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Gene: Pax8 MGI:97492

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired box 8
Synonyms:
Pax-8

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature ORPHA:95720
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Thyroid Ectopia
Hypothyroidism, Short stature, Growth delay, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Athyreosis
Hypothyroidism, Thyroid agenesis, Growth delay, Short stature ORPHA:95713

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, Limb undergrowth, Ankylosis OMIM:166350
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hypogonadism, Microtia, Abnormal... ORPHA:3216
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid... ORPHA:90646
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles, Abnormal pin... OMIM:221300
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Seckel Syndrome 7
Central hypothyroidism, Microtia, Severe short stature, Primary amenorrhea, Intrauterine growth r... OMIM:614851
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of foot bone, Art... ORPHA:564003
Perrault Syndrome 3
Sensorineural hearing impairment, Streak ovary, Short stature, Elevated circulating luteinizing h... OMIM:614129
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Genu valgum, Metaphyseal irregularity, Generalized bone demineralization, Genu ... OMIM:600785
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of peripheral nerve conduction, Abnormality of fe... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Short stature, Abnormality of the ovary, Hypoplasia of the ut... ORPHA:247768
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
X-Linked Intellectual Disability, Van Esch Type
Short stature, Microtia, Decreased testicular size, Type II diabetes mellitus, Absence of seconda... ORPHA:163976
Wilson-Turner Syndrome
Short stature, Microtia, Cryptorchidism, Hypogonadotropic hypogonadism, Uplifted earlobe ORPHA:3459
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Meier-Gorlin Syndrome 8
Low-set ears, Bilateral cryptorchidism, Intrauterine growth retardation, Microtia OMIM:617564
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec... ORPHA:432
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Perrault Syndrome 6
Irregular menstruation, Sensorineural hearing impairment, Secondary amenorrhea, Premature ovarian... OMIM:617565
3-Hydroxyisobutyric Aciduria
Hypogonadotropic hypogonadism, Cerebral cortical atrophy, Intrauterine growth retardation, Microtia ORPHA:939
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Increased bone min... ORPHA:3152
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Sex reversal, Microtia, Hypoplastic labia majora, Agonadism, Re... OMIM:154230
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Short stature, Bicornuate uterus, Azoospermia, Hypoplasia of the u... OMIM:601076
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Short stature, Delayed puberty, Growth del... OMIM:615866
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Low-set ears, Primary amenorrhea, Bicornuate uterus OMIM:191830
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... ORPHA:2204
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Aarskog-Scott Syndrome
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... OMIM:305400
Mosaic Trisomy 14
Microtia, Hypoplasia of penis, Hypospadias, Cryptorchidism, Low-set, posteriorly rotated ears ORPHA:1703
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:241080
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Meckel Syndrome 12
Arrhinencephaly, Vaginal atresia, Low-set ears, Intrauterine growth retardation, Hypoplasia of th... OMIM:616258
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Neurogenic b... OMIM:222300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Pancreatic lympha... ORPHA:1655
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Limb undergro... ORPHA:1423
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microtia, Vaginal atresia, Cryptorchidism ORPHA:3301
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... ORPHA:75508
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Microtia, Abnorma... ORPHA:2549
Pendred Syndrome
Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis... OMIM:274600
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Limitation of joint mobility, Patholog... ORPHA:166277
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Optic atrophy, Male hypogonadism, Diabetes mellitu... ORPHA:411590
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... ORPHA:243
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Hemidystonia-Hemiatrophy Syndrome
Dense calvaria, Rhizomelic leg shortening, Hemiatrophy ORPHA:306741
Ovarian Dysgenesis 5
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... OMIM:617690
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis, Abnormal hip ... ORPHA:970
Pyle Disease
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... OMIM:265900
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hypoplastic labia majora, Vaginal atresia, Abnormal pinna morphology, Ste... OMIM:207410
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... ORPHA:3344
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Short stature, Hypoplastic labia majora, Clitoral hypoplasia, E... OMIM:618419
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Abnormality of t... ORPHA:1263
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Decreased resp... ORPHA:1435
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Progressive hearing impairment, Short stature, Hypogonadism, Postnatal gr... OMIM:616113
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Micrognathia, Abnormal pelvis bone ossification, Micromel... ORPHA:1426
Johnson Neuroectodermal Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Short stature, Microtia, D... OMIM:147770
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Abnormal cortic... ORPHA:2635
Verloove Vanhorick-Brubakk Syndrome
Microtia, Abnormality of the parathyroid gland, Cryptorchidism, Low-set ears, Atresia of the exte... ORPHA:3429
Congenital Hypothyroidism
Hypothyroidism, Hypogonadism, Optic atrophy, Anterior hypopituitarism, Short stature, Abnormality... ORPHA:442
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Aganglionic megacolon, Abnormality of the ovary, Nephrog... OMIM:209900
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Smith-Magenis Syndrome
EEG abnormality, Short stature, Abnormality of the outer ear, Abnormality of the thyroid gland, M... OMIM:182290
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Microtia, Hypospadias, Cerebral atrophy, Cryptorchidism, Low-set ears, Micropenis, Umbilical hernia ORPHA:171839
Disorder Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Microtia, Hypoplasia of penis, Spina bifida occulta, Severe sensorineural hearing i... ORPHA:2983
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... OMIM:618078
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Goiter, Sensorineural hearing impairment, Incomplete partition of t... OMIM:600791
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Microtia, Bilateral cryptorchidism, Congen... OMIM:618336
Treacher-Collins Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Hypoplasia of the thymus, Encephal... ORPHA:861
Fraser Syndrome 1
Hypoplastic superior helix, Conductive hearing impairment, Encephalocele, Myelomeningocele, Abnor... OMIM:219000
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Inappropriate... OMIM:301035
Diabetic Embryopathy
Spinal dysraphism, Microtia, Micropenis, Cryptorchidism, Low-set, posteriorly rotated ears, Heari... ORPHA:1926
Coxoauricular Syndrome
Hearing impairment, Short stature, Microtia OMIM:122780
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Short stature, Microtia, Underdevel... ORPHA:79113
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Unilateral cryptorchidism, Conductive hearing impairment,... OMIM:300946
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Vaginal atresia, Aplasia of the uterus, Parathyroid... ORPHA:2237
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Microtia, Polycystic ovaries, Gonadal dysgenesis, Low-set, posteriorly rotated ear... ORPHA:1770
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Optic nerve hypoplasia, Pituitary dwarfism, Decreased circulating T4 concentr... ORPHA:226307
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:2741
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... ORPHA:2114
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Johnson Neuroectodermal Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Hypogonadism, Microtia, Se... ORPHA:2316
Coxoauricular Syndrome
Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality of femur morphol... ORPHA:1508
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... OMIM:274300
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Recurrent fractures, Slender long bone, Decreased circulating osteocalcin level... OMIM:619795
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Arrhinencephaly, Optic nerve hypoplasia, Microlissenceph... OMIM:617914
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Ohdo Syndrome
Short stature, Microtia, Cryptorchidism, Stenosis of the external auditory canal, Small scrotum, ... OMIM:249620
Caffey Disease
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... OMIM:114000
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the legs, Bowing of th... OMIM:249710
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia OMIM:613909
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Satoyoshi Syndrome
Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph... ORPHA:3130
Femoral-Facial Syndrome
Short stature, Microtia, Maternal diabetes, Long penis, Cryptorchidism, Low-set ears ORPHA:1988
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... ORPHA:572333
Microphthalmia, Syndromic 9
Short stature, Bicornuate uterus, Cryptorchidism, Low-set ears, Intrauterine growth retardation, ... OMIM:601186
Pendred Syndrome
Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E... ORPHA:705
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Thyroid adenoma, Ovarian cyst, He... OMIM:615108
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Secondary amenorrhea, Premature ovarian insufficiency, Testicul... OMIM:157640
Schinzel-Giedion Syndrome
Central hypothyroidism, Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Lo... ORPHA:798
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Absent external genitalia, Vaginal atresia, Hypoplasia ... OMIM:273395
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Cranio-Osteoarthropathy
Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormality of tibia morphology, ... ORPHA:1525
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Bicornuate uterus, Azoospermia, Aplasia/hypoplasia of the uterus, Hearing impairment ORPHA:2578
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... OMIM:113650
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Hypothyroidism, Thyroid hypoplasia, Severe short stature, Ectopic ... ORPHA:3047
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Thyroid adenoma, Varicocele, Ovar... OMIM:615109
Bardet-Biedl Syndrome 6
External genital hypoplasia, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Neonatal death, Short ... OMIM:146510
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
19P13.3 Microduplication Syndrome
Precocious puberty, Microtia, Unilateral cryptorchidism, Growth delay, Cerebral atrophy, Low-set ... ORPHA:447980
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Short stature, Microtia, Abnormality of the urethra, Intrauterine ... ORPHA:2145
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the ... ORPHA:2789
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Encephalocele, Hypoplasia of penis, Thyroid hypoplasia, Hypospadias, Cryptor... ORPHA:2166
Apert Syndrome
Rhizomelic arm shortening, Vaginal atresia, Hearing impairment, Cryptorchidism, Chronic otitis media OMIM:101200
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula, Sensorineural hearing impairment ORPHA:2597
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... ORPHA:2232
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Fraser Syndrome
Urethral atresia, Ambiguous genitalia, Conductive hearing impairment, Encephalocele, Myelomeningo... ORPHA:2052
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Short stature, Microtia, Delayed puberty, Low-set, posteriorly rotated ears ORPHA:2994
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microtia, Intrauterine growth retardation, Recurrent otitis media, Abnormality of the outer ear, ... ORPHA:2728
Amed Syndrome, Digenic
Short stature, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cerebral atrophy, Cholelithiasis OMIM:160900
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Tympanosclerosis, Hypothyroidism, Decreased circulating aldosterone level, A... OMIM:240300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
X-Linked Intellectual Disability, Snyder Type
Small earlobe, EEG abnormality, Short stature, Testicular atrophy, Abnormality of the Leydig cell... ORPHA:3063
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad t... OMIM:619638
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Abnormal vestibular function, Reduced s... OMIM:611102
Ring Chromosome 12 Syndrome
Hypothyroidism, Uterine leiomyoma, Microtia, Growth delay, Cryptorchidism, Low-set ears, Glandula... ORPHA:1439
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Sensorineural hearing impairment, Elevated circulating thyro... ORPHA:95716
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Bilateral facial palsy, Macrotia, Postnatal growth retardation, Cryptorchidism ORPHA:319332
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen... ORPHA:794
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Genu valgum, Coxa vara, Abnormality of the epiphyses of the feet, Osteoarthritis, Abn... ORPHA:166002
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Short stature, Microtia OMIM:248910
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Thyroid adenoma, Varicocele, Ovar... OMIM:158350
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Limb underg... ORPHA:177
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
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Rhizo-meso-acromelic limb shortening, Cryptorchidism, Short stature, Microtia ORPHA:163654
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Brain atrophy, Rhizomelia, Microtia, Short stature, Cholesteatoma,... OMIM:611209
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Hypophosphatemic Bone Disease
Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Flar... OMIM:215045
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Macrotia, Cerebral cortical atrophy, Short stature, Intrauterine growth retardation, Aplasia/Hypo... ORPHA:505237
Achondrogenesis Type 2
Abnormal bone ossification, Hypoplastic ilia, Short long bone, Delayed vertebral ossification, Ab... ORPHA:93296
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Thyroid hypop... ORPHA:672
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Hearing impairment, Goiter OMIM:617577
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia OMIM:612138
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Buratti-Harel Syndrome
Microtia, Hypospadias, Cryptorchidism, Low-set ears, Posteriorly rotated ears OMIM:619314
Ulnar Hypoplasia
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... OMIM:191440
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Grant Syndrome
Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvi... ORPHA:2097
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Conductive hearing impairment, Vesicovaginal fistula, Adrenal insufficiency,... OMIM:201750
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microtia ORPHA:2547
Brain-Lung-Thyroid Syndrome
Thyroid hemiagenesis, Sensorineural hearing impairment, Elevated circulating thyroid-stimulating ... ORPHA:209905
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Campto... OMIM:300244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Short stature, Abnormality of the middle ear ossicles... OMIM:130720
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... OMIM:609441
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Microtia, Short stature, Intrauterine growth retardation, ... OMIM:613804
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Abnormality of th... ORPHA:50815
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... OMIM:614078
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Microtia, S... OMIM:616835
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, Toe syndactyly, Hip dysplasia, Sho... OMIM:616809
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:600081
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Fg Syndrome Type 1
Sensorineural hearing impairment, Short stature, Microtia, Optic nerve hypoplasia, Small pituitar... ORPHA:93932
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Meier-Gorlin Syndrome 2
Birth length less than 3rd percentile, Microtia, Short stature, Labial hypoplasia, Hypoplastic la... OMIM:613800
Peters Plus Syndrome
Conductive hearing impairment, Cerebral cortical atrophy, Rhizomelia, Optic atrophy, Short statur... ORPHA:709
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the h... ORPHA:1350
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Neoplasm of the parathyroid gland, Short sta... ORPHA:163634
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... ORPHA:2019
Van Maldergem Syndrome 2
Gray matter heterotopia, Conductive hearing impairment, Sensorineural hearing impairment, Wide an... OMIM:615546
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300554
Acrocephalopolydactyly
Microtia ORPHA:221054
Branchiootic Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Sensorineural hearing impa... ORPHA:52429
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Silver-Russell Syndrome
Precocious puberty, Short stature, Decreased testicular size, Premature adrenarche, Hypospadias, ... ORPHA:813
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hearing impairment, Chordee, Hypospadias, Ovotestis, Micropenis, Clitoral hypertro... OMIM:309801
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Short stature, Microtia ORPHA:370079
Meier-Gorlin Syndrome 5
Small earlobe, Birth length less than 3rd percentile, Microtia, Short stature, Intrauterine growt... OMIM:613805
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... OMIM:614732
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Distal Tetrasomy 15Q
Abnormal external genitalia, Sensorineural hearing impairment, Microtia, Hydrocele testis, Low-se... ORPHA:314588
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Aplasia of the uterus, Elevated circulating follicl... OMIM:273250
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Limitation of joint mobility, Micromelia ORPHA:168555
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Short statu... OMIM:603467
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short metacarpal, Mesomelia, Brachydactyly, Postaxial hand polydactyly, Short foot OMIM:611263
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:241530
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
20Q11.2 Microduplication Syndrome
Bifid scrotum, Microtia, Thickened ears, Severe intrauterine growth retardation, Growth delay, Cr... ORPHA:363659
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microtia, Supernumerary nipple, Cryptorchidism, Low-set ears OMIM:612530
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Macrotia, Optic atrophy, Decreased motor nerve conduction velocity, Cryptorchidism, Low-set ears,... OMIM:615419
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Rhizomelia, Short stature, Simple ear, Cryptorchidism, Atresia of ... OMIM:602471
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Hypochondroplasia
Short toe, Genu varum, Micromelia, Abnormal pelvic girdle bone morphology, Joint hyperflexibility... ORPHA:429
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical bone morphology, Limitati... ORPHA:1486
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Metaphyseal Anadysplasia 2
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... OMIM:613073
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Macrotia, Thyroid hypoplasia, Bilateral sensorineural hearing impairment ORPHA:521445
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Microtia, Clitoral hypoplasia, Oligospermia, Diabetes mellitus, Growth delay, Low-set... OMIM:614813
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Stapes ankylosis, Short stature OMIM:614701
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... OMIM:146300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Distal shortening of l... OMIM:300863
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Primary amenorrhea, Sensorineural hearing impairment, Small pituitary gland, Delayed puberty, Cry... OMIM:612702
Ck Syndrome
Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Distal Monosomy 9P
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Microtia, Hypoplastic labia ma... ORPHA:1642
Sweeney-Cox Syndrome
Low-set ears, Wide anterior fontanel, Microtia, Crumpled ear, Bilateral cryptorchidism, Overfolde... OMIM:617746
Alstrom Syndrome
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... OMIM:203800
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Microtia, Shawl scrotum, Breast hypoplasia, Growth delay, Cerebral atrophy, Cryptorchidism, Low-s... OMIM:601353
Gorham-Stout Disease
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Osteolysis involving bones... ORPHA:73
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Intellectual Developmental Disorder, Autosomal Dominant 53
EEG abnormality, Microtia, Growth delay, Cryptorchidism, Micropenis OMIM:617798
Hemifacial Atrophy, Progressive
Horner syndrome, Microtia OMIM:141300
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Microtia, Posteriorly rotated ears, Low-set ears, Protruding ear OMIM:618829
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Short stature, Abnormality of the middle ear ossicles, Mixed he... OMIM:609166
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Axial Mesodermal Dysplasia Spectrum
Short stature, Cerebral cortical atrophy, Abnormal morphology of female internal genitalia, Microtia ORPHA:1834
Osteopetrosis, Autosomal Dominant 1
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... OMIM:607634
Odontochondrodysplasia 1
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... OMIM:184260
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Catifa Syndrome
Microtia OMIM:618761
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Vaginal dryness, Supernumerary nipple, Hypospadias, Micropenis, At... OMIM:106260
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Limb undergrowth, Limited elbow extension ORPHA:156728
Thoracomelic Dysplasia
Genu valgum, Short ribs, Abnormal pelvic girdle bone morphology, Limb undergrowth, Joint hyperfle... ORPHA:1803
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Low-set ears, Hydrometrocolpos, Short stature OMIM:617088
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Microtia, Shawl scrotum, Birth length less than 3rd ... OMIM:224690
Hand-Foot-Genital Syndrome
Bicornuate uterus, Microtia, Abnormality of the uterus, Hypospadias, Abnormality of the urethra ORPHA:2438
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Pseudopapilledema, Aplasia of the uterus, Hypoparathyroidism, P... OMIM:146255
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Shawl scrotum, Hypospadias, Growth delay, Cerebral at... OMIM:301040
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Arrhinencephaly, Intrauterine growth retardation, Microtia ORPHA:1788
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Incre... ORPHA:8
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
Bor Syndrome
Atresia of the external auditory canal, Hypoplasia of the cochlea, Abnormality of the middle ear ... ORPHA:107
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Anotia, Clitoral hypertrophy, Hypoplastic labia minora, Hypoplastic labia... ORPHA:2554
Ollier Disease
Osteolysis, Joint stiffness, Abnormal metaphysis morphology, Micromelia ORPHA:296
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Growth delay, Hypogonadism OMIM:618165
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
6Q16 Microdeletion Syndrome
Low-set ears, Abnormal ear morphology, Microtia ORPHA:171829
Charge Syndrome
Optic atrophy, Anterior hypopituitarism, Abnormal cranial nerve morphology, Hearing impairment, P... ORPHA:138
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Meier-Gorlin Syndrome 3
Birth length less than 3rd percentile, Microtia, Clitoral hypertrophy, Short stature, Hypoplastic... OMIM:613803
Bardet-Biedl Syndrome 12
Vaginal atresia, Hydrometrocolpos, Hypogonadism OMIM:615989
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyl... OMIM:618961
Peters-Plus Syndrome
Hypoplastic labia majora, Microtia, second degree, Hearing impairment, Postnatal growth retardati... OMIM:261540
20P12.3 Microdeletion Syndrome
Thickened helices, Short stature, Microtia ORPHA:261295
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Wide anterior ... ORPHA:85184
Achondrogenesis
Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral density, Micromelia ORPHA:932
Ohdo Syndrome, X-Linked
Microtia, Shawl scrotum, Micropenis, Cryptorchidism, Low-set ears, Stenosis of the external audit... OMIM:300895
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... OMIM:166260
Chromosome 18Q Deletion Syndrome
Conductive hearing impairment, Macrotia, Sensorineural hearing impairment, Optic atrophy, Decreas... OMIM:601808
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Hypospadias, Growth delay, Cryptorchidi... OMIM:614541
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... ORPHA:2632
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Microtia, Supernumerary nipple, Abnormality of the middle ear, Low... ORPHA:246
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... OMIM:619598
Trisomy 8P
Conductive hearing impairment, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorch... ORPHA:264450
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, Hypoplasia of the ulna, Metatars... ORPHA:2249
Diastrophic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... ORPHA:628
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Coxa vara, Short femoral neck, Vertebra... OMIM:602557
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... OMIM:609616
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Blepharochalasis And Double Lip
Goiter OMIM:109900
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Abnormality of th... ORPHA:949
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Abnormal external genitalia, Protruding ear, Postnatal growth retardation ORPHA:231140
Zechi-Ceide Syndrome
Conductive hearing impairment, Microtia, Abnormal earlobe morphology, Low-set ears, Stenosis of t... ORPHA:217017
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:264700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia, Abnormal metaphysis morpholog... ORPHA:2631
Distal Monosomy 17Q
Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Microtia ORPHA:1597
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Mesomelic/rhizomelic limb shortening, Short stature, Microtia, Spina bifida,... ORPHA:2839
Schilbach-Rott Syndrome
Hypospadias, Short stature, Posteriorly rotated ears, Microtia OMIM:164220
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:277440
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Mullegama-Klein-Martinez Syndrome
Low-set ears, Sensorineural hearing impairment, Short stature, Microtia OMIM:301022
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... ORPHA:2633
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Encephalocele, Microtia ORPHA:398156
Van Maldergem Syndrome 1
Gray matter heterotopia, Conductive hearing impairment, Sensorineural hearing impairment, Wide an... OMIM:601390
Kyphomelic Dysplasia
Micrognathia, Flat acetabular roof, Missing ribs, Limitation of joint mobility, Micromelia, Abnor... ORPHA:1801
Proteus Syndrome
Calvarial hyperostosis, Thin bony cortex, Facial hyperostosis, Mandibular hyperostosis OMIM:176920
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Severe short stature, Conductive hearing impairment, Micr... ORPHA:2213
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Optic atrophy, Microtia, Hearing impairment, Intrauterine growth retardation ORPHA:1914
Hypercholanemia, Familial 1
Rickets OMIM:607748
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Osteoarthritis, Micromelia ORPHA:93283
Cowden Syndrome
Enlarged polycystic ovaries, Adenoma sebaceum, Short stature, Abnormality of the uterus, Neoplasm... ORPHA:201
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Precocious puberty, Intrauterine growth retardation, Postnatal... ORPHA:254525
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Aplasia/Hypoplasia of the external ear, Pachygyria, Cerebellar atroph... ORPHA:168486
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Joint hypermob... OMIM:617952
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Microtia, Spina bifida, Attached earlobe, Low-set, posteriorly rotated ears, Intra... ORPHA:1327
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Optic nerve aplasia, Abnormalit... ORPHA:264200
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Allan-Herndon-Dudley Syndrome
Underfolded superior helices, Hypothyroidism, Macrotia, Elevated circulating thyroid-stimulating ... OMIM:300523
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Conductive hearing impairment, Short stature, Microtia, Hypospadias, Abs... ORPHA:314679
Achondrogenesis Type 1A
Abnormal enchondral ossification, Short foot, Recurrent fractures, Micrognathia, Micromelia, Shor... ORPHA:93299
Acromesomelic Dysplasia, Maroteaux Type
Joint hyperflexibility, Brachydactyly, Joint stiffness, Acromesomelia, Bowing of the long bones ORPHA:40
Multiple Synostoses Syndrome 1
Progressive conductive hearing impairment, Stapes ankylosis, Conductive hearing impairment, Bilat... OMIM:186500
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of neuronal migration, EEG abnormality, Short statu... ORPHA:261236
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Microtia, third degree, Anotia, Spina bifida, Arrhinencephaly... ORPHA:3412
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Short stature, Posteriorly rotated ears, Microtia OMIM:618089
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Aganglionic megacolon, Hydrometrocolpos, Transverse vaginal septum, Vagina... OMIM:236700
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... ORPHA:83451
Meacham Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Hydrometrocolpos, Hypoplasia of penis, V... ORPHA:3097
Meier-Gorlin Syndrome 7
Sensorineural hearing impairment, Wide anterior fontanel, Short stature, Microtia, Urethral stric... OMIM:617063
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization,... ORPHA:93160
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short stature, Shawl scrotum, Microtia, Intrauterine growth retardation, Hypospadias, Male pseudo... ORPHA:2282
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Microtia, Type II diabetes mellitus, Disproportionate short stature, Hypospad... OMIM:210720
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, C... OMIM:617872
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... OMIM:108760
Hypotonia-Cystinuria Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Postnatal growth retardation, Hy... OMIM:606407
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Absent antihelix, Short stature, Microtia ORPHA:293939
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small placenta, Hypospad... ORPHA:397590
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Hypophosphatemic rickets, Decreased circulating parathyroid hor... ORPHA:157215
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia OMIM:601016
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Growth delay, Hearing impairment, Microtia OMIM:616006
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microtia, Agyria, Polymicrogyria, Meningoencephalocele, Optic nerve hypoplasia, Ty... OMIM:236670
Permanent Congenital Hypothyroidism
Hypothyroidism, Short stature, Thyroid dysgenesis, Goiter ORPHA:226292
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Short stature, Simple ear OMIM:619318
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Brain atrophy, Microtia, Aganglionic megacolon, Hydrocele testis, Low-set ears OMIM:613603
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:151210
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Microtia ORPHA:357175
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... OMIM:608728
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Hearing impairment, Short stature, Microtia OMIM:619056
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec... ORPHA:95715
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Abnormal cortical bone... ORPHA:2484
Aymé-Gripp Syndrome
Cerebral cortical atrophy, Sensorineural hearing impairment, EEG abnormality, Microtia, Short sta... ORPHA:1272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Hypoplastic helices, Thickened helices, Microtia, Anteverted ears, Micropeni... OMIM:617641
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Polymicrogyria, Pachygyria, Low-set ears, Posterio... ORPHA:2328
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Mild intrauterine growth retardation, Thyroid hypoplasia, Stillbirth, Hearing impa... OMIM:308050
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300009
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Bicornuate uterus, Abnormality of the u... ORPHA:2143
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Wide anterior fontanel, Microtia, Septate vagina, Abnormal pinna morphology, ... OMIM:617925
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Generalized bone demineralization, Fibular overgrowth, Shor... ORPHA:93352
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Microtia OMIM:615162
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Distal Monosomy 12Q
Bilateral conductive hearing impairment, Wide anterior fontanel, Short stature, Microtia, Pituita... ORPHA:96149
Short Stature And Facioauriculothoracic Malformations
Microtia, Cupped ear, Low-set ears, Proportionate short stature, Overfolded helix OMIM:609654
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... ORPHA:1772
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Acitretin/Etretinate Embryopathy
Cupped ear, Hypoplasia of the thymus, Microtia, Bilateral sensorineural hearing impairment ORPHA:40366
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Recombinant Chromosome 8 Syndrome
Growth delay, Cerebral atrophy, Cryptorchidism, Low-set ears, Hearing impairment, Posteriorly rot... OMIM:179613
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Cerebral cortical atrophy, Atretic vas deferens, Bicornuate uterus, Reduce... OMIM:137920
Chromosome 3Pter-P25 Deletion Syndrome
EEG abnormality, Short stature, Intrauterine growth retardation, Growth delay, Cryptorchidism, Lo... OMIM:613792
Cornelia De Lange Syndrome 5
Hypogonadism, Short stature, Decreased testicular size, Hearing impairment, Cryptorchidism, Micro... OMIM:300882
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Genu varum, Increased susceptibility to fractures, Osteomalacia, Tibial bowing,... ORPHA:289157
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Short stature, Hypoplasia of penis, Abnormal vagina morphology,... ORPHA:2315
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Septo-optic... ORPHA:95494
Achondrogenesis Type 1B
Micrognathia, Short foot, Abnormal enchondral ossification, Micromelia ORPHA:93298
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, EEG abnormality, Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ear... ORPHA:1035
Neurofaciodigitorenal Syndrome
Short stature, Abnormal tragus morphology, Abnormal antitragus morphology, External ear malformat... ORPHA:2673
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Micrognathia, Abnormal shoulder morphology, Brachydactyly ORPHA:1277
Otofaciocervical Syndrome
Abnormal antihelix morphology, Macrotia, Conductive hearing impairment, Short stature, Protruding... ORPHA:2792
Autosomal Recessive Omodysplasia
Rhizomelia, Micrognathia, Abnormal morphology of the radius, Hypoplastic distal humeri, Mesomelia... ORPHA:93329
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Lop ear, Overfolded helix, Microtia ORPHA:436003
17Q24.2 Microdeletion Syndrome
Otosclerosis, Decreased response to growth hormone stimulation test, Microtia, Pineal cyst, Secon... ORPHA:529962
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... ORPHA:90695
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Townes-Brocks Syndrome 2
Microtia, Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus, Cupped ear, Over... OMIM:617466
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Rhizomelia, Short long bone, Microretrognathia, Joint hypermobility, Decreas... OMIM:616229
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Weiss-Kruszka Syndrome
Horizontal crus of helix, Microtia, Overfolded helix, Low-set ears, Cupped ear, Hearing impairmen... OMIM:618619
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Micromelia, Short ribs OMIM:600972
Even-Plus Syndrome
Severe short stature, Microtia OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Microtia, Low-set ears, Cupped ear, Micropenis, Protruding ear, Postnatal growth r... OMIM:156200
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Cerebral cortical atrophy, Decreased response to growth ho... ORPHA:273
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Increased incisura length, Mixed hearing impairment, Stenosis of the external auditory ... OMIM:612290
Cousin Syndrome
Rhizomelia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranencephaly, Disproportio... OMIM:260660
Van Esch-O'Driscoll Syndrome
Short stature, Microtia, Spina bifida occulta, Hypogonadotropic hypogonadism, Growth delay, Cereb... OMIM:301030
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Metaphyseal Acroscyphodysplasia
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Micromelia, Abnormal diaphys... ORPHA:1240
Omodysplasia 2
Rhizomelic arm shortening, Labial hypoplasia, Recurrent otitis media, Clitoral hypoplasia, Hyposp... OMIM:164745
Acrootoocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Pseudopapilledema, Decreased res... ORPHA:2980
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Micrognathia, Osteoarth... ORPHA:1427
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Severe intrauterine growth retardation, De... OMIM:241410
Laron Syndrome
Decreased serum insulin-like growth factor 1, Limb undergrowth, Short long bone OMIM:262500
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Posteriorly rotated ears, Microtia OMIM:619873
Chromosome 2P16.1-P15 Deletion Syndrome
Macrotia, Sensorineural hearing impairment, Hypogonadism, EEG abnormality, Decreased testicular s... OMIM:612513
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Spina bifida occulta, Cryptorchidism, Cerebellar atrophy, He... OMIM:193700
Barber-Say Syndrome
Shawl scrotum, Breast aplasia, Abnormal pinna morphology, Hypoplastic nipples, Hearing impairment... ORPHA:1231
Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Microtia, Hypospadias, Cryptorchidism, Intrauterine growth ret... OMIM:300712
Faciodigitogenital Syndrome, Autosomal Recessive
Shawl scrotum, Microtia, Cryptorchidism, Proportionate short stature, Hearing impairment, Posteri... OMIM:227330
Ablepharon Macrostomia Syndrome
Ambiguous genitalia, Abnormality of female external genitalia, Microtia, Hypoplasia of penis, Bre... ORPHA:920
Multiple Metaphyseal Dysplasia