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
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1 OMIM:615961
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis... ORPHA:3216
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Delayed puberty, Conductive hearing impairment, Abnor... ORPHA:90646
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Seckel Syndrome 7
Primary amenorrhea, Intrauterine growth retardation, Central hypothyroidism, Severe short stature... OMIM:614851
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism, Growth delay OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism, Growth delay OMIM:274800
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles OMIM:221300
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Perrault Syndrome 3
Primary amenorrhea, Sensorineural hearing impairment, Microcephaly, Short stature, Congenital sen... OMIM:614129
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Flattened metatarsal heads, Thi... ORPHA:564003
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Microtia, Short stature ORPHA:3459
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
X-Linked Intellectual Disability, Van Esch Type
Intrauterine growth retardation, Cryptorchidism, Decreased serum testosterone concentration, Micr... ORPHA:163976
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Aplasia/H... ORPHA:939
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Progressive sensorineural he... OMIM:615300
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Delayed puberty, Cryptorc... ORPHA:432
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Sensorineural hearing impai... OMIM:617565
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
46,Xy Sex Reversal 4
Hypoplastic labia majora, Recurrent otitis media, Sensorineural hearing impairment, Microtia, Gon... OMIM:154230
Coffin-Siris Syndrome 9
Intrauterine growth retardation, Low-set ears, Growth delay, Decreased response to growth hormone... OMIM:615866
Meckel Syndrome 12
Agenesis of corpus callosum, Low-set ears, Intrauterine growth retardation, Vaginal atresia, Micr... OMIM:616258
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Conductive hearing impairment, Short stature, Bicornuate uterus, Hypoplasia of the u... OMIM:601076
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Primary amenorrhea, Vaginal atresia, Low-set ears OMIM:191830
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Low-set ears, Microtia, Microcephaly, Bilateral cryptorchidism OMIM:617564
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Mosaic Trisomy 14
Cryptorchidism, Microtia, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospadias ORPHA:1703
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Micromelia, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Cupped ear, Amenorrhea, Female infertility, Premature ovarian insufficien... OMIM:110100
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Agenesis of corpus callosum, Cryptorchidism, Vaginal atresia, Microtia, Op... ORPHA:3301
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Abnormality of femoral epiphysis, Ir... ORPHA:750
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Sensorineural hearing impairment, Decreased serum test... OMIM:241080
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Aarskog-Scott Syndrome
Large earlobe, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Dec... OMIM:305400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Cryptorchidism, Micropenis, Vaginal atresia, Pancreatic lymphangiectasis, Abnormali... ORPHA:1655
Wolfram Syndrome 1
Cerebral atrophy, Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Growth de... OMIM:222300
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Severe postnatal growth retardation, Pituitary dwarfism, S... OMIM:262700
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory... ORPHA:2549
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Foot acroosteo... ORPHA:970
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Hearing impairment, Vaginal atresia, Aganglionic megacolon,... OMIM:209900
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Severe postnatal growt... ORPHA:411590
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes, Facial palsy... OMIM:124490
Au-Kline Syndrome
Cryptorchidism, Microtia OMIM:616580
Pendred Syndrome
Vestibular dysfunction, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineur... OMIM:274600
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Hearing impairment, Aplasia/hypoplasia of the uterus, Decreased serum estradi... ORPHA:243
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Gonadal... OMIM:612964
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Intrauterine growth retardation, ... OMIM:611209
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Hemiatrophy, Dense calvaria ORPHA:306741
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Diabetes insipidus, Low-set ears, Intrauterine growth retardation, Conductive hearing impairment,... OMIM:618500
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Micropenis, Conductive hearing impairment, Atresia of the external... OMIM:147770
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microcephaly, Short stature, Microtia OMIM:612530
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Hy... ORPHA:2635
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Low-set ears, Cryptorchidism, Micropenis, Microtia, Abnormality of the septum p... ORPHA:171839
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Smith-Magenis Syndrome
Abnormality of the outer ear, EEG abnormality, Abnormality of the thyroid gland, Short stature, M... OMIM:182290
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Cryptorchidism, Atresia of the external auditory canal, Microtia, Abnormality of th... ORPHA:3429
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Intrauterine growth retardation, Low-set ears, Micropenis, Severe short stature, Microtia, Microc... OMIM:618336
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Central hypothyroidism, Short stature, Postnatal growth retardati... OMIM:616113
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Growth delay, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Caffey Disease
Bowing of the legs, Cortical irregularity, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Micropenis, Aplasia/Hypoplasia ... ORPHA:1926
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Hypothyroidism, Abnormality of the thyroid gland, ... ORPHA:442
Fraser Syndrome 1
Abnormal cortical gyration, Cupped ear, Encephalocele, Myelomeningocele, Low-set ears, Cryptorchi... OMIM:219000
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Small scrotum, Microtia, Hypoplasia of penis, Low-set, p... ORPHA:2983
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Limitation of join... ORPHA:2741
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Small cerebral cortex, Microtia OMIM:608393
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Anterior hypopituitarism, Growth... ORPHA:1435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Sensorineural hearing impairment, Facial palsy, Testicular atrophy, Secondary... OMIM:157640
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Short stature, ... OMIM:301035
Treacher-Collins Syndrome
Rectovaginal fistula, Small scrotum, Cryptorchidism, Conductive hearing impairment, Abnormality o... ORPHA:861
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Severe postnatal growth retardation, Uterus didelphys, Vag... ORPHA:2237
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Coxoauricular Syndrome
Short stature, Microtia, Hearing impairment OMIM:122780
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of tibia morphology,... ORPHA:1525
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Johnson Neuroectodermal Syndrome
Severe short stature, Conductive hearing impairment, Atresia of the external auditory canal, Micr... ORPHA:2316
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Atresia of the external auditory canal, Microtia, Low-set, posteriorly rotate... ORPHA:1770
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Optic nerve hypoplasia, Decreased thyroid-stimulating hormone level, Decrease... ORPHA:226307
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of femur morphology, Micromelia, Reduce... ORPHA:1508
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Limb undergrowth, Micromelia, Massively thickened long bone cortices OMIM:122900
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia OMIM:615363
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Elbow flexion contracture, Micromelia, Flared metaphysis, Hip co... OMIM:601561
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Bone Marrow Failure Syndrome 5
Microcephaly, Short stature, Hypogonadism, Testicular atrophy OMIM:618165
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Femoral-Facial Syndrome
Low-set ears, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Microtia, Long penis, Sh... ORPHA:1988
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Ohdo Syndrome
Small scrotum, Cryptorchidism, Microtia, Stenosis of the external auditory canal, Short stature, ... OMIM:249620
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Short stature, Bicornuate uterus, ... OMIM:601186
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Apert Syndrome
Agenesis of corpus callosum, Cryptorchidism, Rhizomelic arm shortening, Vaginal atresia, Abnormal... OMIM:101200
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Microcephaly, Short stature, Nep... ORPHA:3130
Tetraamelia Syndrome 1
Low-set ears, Adrenal gland agenesis, Vaginal atresia, Absent external genitalia, Hypoplasia of t... OMIM:273395
Spinocerebellar Ataxia Type 32
Azoospermia, Cerebellar atrophy, Male infertility, Testicular atrophy ORPHA:276183
Schinzel-Giedion Syndrome
Large earlobe, Abnormality of the outer ear, Hypoplasia of the corpus callosum, Umbilical hernia,... ORPHA:798
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Testicular atrophy OMIM:613909
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Genu varum, Epiphyseal stippling, Abnormal bone ossification, Coarse me... ORPHA:1952
Pendred Syndrome
Hypothyroidism, Goiter, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality ... ORPHA:705
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Branchiootorenal Syndrome 1
Branchial cyst, Cupped ear, Incomplete partition of the cochlea type II, Euthyroid goiter, Conduc... OMIM:113650
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Low-set ears, Cryptorchidism, Severe short stature, Thyroid agenesis, Thyroid dys... ORPHA:3047
Fraser Syndrome
Small scrotum, Umbilical hernia, Myelomeningocele, Cryptorchidism, Abnormal vagina morphology, Co... ORPHA:2052
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Short stature, Bicornuate uterus, Hearing impairment ORPHA:2578
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Recurrent otitis media, Small scrotum, Intrauterine growth retardat... ORPHA:2728
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Low-set ears, Cryptorchidism, Microtia, Microcephaly, Short stature, Posteriorly r... OMIM:616734
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Microcephaly, Conductive hearing impairment, Short stature, Microtia OMIM:248910
Cowden Syndrome 5
Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele te... OMIM:615108
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Microtia, Short stature, Abnormal antihelix morphology, Abnormal... ORPHA:2145
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora, Wide anterior fontanel, Stenosis o... OMIM:207410
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Microtia, Low-set, posteriorly rotated ears, Microcephaly, Short stature, Delayed... ORPHA:2994
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Testicular atrophy, Facial diplegia, Hypogonadism OMIM:160900
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Cowden Syndrome 6
Hypothyroidism, Varicocele, Thyroid adenoma, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, ... OMIM:615109
Amed Syndrome, Digenic
Microcephaly, Short stature, Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Pallister-Hall Syndrome
Hypothalamic hamartoma, Intrauterine growth retardation, Cryptorchidism, Micropenis, Panhypopitui... OMIM:146510
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Cerebral atrophy, Intrauterine growth retardation, Low-set ears, Micro... ORPHA:447980
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Microcephaly, Impoten... ORPHA:2232
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Short stature, Primary amenorrhea OMIM:617690
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Mccune-Albright Syndrome
Abnormal endocrine physiology, Irregular menstruation, Goiter, Hearing impairment, Increased seru... ORPHA:562
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Cupped ear, EEG abnormality, Small earlobe, Low-set ears, Cryptorchidism, Asymmet... ORPHA:3063
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Sensorineural hearing impairment, Vaginal fistula ORPHA:2597
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone, Hearing impairment OMIM:274300
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Ring Chromosome 12 Syndrome
Hypothyroidism, Glandular hypospadias, Low-set ears, Cryptorchidism, Microtia, Growth delay, Uter... ORPHA:1439
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Lateral Meningocele Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:2789
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Aplasia/Hypoplasia of the corpus ... ORPHA:2166
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia, Periventricular white matter hyperintensities OMIM:618158
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Saethre-Chotzen Syndrome
Low-set ears, Cryptorchidism, Prominent crus of helix, Conductive hearing impairment, Sensorineur... ORPHA:794
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Colpocephaly, Chordee, Agenesis of corpus callosum, Micropenis, Hearing impairment, Mi... OMIM:309801
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Broad hallux, Arachnodactyly, Long hallux, Finger clinodactyly, Epiphyseal dysplasia OMIM:615923
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Abnormal bone structure, Mesomelic ... OMIM:300244
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Abnormality of the metaphy... 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
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism, Short stature, Microtia, Rhizo-meso-acromelic limb shortening ORPHA:163654
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Microtia, Microcephaly, Short stature, Abnormal basal ganglia MRI signal intensity ORPHA:370079
Cowden Syndrome 1
Hypothyroidism, Varicocele, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, He... OMIM:158350
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Rhizomelia, Short 4th metacarpal, Thin bony cortex, Broad thumb, Femoral bo... OMIM:619638
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... ORPHA:1310
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Sensorineural hearing imp... ORPHA:95716
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Lateral Meningocele Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, Short stature, Posteriorly rotated e... OMIM:130720
Brain-Lung-Thyroid Syndrome
Agenesis of corpus callosum, Cavum septum pellucidum, Sensorineural hearing impairment, Abnormali... ORPHA:209905
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Decreased fibular diameter, Arachnodactyly, Long fingers, Fasting hyperinsu... OMIM:619489
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vertebral ossification, Del... ORPHA:93296
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Short stature, Vaginal atresia, Low-set ears OMIM:617088
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Aplasia/Hypoplasia of the corpus c... ORPHA:505237
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Growth delay, Testicular atrophy OMIM:613987
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Crypt... ORPHA:672
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Microtia, Microcephaly, Short stat... OMIM:613804
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia OMIM:612138
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300554
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Hypoplasia of penis ORPHA:2547
Meier-Gorlin Syndrome 6
Hypoplastic labia majora, Delayed puberty, Cryptorchidism, Conductive hearing impairment, Severe ... OMIM:616835
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Van Maldergem Syndrome 2
Hypoplasia of the corpus callosum, Periventricular nodular heterotopia, Cryptorchidism, Micropeni... OMIM:615546
Osteoporosis
Osteoporosis OMIM:166710
Buratti-Harel Syndrome
Low-set ears, Cryptorchidism, Microtia, Posteriorly rotated ears, Hypospadias OMIM:619314
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ciliary Dyskinesia, Primary, 37
Goiter, Infertility, Hearing impairment, Hypothyroidism OMIM:617577
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Peters Plus Syndrome
Intrauterine growth retardation, Optic atrophy, Cryptorchidism, Conductive hearing impairment, Cl... ORPHA:709
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Micropenis, Adrenal hypoplasia, Po... OMIM:614732
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Sweeney-Cox Syndrome
Cupped ear, Low-set ears, Microtia, Overfolded helix, Bilateral cryptorchidism, Wide anterior fon... OMIM:617746
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... ORPHA:166119
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Conductive hearing impairment, Rhizomelia, Atresia of the external auditory canal... OMIM:602471
Kennerknecht Syndrome
Short stature, Hypoplasia of the uterus, Agonadism OMIM:600908
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Goiter OMIM:617175
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Fg Syndrome Type 1
Small pituitary gland, Cupped ear, Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypo... ORPHA:93932
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Short stature, Mitochondrial hypertrophy, Female infertility, P... OMIM:619518
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cerebral atrophy, Low-set ears, Cryptorchidism, Micropenis, Shawl scrotum, Sensorineural hearing ... OMIM:301040
Satoyoshi Syndrome
Short stature, Hypoplasia of the uterus, Amenorrhea OMIM:600705
Acrocephalopolydactyly
Microtia ORPHA:221054
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Decreased cranial base ossification, Meta... OMIM:151210
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Stapes ankylosis, Low-set ears, Short stature OMIM:614701
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Cryptorchidism, Conductive hearing impairment, Microtia, Microce... OMIM:603467
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Low-set ears, EEG with burst suppression, Microc... ORPHA:168486
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Thyrocerebroretinal Syndrome
Goiter, Sensorineural hearing impairment OMIM:274240
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Global brain atrophy, External genital hypoplasia, Microcephaly, Short stature, P... OMIM:612947
Silver-Russell Syndrome
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Abnormal vagina morphology, Premat... ORPHA:813
Meier-Gorlin Syndrome 2
Hypoplastic labia majora, Intrauterine growth retardation, Microtia, Microcephaly, Short stature,... OMIM:613800
20Q11.2 Microduplication Syndrome
Cryptorchidism, Micropenis, Microtia, Growth delay, Severe intrauterine growth retardation, Low-s... ORPHA:363659
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Short palm, Coxa vara ORPHA:168555
Meier-Gorlin Syndrome 5
Small earlobe, Low-set ears, Intrauterine growth retardation, Cryptorchidism, Micropenis, Microti... OMIM:613805
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Osteopenia, Mesomelia, Joint hypermobility OMIM:616229
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Growth delay, Ovarian neoplasm, Short statur... ORPHA:163634
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:52429
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Low-set ears, Rhizomelia, Clitoral hypoplasia, Microtia, Growth delay, Microcephaly, Oligospermia... OMIM:614813
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Disproportionate short-limb short stature, Hypergonadotropic hypogonadi... OMIM:609441
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation test OMIM:618160
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Microtia, Arrhinencephaly, Abnormality of the uterus ORPHA:1788
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Osteopenia, Metaphyseal cupping, Flared metaphysis, Elevated circ... OMIM:619073
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Short stature, Microtia, Cerebral cortical atrophy ORPHA:1834
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Micrognathia, Joint hypermobility OMIM:300831
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Cerebral atrophy, Small scrotum, Low-set ears, Cryptorchidism, Shawl scrotum, Microtia, Growth de... OMIM:601353
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Meier-Gorlin Syndrome 7
Progressive microcephaly, Cryptorchidism, Micropenis, Hearing impairment, Hypospadias, Microtia, ... OMIM:617063
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Cryptorchidism, Microcephaly, Decreased motor nerve conduction velocity, Macrotia, ... OMIM:615419
Treacher Collins Syndrome 3
Abnormality of the outer ear, Conductive hearing impairment, Microtia OMIM:248390
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:264700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Symmetric p... ORPHA:85435
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Osteopenia, 2-3 toe syndactyly, ... OMIM:616809
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Micrognathia, Slender long bone, Abnormal cort... ORPHA:1486
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Microcephaly, Bilateral sensorineural hearing impairment, Macrotia, Th... ORPHA:521445
Distal Tetrasomy 15Q
Cupped ear, Abnormal helix morphology, Low-set ears, Intrauterine growth retardation, Sensorineur... ORPHA:314588
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Aplasia/Hypoplasia... ORPHA:1350
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Rhizomelia, 11 pairs of ribs, Decreased skull ossifica... OMIM:300863
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormality of... ORPHA:99852
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:241530
Hypertelorism-Microtia-Facial Clefting Syndrome
Severe short stature, Conductive hearing impairment, Atresia of the external auditory canal, Micr... ORPHA:2213
Distal Monosomy 17Q
Microtia, Low-set, posteriorly rotated ears, Microcephaly, Short stature, Optic atrophy ORPHA:1597
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Micrognathia, Thin bo... ORPHA:85184
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density ORPHA:1114
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia, Pericallosal lipoma, Microcephaly, Encephalocele ORPHA:398156
Peters-Plus Syndrome
Cryptorchidism, Microcephaly, Protruding ear, Birth length less than 3rd percentile, Hypoplastic ... OMIM:261540
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Hemifacial Atrophy, Progressive
Microtia, Horner syndrome OMIM:141300
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Micropenis, Supernumerary nipple, Microtia, Microcephaly, Short stature, Hypospadias OMIM:141750
Distal Monosomy 9P
Hypoplastic labia majora, Abnormal helix morphology, Microtia, Low-set, posteriorly rotated ears,... ORPHA:1642
Meier-Gorlin Syndrome 1
Hypoplastic labia majora, Incomplete partition of the cochlea type II, Intrauterine growth retard... OMIM:224690
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Sensorineural hearin... OMIM:146255
Hand-Foot-Genital Syndrome
Microtia, Miscarriage, Abnormality of the uterus, Bicornuate uterus, Abnormality of the urethra, ... ORPHA:2438
Branchiogenic-Deafness Syndrome
Branchial cyst, Sensorineural hearing impairment, Atresia of the external auditory canal, Short s... OMIM:609166
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory respon... OMIM:617519
Schilbach-Rott Syndrome
Microtia, Microcephaly, Short stature, Posteriorly rotated ears, Hypospadias OMIM:164220
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Achondrogenesis
Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral density ORPHA:932
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the incus, Low-se... ORPHA:949
Catifa Syndrome
Microtia OMIM:618761
47,Xyy Syndrome
Varicocele, Low-set ears, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone l... ORPHA:8
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fibular hypopl... OMIM:200700
Rhabdomyosarcoma, Embryonal, 2
Goiter, Thyroid nodule, Multinodular goiter, Ovarian thecoma OMIM:180295
Meier-Gorlin Syndrome 3
Small scrotum, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Micropenis, Hypopla... OMIM:613803
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsulinemia, Insulin-resistant d... OMIM:203800
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Microtia, Microcephaly, Short stature, Posteriorly rotated ears OMIM:618089
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Mullegama-Klein-Martinez Syndrome
Low-set ears, Sensorineural hearing impairment, Microtia, Microcephaly, Short stature OMIM:301022
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:601390
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Hypoplastic labia majora, Intrauterine growth retardation, Low-set ... ORPHA:2554
Short Stature-Obesity Syndrome
Short stature, Microtia OMIM:269870
Charge Syndrome
Abnormal cranial nerve morphology, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:138
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Microtia, Low-set, posteriorly rotated ears, Microcephaly, Spina... ORPHA:1327
Trisomy 8P
Agenesis of corpus callosum, Cryptorchidism, Conductive hearing impairment, Micropenis, Aplasia/H... ORPHA:264450
6Q16 Microdeletion Syndrome
Microtia, Abnormal ear morphology, Low-set ears ORPHA:171829
20P12.3 Microdeletion Syndrome
Short stature, Thickened helices, Microtia ORPHA:261295
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Short stature, Simple ear, Vaginal fistula OMIM:619318
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Adrenal hypoplasia, Short stature, Umbilical hernia, Thyroi... OMIM:308050
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microtia, Spina bifida, Short stature, Mesomelic/rhizomelic limb shortening, Abn... ORPHA:2839
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Bor Syndrome
Branchial cyst, Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqu... ORPHA:107
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Growth delay OMIM:274400
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Low-set ears, Microtia, Posteriorly rotated ears, Protruding ear OMIM:618829
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Ollier Disease
Micromelia, Abnormality of the metaphysis, Osteolysis, Joint stiffness ORPHA:296
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal bone structure, Osteomala... ORPHA:93160
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Joint stiffness, Micrognathia, Micromelia, Abnormality of... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Limb undergrowth ORPHA:156728
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Short ribs, Squared iliac bones, Limb undergrowth, Short long bone, Metaphyseal wi... OMIM:618961
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Osteomalacia, Decreased circulating parathyroid hor... ORPHA:157215
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Conductive hearing impairment, Microtia,... ORPHA:314679
Chromosome 16Q22 Deletion Syndrome
Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Growth delay, Microcephaly, Poste... OMIM:614541
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
16P13.11 Microdeletion Syndrome
EEG abnormality, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Sensorineural hearing... ORPHA:261236
Zechi-Ceide Syndrome
Abnormal helix morphology, Low-set ears, Conductive hearing impairment, Microtia, Abnormal earlob... ORPHA:217017
Chromosome 18Q Deletion Syndrome
Optic atrophy, Cryptorchidism, Conductive hearing impairment, Micropenis, Atresia of the external... OMIM:601808
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Joint laxity, Micrognath... OMIM:617952
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:277440
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Abnormal external genitalia, Postnatal growth retardation, Protruding ear ORPHA:231140
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Mesomelia, Short foot OMIM:611263
Kapur-Toriello Syndrome
Hypoplastic labia majora, Dysplastic corpus callosum, Low-set ears, Atresia of the external audit... ORPHA:2328
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Proteus Syndrome
Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis OMIM:176920
14Q22Q23 Microdeletion Syndrome
Small scrotum, Cupped ear, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, An... ORPHA:264200
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Postaxial Acrofacial Dysostosis
Cupped ear, Conductive hearing impairment, Supernumerary nipple, Microtia, Low-set, posteriorly r... ORPHA:246
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Cupped ear, Colpocephaly, Agenesis o... OMIM:618619
Hypercholanemia, Familial 1
Rickets OMIM:607748
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Intrauterine growth retardation, Cryptorchidism, Micropenis, Shawl scrotum, Microtia, Male pseudo... ORPHA:2282
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Micropenis, Conductive hearing impairment, Supernumerary nipple, Atresia of the external auditory... OMIM:106260
Short Stature And Facioauriculothoracic Malformations
Cupped ear, Low-set ears, Microtia, Microcephaly, Overfolded helix, Proportionate short stature OMIM:609654
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Abnormality of the u... ORPHA:2143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Occipital encephalocele, Atres... OMIM:236670
Achondrogenesis Type 1A
Short palm, Abnormal enchondral ossification, Recurrent fractures, Micrognathia, Micromelia, Shor... ORPHA:93299
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Vaginal atresia, Transverse vaginal septum, Aganglionic meg... OMIM:236700
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Abnormality of the thyroid gland, Abnormality of the... ORPHA:201
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormal hippocampus morphology, Microtia, Lop ear, Overfolded helix, Cerebral white matter hypop... ORPHA:436003
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300009
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Precocious puberty, Intrauterine growth retardation, Postnatal... ORPHA:254525
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Progressive conductive hearing impairment, Bilat... OMIM:186500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Metaphyseal s... OMIM:608728
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Hypoplasia of the radius, Metatarsus adductus, Micromeli... ORPHA:2249
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Intrauterine growth retardation, Microtia, Microcephaly, Disproportionate short stature, Precocio... OMIM:210720
Vacterl With Hydrocephalus
Abnormality of the outer ear, Intrauterine growth retardation, Cryptorchidism, Spina bifida, Abno... ORPHA:3412
Cryptomicrotia-Brachydactyly Syndrome
Microtia, Chordee, Bifid scrotum OMIM:123560
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Intrauterine growth retardation, Low-set ears, Dysmenorrhea, Cryptorchidism, Smal... ORPHA:397590
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Joint contracture of the hand OMIM:601016
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Meacham Syndrome
Cryptorchidism, Abnormal vagina morphology, Vaginal atresia, Hypoplasia of penis, Hydrometrocolpo... ORPHA:3097
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Microtia, Absent antihelix, Microcephaly, Short stature ORPHA:293939
Gms Syndrome
Microcephaly, Microtia, Proportionate short stature, Low-set ears OMIM:138770
Aymé-Gripp Syndrome
EEG abnormality, Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Microtia, Short ... ORPHA:1272
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Low-set ears ORPHA:357175
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Microtia, Growth delay, Hearing impairment OMIM:616006
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Achondrogenesis Type 1B
Abnormal enchondral ossification, Micrognathia, Micromelia, Talipes equinovarus, Short foot ORPHA:93298
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Intermediate Osteopetrosis
Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susceptibility to fractu... ORPHA:210110
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abno... ORPHA:2631
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Low-set ears OMIM:615162
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptibility to fractures, Osteoma... ORPHA:289157
Hypertelorism, Microtia, Facial Clefting Syndrome
Microcephaly, Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:239800
Distal Monosomy 12Q
Unilateral cryptorchidism, Low-set ears, Prominent ear helix, Micropenis, Microtia, Growth delay,... ORPHA:96149
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Short metacarpal, Sandal gap, Flared femoral meta... ORPHA:1427
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Hypogonadotropic hypogonadism, Decreased circulating follicle sti... ORPHA:453533
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Blepharochalasis And Double Lip
Goiter OMIM:109900
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Abnormal trabecular bone morphology, Increased bo... ORPHA:289176
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Intrauterine growth retardation, Microtia, Optic atrophy, Hearing impairment ORPHA:1914
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Microtia, Agenesis of corpus callosum OMIM:616854
Townes-Brocks Syndrome 2
Rectovaginal fistula, Cupped ear, Microtia, Bifid uterus, Overfolded helix, Spina bifida occulta,... OMIM:617466
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Atretic vas deferen... OMIM:137920
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis, Short stature ORPHA:226292
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Optic nerve hypoplasia, Decreased response to growth hormone ... ORPHA:95494
Down Syndrome
Hypothyroidism, Conductive hearing impairment, Aganglionic megacolon, Microtia, Short stature OMIM:190685
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Low-set ears, Atresia of the external auditory canal, Short stature, Pseudopapilledema, Decreased... OMIM:264475
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Low-set ears, Cryptorchidism, Growth delay, Posteriorly rotated ears, Secondary... OMIM:179613
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal ossification, Premat... ORPHA:93352
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Cryptorchidism, Micropenis, Anteverted ears, Microtia, Growth delay, Hypoplastic he... OMIM:617641
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Ovotestis, Hypothyroidism, Chordee, Cryptorchidism, Male infertility, Bil... ORPHA:1772
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Joint hyperflexibility ORPHA:40
Acitretin/Etretinate Embryopathy
Cupped ear, Microtia, Microcephaly, Bilateral sensorineural hearing impairment, Hypoplasia of the... ORPHA:40366
Beta-Mercaptolactate Cysteine Disulfiduria
EEG abnormality, Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Short statur... ORPHA:1035
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Cryptorchidism, Microcephaly, Short stature, Postnatal growth retardation, Hearing ... OMIM:613792
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Joint hyperflexibility, Cone-shaped epiphyses of the phalan... ORPHA:2484
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Limitation of jo... ORPHA:2633
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Microtia, Low-set ears OMIM:613603
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cryptorchidis... OMIM:604292
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Cryptorchidism, Micropenis, Severe intrauterine growth retardation, Microcephaly, P... OMIM:241410
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Low-set ears, Micropenis, Uterus didelphys, Microtia, Neonata... OMIM:617925
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma ORPHA:319487
Cornelia De Lange Syndrome 5
Cryptorchidism, Hearing impairment, Micropenis, Microcephaly, Short stature, Postnatal growth ret... OMIM:300882
Warburg Micro Syndrome 2
Hypoplastic labia majora, Small scrotum, Cryptorchidism, Micropenis, Global brain atrophy, Asymme... OMIM:614225
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Craniofacioskeletal Syndrome
Absent gallbladder, Intrauterine growth retardation, Cryptorchidism, Microtia, Microcephaly, Shor... OMIM:300712
Otofaciocervical Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Short stature, Abnormal an... ORPHA:2792
Achondrogenesis, Type Ib
Micromelia, Short ribs, Absent or minimally ossified vertebral bodies, Hypoplastic ilia OMIM:600972
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Microcephaly, Postnatal ... OMIM:193700
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Intrauterine growth retardation, Sensorineural hearing impai... ORPHA:2315
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Pineal cyst, Microtia, Secondary amenorrhea, Otosclerosis, Progressive co... ORPHA:529962
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Cousin Syndrome
Microtia, first degree, Rhizomelia, Hydranencephaly, Ambiguous genitalia, female, Ambiguous genit... OMIM:260660
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Cryptorchidism, Micropenis, Abnormal cerebral white matter morphology, Abn... ORPHA:284339
Acrootoocular Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Atresia of the ext... ORPHA:2980
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Infertility, Ectopic anterior pituitary gland, Amenorrhea, Delayed... ORPHA:90695
Intellectual Developmental Disorder, Autosomal Dominant 1
Abnormality of the outer ear, Cupped ear, Low-set ears, Microtia, Microcephaly, Short stature, Pr... OMIM:156200
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Short stature, Microtia, Hearing impairment OMIM:619056
Warburg Micro Syndrome 3
Small scrotum, Secondary microcephaly, Micropenis, Hypoplastic labia minora, Microcephaly, Cerebr... OMIM:614222
7Q11.23 Microduplication Syndrome
Large earlobe, Cryptorchidism, Aplasia/hypoplasia of the uterus, Growth delay, Low-set, posterior... ORPHA:96121
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632