612702
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Atresia of the external auditory canal, Conductive hearing impairment, Short stature,... OMIM:602471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Macrotia, Bilateral sensorineural hearing impairment, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Distal Deletion 9P
Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal anti... ORPHA:1642
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hypogonadism, Cen... ORPHA:91347
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Chromosome 1Q41-Q42 Deletion Syndrome
Microtia, Low-set ears, Short stature, Cryptorchidism, Supernumerary nipple OMIM:612530
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Microtia, Bifid scrotum, Severe intrauterine growth retardatio... ORPHA:363659
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hearing impairment, Short sta... OMIM:182290
Sweeney-Cox Syndrome
Wide anterior fontanel, Microtia, Low-set ears, Bilateral cryptorchidism, Hearing impairment, Upl... OMIM:617746
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Rhizomelia, Microtia, Low-set ears, Oligozoospermia, Clitoral hypoplasia, Grow... OMIM:614813
Intellectual Developmental Disorder, Autosomal Dominant 53
Microtia, Growth delay, EEG abnormality, Cryptorchidism, Micropenis OMIM:617798
Nabais Sa-De Vries Syndrome, Type 2
Microtia, Low-set ears, Hypothyroidism, Posteriorly rotated ears, Protruding ear OMIM:618829
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Stapes ankylosis, Low-set ears OMIM:614701
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cerebral atrophy, Breast hypoplasia, Microtia, Low-set ears, Hearing impairment, Growth delay, Po... OMIM:601353
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Limb undergrowth, Bowing of the legs ORPHA:156728
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hypogonadism, Vaginal atresia OMIM:615989
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Sensorineural hearing impairment, Aplasia of the uteru... OMIM:146255
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... OMIM:607634
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Microtia, Abnormal morphology of female internal genitalia, Short stature ORPHA:1834
Hemifacial Atrophy, Progressive
Microtia, Horner syndrome OMIM:141300
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Meier-Gorlin Syndrome 1
Breast hypoplasia, Clitoral hypertrophy, Incomplete partition of the cochlea type II, Microtia, H... OMIM:224690
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insu... ORPHA:91349
Bone Marrow Failure Syndrome 5
Short stature, Testicular atrophy, Hypogonadism, Growth delay OMIM:618165
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Low-set ears, Vaginal atresia, Short stature OMIM:617088
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Microtia, Abnormality of the uterus ORPHA:1788
Catifa Syndrome
Microtia OMIM:618761
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und... OMIM:618961
Ollier Disease
Abnormal metaphysis morphology, Joint stiffness, Osteolysis, Micromelia ORPHA:296
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Delayed epiphyseal ossif... OMIM:264700
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Flat acetabular roof, Limitation of joint mobility, Bowing of the... ORPHA:1801
Peters-Plus Syndrome
Bilobate gallbladder, Disproportionate short-limb short stature, Umbilical hernia, Intrauterine g... OMIM:261540
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Thyroid Dyshormonogenesis 1
Growth delay, Goiter, Hypothyroidism OMIM:274400
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Hypoplasia of penis, Breast aplasia, Hypoplastic l... ORPHA:2554
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Delayed epiphyseal ossif... OMIM:277440
Chromosome 18Q Deletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Hypospadias, Sensorineural ... OMIM:601808
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Achondrogenesis
Abnormality of bone mineral density, Micrognathia, Abnormal enchondral ossification, Micromelia ORPHA:932
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cerebral atrophy, Postnatal growth retardation, Hypospadias, Sensorineural hearing impairment, Mi... OMIM:301040
Ohdo Syndrome, X-Linked
Stenosis of the external auditory canal, Microtia, Low-set ears, Hearing impairment, Posteriorly ... OMIM:300895
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen... OMIM:602557
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Toriello-Carey Syndrome
Cerebral atrophy, Postnatal growth retardation, Aganglionic megacolon, Wide anterior fontanel, Ab... ORPHA:3338
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Hypospadias, Sensorineural hearing impairment, Wide anterior fontan... OMIM:614541
6Q16 Microdeletion Syndrome
Microtia, Low-set ears, Abnormal ear morphology ORPHA:171829
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Meier-Gorlin Syndrome 3
Breast hypoplasia, Clitoral hypertrophy, Hypospadias, Microtia, Hypoplastic labia minora, Low-set... OMIM:613803
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro... ORPHA:2632
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu... ORPHA:2249
20P12.3 Microdeletion Syndrome
Short stature, Microtia, Thickened helices ORPHA:261295
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Hand-Foot-Genital Syndrome
Microtia, Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Blepharochalasis And Double Lip
Goiter OMIM:109900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow... ORPHA:2631
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... ORPHA:246
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Bone cyst, Abnormal bo... ORPHA:93160
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Joint hypermobi... OMIM:617952
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Secondary amenorrhea, Otosclerosis, Microtia, Pineal cyst, Progressive co... ORPHA:529962
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Protruding ear, Abnormal external genitalia, Postnatal growth retardation, Short stature ORPHA:231140
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Stenosis of the external auditory canal, Abnormal helix morphology, ... ORPHA:217017
Charge Syndrome
Delayed puberty, Abnormal pinna morphology, Microtia, Bifid scrotum, Umbilical hernia, Intrauteri... ORPHA:138
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o... ORPHA:201
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Hypercholanemia, Familial 1
Rickets OMIM:607748
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Mesomelic Dysplasia, Nievergelt Type
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th... ORPHA:2633
Schilbach-Rott Syndrome
Short stature, Microtia, Posteriorly rotated ears, Hypospadias OMIM:164220
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Pelvis-Shoulder Dysplasia
Hydranencephaly, Neonatal short-trunk short stature, Abnormal pinna morphology, Microtia, Mesomel... ORPHA:2839
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Osteoarthritis, Micromelia ORPHA:93283
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Van Maldergem Syndrome 1
Hypospadias, Sensorineural hearing impairment, Microtia, Wide anterior fontanel, Gray matter hete... OMIM:601390
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Severe short sta... ORPHA:2213
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Brachydactyly, Joint hypermobility, Acromesomelia ORPHA:40
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Microtia, third degree, Spina bifida, Anotia, Abnormality of ... ORPHA:3412
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha... ORPHA:264200
Distal Deletion 17Q
Optic atrophy, Microtia, Low-set, posteriorly rotated ears, Short stature ORPHA:1597
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hyp... OMIM:151210
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Low-set, posteriorly rotated ears, Intrauterine... ORPHA:254525
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Low-set ears, Atresia of the external auditory canal, Short sta... ORPHA:261236
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia, Encephalocele ORPHA:398156
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Multinodular goiter, Cervix cancer OMIM:620189
Achondrogenesis Type 1A
Short foot, Abnormal enchondral ossification, Micromelia, Short palm, Micrognathia, Recurrent fra... ORPHA:93299
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Rectovaginal fistula, Vesicov... OMIM:236700
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:300009
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Microtia, Myelomeningocele, Hearing impairment, Intrauterine growth retardation ORPHA:1914
Camptodactyly Syndrome, Guadalajara Type 1
Low-set, posteriorly rotated ears, Attached earlobe, Microtia, Spina bifida, Short stature, Intra... ORPHA:1327
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Abnormal ear morphology, Hearin... ORPHA:3109
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Cerebrofacioarticular Syndrome
Hypospadias, Microtia, Gray matter heterotopia, Short stature, Conductive hearing impairment, Abs... ORPHA:314679
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi... ORPHA:93352
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Microtia, Male pseudohermaphroditism, Hearing impairment, Short stature, Intrauterin... ORPHA:2282
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Microtia, Posteriorly rotated ears, Short stature OMIM:618089
Congenital Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the external ear, Cerebellar atrophy, Low-set ears, Pachygyria, EEG with bu... ORPHA:168486
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Maturity-onset diabetes of the young, Recurrent otitis media, Preco... ORPHA:254531
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Hearing impairment, Microtia, Low-set ears, Short stature OMIM:619056
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Facial palsy... OMIM:606407
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Absent antihelix, Microtia, Short stature ORPHA:293939
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Bilateral conductive hearing impairment, Progressive conductive he... OMIM:186500
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Small placenta, Hypospadias, Bifid scrotum, Low-set ears, Microphal... ORPHA:397590
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Optic nerve hypoplasia, Hypoplastic male external genital... OMIM:236670
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Decreased c... OMIM:616229
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Microtia, Intrauterine growth retardation, Short stature ORPHA:2145
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Adrenal hypoplasia, Thyroid hypoplasia, Hearing impairment, Short stature, Mild intra... OMIM:308050
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Short stature, Simple ear OMIM:619318
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Low-set, p... ORPHA:1772
Achondrogenesis Type 1B
Abnormal enchondral ossification, Micromelia, Micrognathia, Short foot, Talipes equinovarus ORPHA:93298
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Brain atrophy, Microtia, Low-set ears, Hydrocele testis OMIM:613603
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Disproportionate short stature, Hypospadias, Microtia, Precocious p... OMIM:210720
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Female hypogonadism, Hypothy... OMIM:240300
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Hypospadias, Breast aplasia, Sensorineural hearing impairment, Microtia, Wi... OMIM:617063
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Bicornuate uterus, Posteriorly rotated ... ORPHA:2143
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Cere... OMIM:137920
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Kapur-Toriello Syndrome
Hypoplasia of penis, Polymicrogyria, Low-set ears, Atresia of the external auditory canal, Poster... ORPHA:2328
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Postnatal growth retardation, Low-set ears, Hearing impairment, Growth delay, P... OMIM:179613
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Hypoplastic helices, Thickened helices, Abnormal pinna morphology, Microtia, Low-set ears, Anteve... OMIM:617641
Omodysplasia 2
Recurrent otitis media, Hypospadias, Labial hypoplasia, Dyspareunia, Rhizomelic arm shortening, C... OMIM:164745
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Microtia, Growth delay OMIM:616006
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Aymé-Gripp Syndrome
Postnatal growth retardation, Breast hypoplasia, Sensorineural hearing impairment, Microtia, Sten... ORPHA:1272
Short Stature And Facioauriculothoracic Malformations
Microtia, Low-set ears, Proportionate short stature, Overfolded helix, Cupped ear OMIM:609654
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Prominent ear helix, Microtia, Bilateral ... ORPHA:96149
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal... OMIM:163400
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ... ORPHA:93329
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Microtia, Low-set ears OMIM:620535
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Brachydactyly ORPHA:1277
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Low-set ears ORPHA:357175
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Decreased testicular size, Hearing impairment, Short stature, Hypog... OMIM:300882
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Abnormal pinna morphology, Microtia, Low-set ears, Uterus didelphys, Neon... OMIM:617925
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Decreased response to growth hormone stimulation test, Recurrent otitis med... OMIM:619503
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Progressive hearing impairment, Anterior pituitary hypoplasia, Decr... OMIM:616113
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Low-set ears, Hearing impairment, Short stature, Growth delay, Intr... OMIM:613792
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormal pinna morphology, Low-set ears, Abnormal antitragus morpholo... ORPHA:2673
Intellectual Developmental Disorder, Autosomal Dominant 1
Postnatal growth retardation, Microtia, Low-set ears, Short stature, Protruding ear, Micropenis, ... OMIM:156200
Even-Plus Syndrome
Microtia, Severe short stature OMIM:616854
Otofaciocervical Syndrome
Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari... ORPHA:2792
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Irregular menstruation, ... OMIM:203800
Prolactinoma
Delayed puberty, Erectile dysfunction, Vertigo, Dyspareunia, Impotence, Female hypogonadism, Hypo... ORPHA:2965
Acitretin/Etretinate Embryopathy
Microtia, Bilateral sensorineural hearing impairment, Hypoplasia of the thymus, Cupped ear ORPHA:40366
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth... ORPHA:99832
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Hypoplastic ilia, Micromelia OMIM:600972
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Low-set ears OMIM:615162
7Q11.23 Microduplication Syndrome
Chronic otitis media, Hypospadias, Abnormal earlobe morphology, Low-set, posteriorly rotated ears... ORPHA:96121
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Male hypogonadism, Hyperinsulinemia, Decreased response to gro... ORPHA:273
Laron Syndrome
Short long bone, Limb undergrowth, Decreased serum insulin-like growth factor 1 OMIM:262500
Contractures-Developmental Delay-Pierre Robin Syndrome
Lop ear, Microtia, Overfolded helix, Hypospadias ORPHA:436003
Arthrogryposis, Distal, Type 2A
Postnatal growth retardation, Spina bifida occulta, Cerebellar atrophy, Abnormal auditory evoked ... OMIM:193700
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Abnormal earlobe morphology, Sensorineural... ORPHA:2980
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Atresia of the external auditory canal, Dysgerminoma OMIM:123500
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Microtia, Posteriorly rotated ears, Cupped ear OMIM:619873
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Weiss-Kruszka Syndrome
Microtia, Low-set ears, Hearing impairment, Horizontal crus of helix, Protruding ear, Overfolded ... OMIM:618619
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Microtia, Bifid uterus, Overfolded helix... OMIM:617466
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... OMIM:166210
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Postnatal growth retardation, Sensorineural hearing impairment, Optic nerve hyp... OMIM:612513
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Absent brainstem auditory responses, Cryptorchidism,... ORPHA:90321
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Short stature, Hypoplasia of the ear cartilage, Umbilical hern... ORPHA:1035
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P... OMIM:616367
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal, Co... OMIM:603457
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Aplasia of the uterus, Low-set, posteriorly rotated ears ORPHA:3320
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Cousin Syndrome
Ambiguous genitalia, male, Rhizomelia, Hydranencephaly, Stenosis of the external auditory canal, ... OMIM:260660
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Abnormal female external genitalia morphology, Hypoplasia of penis, Microtia, ... ORPHA:920
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome