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Gene: Tshr MGI:98849

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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:
thyroid stimulating hormone receptor
Synonyms:
hyt,  hypothroid,  pet

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 Tshr 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 predicted to be associated to Tshr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma OMIM:188470
Thyroid Cancer, Nonmedullary, 5
Non-medullary thyroid carcinoma OMIM:616535
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Thyroid Cancer, Nonmedullary, 3
Non-medullary thyroid carcinoma OMIM:606240
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... OMIM:609698
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... OMIM:262700
Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty OMIM:615961
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Blepharochalasis And Double Lip
Goiter OMIM:109900
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Wolfram-Like Syndrome
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... ORPHA:411590
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Short stature OMIM:275120
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... OMIM:275100
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... OMIM:620211
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98797
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature ORPHA:95720
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Short stature OMIM:618625
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... OMIM:616784
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hypogonadism... ORPHA:3363
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility OMIM:264300
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Athyreosis
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature ORPHA:95713
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Senso... ORPHA:3152
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... ORPHA:2790
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... OMIM:618985
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... OMIM:614450
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... ORPHA:3416
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Bangstad Syndrome
Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility ORPHA:752
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Ck Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hyperlordosis, Kyphosis, Micrognath... OMIM:300831
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hawkinsinuria
Hypothyroidism ORPHA:2118
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Aggressive behavior, Short neck, Elbow flexion contr... OMIM:616809
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Short stature ORPHA:2349
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hy... OMIM:612526
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, P... ORPHA:95496
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300425
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Gne Myopathy
Hypothyroidism ORPHA:602
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Isochromosomy Yq
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98798
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Autism
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:607373
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent fingertip pads, Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion ... ORPHA:391372
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... ORPHA:163634
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... ORPHA:1332
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism OMIM:619908
Li-Campeau Syndrome
Cryptorchidism, Hypothyroidism, Short stature OMIM:619189
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diastrophic Dysplasia
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... ORPHA:628
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Intrauterine ... OMIM:618347
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Hypothyroidism, Se... OMIM:600430
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Short stature ORPHA:2491
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hyperactivity, Sandal gap, Craniosynostosis, Short neck, Ext... ORPHA:254346
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Elevated circulating thyroid-stimulating hormone concentration, Sh... OMIM:101800
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Micrognathia, Abnormal repetitive mannerisms, Sensorineural hearing i... ORPHA:2479
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Tapered finger, Aggressive be... OMIM:609425
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Small for gestational age, Asymmetry of the ears, Overweight... OMIM:617796
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Osteoporosis, Obesity, Short metatarsal, Pseudohypoparat... OMIM:103580
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... ORPHA:2994
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Hypothyroidism, ... ORPHA:363528
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia, Abnormal repet... OMIM:610883
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:608636
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Increased skull ossification, Optic atrophy, Self-injurious behavior OMIM:619690
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Micrognathia, Cryptorchidism, Repetitive compulsive beh... ORPHA:352490
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenome... ORPHA:79237
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Brachydactyly, Hitchhiker thumb, Intervertebral space narrowing, Micrognathia, ... OMIM:614078
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... OMIM:265900
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyp... ORPHA:970
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:320401
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Small hand, Short foot, Self-injurious behavior, Arthrogryposis multiplex congenita, Abnormal rep... OMIM:615282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, C... OMIM:616817
Intellectual Developmental Disorder With Autism And Speech Delay
Joint laxity, Abnormal repetitive mannerisms OMIM:606053
Seckel Syndrome 7
Intrauterine growth retardation, Severe short stature, Primary amenorrhea, Central hypothyroidism OMIM:614851
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Conductive hearing impairment, Pathologic fracture, Thin bo... OMIM:174810
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism ORPHA:1923
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Smith-Magenis Syndrome
Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Abnormal repet... ORPHA:819
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hyperactivity, Cryptorchidism, Short metatarsal, Advanced os... OMIM:614613
Cholesteryl Ester Storage Disease
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosi... ORPHA:391408
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:95717
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Xerostomia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone ... ORPHA:398079
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... ORPHA:77296
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism ORPHA:95712
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Azoo... OMIM:615234
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Arachnodactyly, Adducted thumb, Dysphagia, Abnormal motor evoked potentials, Hypogonadism, Infert... ORPHA:412057
Otospondylomegaepiphyseal Dysplasia
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... OMIM:241530
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Brachydactyly, Abnormal morphology of the radius, Abnor... ORPHA:950
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Familial Hyperprolactinemia
Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal scler... ORPHA:2905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism, Short stature OMIM:619013
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Cryptorchidism, Anemia, Talipes equinovarus, Low-set ears, Camptodactyly, Decreased c... OMIM:608104
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism ORPHA:99927
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypothyroidis... ORPHA:3258
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Small for gestational age, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th fing... ORPHA:397590
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short stature, Abnormality of the t... ORPHA:209905
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Short stature OMIM:618999
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... OMIM:151210
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Sensorineural hearing impairment,... OMIM:609616
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Mesomelia, ... ORPHA:2631
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis ORPHA:1563
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Jung Syndrome
Hypothyroidism ORPHA:2321
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Atelis Syndrome 1
Glue ear, Lumbar kyphosis, Anemia, Leukopenia, Microtia, Attention deficit hyperactivity disorder... OMIM:620184
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... OMIM:255800
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Sensorineural hearing impairment, Hypsarrhythmia, Iron deficiency anemia, Low-set e... OMIM:607906
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... ORPHA:96179
46,Xx Gonadal Dysgenesis
Osteopenia, Premature ovarian insufficiency, Streak ovary, Arachnodactyly, Increased circulating ... ORPHA:243
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Laron Syndrome
Delayed menarche, Decreased serum insulin-like growth factor 1, Limb undergrowth, Short long bone OMIM:262500
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... OMIM:615952
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abnormal re... ORPHA:449291
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Micrognathia, Limitation of j... ORPHA:1486
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Hypothyroidism, Short phalanx of f... ORPHA:221008
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Delayed puberty, Type I ... ORPHA:213
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... ORPHA:40
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... ORPHA:300298
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Arthrogryposis, Distal, Type 2A
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi... OMIM:193700
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Compulsive behaviors, Hypotha... ORPHA:398069
Ollier Disease
Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi... ORPHA:296
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Seco... OMIM:613313
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... OMIM:607944
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper... ORPHA:457240
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc... ORPHA:739
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... ORPHA:166002
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Decreased nerve conduction ... ORPHA:2928
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Coxa valga, ... ORPHA:2484
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Posteriorly rotated ears, Small for gestational age, D... OMIM:616897
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... OMIM:307800
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypercholesterolemia, Hypertriglyceridemia, Hyp... ORPHA:528
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Absent thumb, Shor... OMIM:609053
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Smith-Magenis Syndrome
Hyperactivity, Hearing impairment, Abnormality of the thyroid gland, Abnormal repetitive manneris... OMIM:182290
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, Macrotia, 2-... ORPHA:391307
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Abnormal repetitive... OMIM:619470
Ddost-Cdg
Short stature, Primary hypothyroidism ORPHA:300536
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteopor... OMIM:184260
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Abnormal shoulder morphology, Joint hype... ORPHA:10
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Progressive sensorineural hearin... OMIM:125250
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Splenomegaly, Thoracolumbar kyphosis, Optic atrophy, Hypoplastic ver... OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes... ORPHA:231222
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Diabetes mellitus, Congenital sensorineural hearing impairment, Sensorineural heari... ORPHA:500159
Acrocephalopolydactyly
Short neck, Hepatosplenomegaly, Short long bone, Microtia, Limb undergrowth, Brachydactyly ORPHA:221054
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Posteriorly rotated e... OMIM:613385
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow... OMIM:278000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... OMIM:616222
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Down Syndrome
Joint laxity, Sandal gap, Aganglionic megacolon, Short neck, Obesity, Decreased fertility, Clinod... ORPHA:870
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Abnormal vertebral morphology, Attention deficit hyperactivity di... OMIM:618709
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Congenita... ORPHA:456312
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Short stature OMIM:619750
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide distal femoral met... OMIM:613320
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Isolated Atp Synthase Deficiency
Hypogonadism, Hypothyroidism, Short stature ORPHA:254913
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abn... OMIM:615541
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe... ORPHA:2965
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Glycogen Storage Disease Ixa1
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Grant Syndrome
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... ORPHA:2097
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms, Scoliosis OMIM:617393
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Christianson Syndrome
Cachexia, Joint hyperflexibility, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex con... ORPHA:85278
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Nephrotic Syndrome, Type 1
Growth delay, Hypothyroidism OMIM:256300
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... OMIM:176920
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pycnodysostosis
Decreased response to growth hormone stimulation test, Micrognathia, Generalized osteosclerosis, ... ORPHA:763
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Hypogonadotropic hypogonadism, Cryptorch... ORPHA:432
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Joint hyper... OMIM:620065
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Abnor... ORPHA:453499
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Hypogonadi... ORPHA:98673
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnorm... ORPHA:93160
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Self-injurious behavior... ORPHA:238750
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype... ORPHA:3206
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Hearing abn... ORPHA:1842
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300495
Reni Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Metatarsus adductus, Self-biting, Microtia, Stereotypical body ... ORPHA:293939
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperfl... ORPHA:2772
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, M... OMIM:211750
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc... ORPHA:177
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation te... ORPHA:488632
Lig4 Syndrome
Growth delay, Cryptorchidism, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... OMIM:609441
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Microm... ORPHA:93329
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Type II diabetes mellitus, Amenorrhea OMIM:606593
Dominant Beta-Thalassemia
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... ORPHA:231226
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Hearing impairment OMIM:560000
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered f... OMIM:300998
Oculoskeletodental Syndrome
Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Thoracic kyph... OMIM:618440
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... OMIM:601455
Chromosome 1P35 Deletion Syndrome
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Increas... OMIM:617930
Neuhauser Syndrome
Osteopenia, Arachnodactyly, Micrognathia, Cupped ear, Genu valgum, Large fleshy ears, Primary hyp... OMIM:249310
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Fragile X Tremor/Ataxia Syndrome
Premature ovarian insufficiency, Impotence, Disinhibition, Obsessive-compulsive trait, Hypothyroi... OMIM:300623
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Coffin-Siris Syndrome 7
Brachydactyly, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Sagittal craniosy... OMIM:618027
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Hepatosplenomegaly, Abnormal diaphysis morp... ORPHA:354
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Macrocephaly-Developmental Delay Syndrome
Microretrognathia, Craniosynostosis, Hepatosplenomegaly, Abnormal speech discrimination, Self-inj... ORPHA:397612
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Hyperactivity, Small for gestational age, Abnorm... OMIM:123450
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Short stature, Abnormality of thyroid physiology ORPHA:59
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia ORPHA:3000
Baker-Gordon Syndrome
Joint laxity, EEG abnormality, Self-injurious behavior, Scoliosis, Abnormal repetitive mannerisms OMIM:618218
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, ... ORPHA:1035
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Back pain, Toe syndactyly, Lumbar hyperlordosis, Decreased response to growth hormo... OMIM:619234
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Hypothyroidism, Short stature ORPHA:85321
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... ORPHA:56304
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi... OMIM:614114
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Cryptorchidism, Kyphosis, Hip dislocation, Protruding ear, Join... ORPHA:96169
Image Syndrome
Metaphyseal dysplasia, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism, Low-set ears ORPHA:85173
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Hip dislocation, Neutropenia, Limb undergrowth, Joint contracture, Fa... OMIM:618005
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... ORPHA:453510
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Short stature, Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... ORPHA:231214
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the autonomic nervous system, ... ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l... ORPHA:508533
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for ... OMIM:614104
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Small for gestational age, Craniosynostosis, Long fingers, Self-injurio... OMIM:613174
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Hyperostosis, Abnormal pelvic girdle ... OMIM:144750
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... ORPHA:1667
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... OMIM:180870
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets, Bilateral sensorineural hearing impairment OMIM:602722
Adiposis Dolorosa
Xerostomia, Hypothyroidism ORPHA:36397
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, K... OMIM:212065
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Failure to thrive, Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Proximal p... OMIM:212066
Laron Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Delayed puberty ORPHA:633
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Failure to thrive in infancy, Tapered finger, Micrognathia, Protruding ... OMIM:618829
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Osteoporosis, Optic atrophy, Hepatosplenomegaly, Weight los... OMIM:619487
Autosomal Dominant Dopa-Responsive Dystonia
Paresis of extensor muscles of the big toe, Progressive flexion contractures, Talipes equinovarus... ORPHA:98808
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar... OMIM:619638
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Anorexia, Vertebral clefting, Increased suscept... OMIM:241500
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight OMIM:614063
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... ORPHA:769
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnor... ORPHA:1803
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Micrognathia, Sensorineural hearing impairment, Bruxism, Prot... OMIM:618342
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Joint stiffness, Abnormality of the humerus, Micrognathia, Abnormal ti... ORPHA:2496
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Posteriorly rotated ears, Micromelia, Bowing of the legs, Hypoplastic ilia, Cry... ORPHA:1865
Immunodeficiency 102
Hypothyroidism OMIM:301082
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... OMIM:611590
Alexander Disease
Osteopenia, Diabetes mellitus, Facial palsy, Short neck, Precocious puberty, Hyperlordosis, Kypho... ORPHA:58
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Tics, Low-set ears, Attention deficit hyp... OMIM:617808
Thanatophoric Dysplasia
Brachydactyly, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint... ORPHA:2655
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Hemochromatosis, Type 4
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... OMIM:606069
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Primrose Syndrome
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... OMIM:259050
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetitive manner... OMIM:618906
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Low-set ears, Ove... OMIM:619092
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... ORPHA:2176
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Timothy Syndrome
Hypothyroidism OMIM:601005
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Abnormal repetitive mannerisms, Generalized joint laxity, Acetabular dysplasia ORPHA:280763
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner... OMIM:619150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal antihelix mor... ORPHA:2145
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Abnormal 5th finger ... ORPHA:1439
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Overfriendliness, Posteriorly rotated ears, Tapered finger, Cryptorchidism, Flexion... OMIM:619293
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Macrotia, Bulimia, Central hypothyroidism, Hypsarrhythmia, Se... OMIM:300912
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... ORPHA:435638
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory ... ORPHA:909
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Hypothyroidism OMIM:619147
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... ORPHA:2636
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Microform Holoprosencephaly
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... ORPHA:280200
Monosomy 18Q
Failure to thrive, Arachnodactyly, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, Hypo... ORPHA:1600
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... OMIM:618922
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... OMIM:176270
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs ORPHA:156728
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Protruding ear, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Protruding ear, ... ORPHA:363958
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Limitation of ... ORPHA:1801
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Abnormal repetitive manneri... OMIM:620073
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Hypothyroidism OMIM:617713
Pachydermoperiostosis
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... ORPHA:2796
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Short neck, H... ORPHA:2616
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Diabetes mellitus, Thoracolumbar scoliosis, Sagittal craniosynostosis, Splenomegaly, ... OMIM:610199
Pontocerebellar Hypoplasia, Type 11
Decreased body weight, Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactiv... OMIM:617695
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... ORPHA:666
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Intrauterine growth retardation, Growth delay, Hypothyroidism ORPHA:66634
Achondrogenesis Type 1A
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Shor... ORPHA:93299
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... ORPHA:2658
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Ritscher-Schinzel Syndrome 4
Ulnar deviation of the hand, Impulsivity, Tapered finger, Aggressive behavior, Cryptorchidism, Hi... OMIM:619435
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Dent Disease 1
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Obesity, Hand polydactyly, Atte... ORPHA:261197
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... ORPHA:412
Lamb-Shaffer Syndrome
Hyperactivity, Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyp... ORPHA:530983
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Central hypothyroidism, Progressiv... ORPHA:514
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po... ORPHA:453504
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Growth delay, Hypothyroidism OMIM:226300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po... ORPHA:352665
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Thanatophoric Dysplasia Type 1
Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Joint stiffness, Hypoplastic il... ORPHA:1860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Cryptorchid... OMIM:616331
Activated Pi3K-Delta Syndrome
Splenomegaly, Arthritis, B lymphocytopenia, Recurrent otitis media, Failure to thrive, Hearing im... ORPHA:397596
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Dysphagia, Short foot, Agitation, Scoliosis, Bruxism, Abnormal repetitive m... OMIM:617435
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Truncal obesity, Limb underg... OMIM:616541
Achondrogenesis
Micromelia, Micrognathia, Short neck, Abnormal enchondral ossification, Abnormality of bone miner... ORPHA:932
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Optic atrophy,... OMIM:268315
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Short neck, Conductive hearing impairment, S... ORPHA:1001
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo... ORPHA:1597
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly ORPHA:1277
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Achondrogenesis Type 1B
Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Short foot, Talipes equin... ORPHA:93298
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Overlapping toe, Splenomegaly, Exocrine pancreatic insufficiency, Hip dislocation, ... OMIM:618268
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed pube... OMIM:616263
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane... ORPHA:2909
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlo... ORPHA:2637
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M... OMIM:620005
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemia, Infer... OMIM:212750
Oculodentodigital Dysplasia
Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodies, Clinodactyly of the ... ORPHA:2710
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Aggressive behavior, Obesity... OMIM:618430
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Schinzel-Giedion Syndrome
Short neck, Micrognathia, Tibial bowing, Myeloid leukemia, Streak ovary, Wide anterior fontanel, ... ORPHA:798
Aicardi-Goutieres Syndrome 1
Short stature, Hypothyroidism, Diabetes insipidus OMIM:225750
Sclerosteosis 1
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Irregular menstruation, 2-3 finger syn... OMIM:269500
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Scoliosis, Recurrent... OMIM:617751
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypothyroidism OMIM:603736
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neu... ORPHA:228426
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Sandal gap, Proximal pla... ORPHA:79324
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth ho... ORPHA:1855
Martin-Probst Syndrome
Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Hypothyroidism OMIM:300519
Foxg1 Syndrome
Kyphoscoliosis, Scoliosis, Bruxism, Decreased body weight, Abnormal repetitive mannerisms, Paroxy... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 42
Tapered finger, EEG with burst suppression, Congenital hypothyroidism, Hypsarrhythmia, Hand clenc... OMIM:616973
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu... ORPHA:221016
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
1P36 Deletion Syndrome
Abnormality of the spleen, Clinodactyly of the 5th finger, Conductive hearing impairment, Hypothy... ORPHA:1606
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type II diab... OMIM:615812
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Short neck, Metaphyseal... OMIM:612813
3-Methylglutaconic Aciduria Type 7
Growth delay, Hypothyroidism ORPHA:445038
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab... OMIM:617102
Whipple Disease
Cachexia, Anorexia, Splenomegaly, Arthritis, Erectile dysfunction, Polydipsia, Hypothyroidism, An... ORPHA:3452
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Osteoporosis, Facial diplegia, Dysphagi... ORPHA:254892
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Thanatophoric Dysplasia Type 2
Hearing impairment, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, P... ORPHA:93274
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Pelviscapular Dysplasia
Brachydactyly, Congenital hip dislocation, Abnormal pinna morphology, Short femur, Hypoplastic sc... ORPHA:93333
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... OMIM:619260
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, ... OMIM:617527
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Abnormal morphology... ORPHA:2633
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... ORPHA:2671
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm ORPHA:168555
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... ORPHA:2457
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Micrognathia, Protruding ear, Compulsive behaviors, Chronic otitis media, Ab... ORPHA:534
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, Hyperlordosis, 2-3 toe s... OMIM:618870
Wilson Disease
Back pain, Abnormality of the menstrual cycle, Aggressive behavior, Splenomegaly, Hypersexuality,... ORPHA:905
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Radio-Tartaglia Syndrome
Brachydactyly, Impulsivity, Tapered finger, Precocious puberty, Aggressive behavior, Micrognathia... OMIM:619312
Spondyloocular Syndrome
Osteopenia, Long toe, Posteriorly rotated ears, Unilateral cryptorchidism, Arachnodactyly, Femur ... OMIM:605822
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Advanced ossification of carpal bones, Obesity, Recu... OMIM:616831
Secondary Short Bowel Syndrome
Growth delay, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Mogs-Cdg
Absent brainstem auditory responses, Thoracic scoliosis, Sensorineural hearing impairment, Optic ... ORPHA:79330
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... ORPHA:1901
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypothyroidism, Supernumerary nipple, Hypohidrosis ORPHA:1812
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, 2-3 toe cutaneous syndactyly, Repetitive compulsive behavior, Bruxism, Dysphagia,... OMIM:300260
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Kleefstra Syndrome 1
Brachydactyly, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Obesity, Talipes e... OMIM:610253
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Arachnodactyly, Aggressive behavior, Hyperlordosis, Micrognathia, Self-injurious be... OMIM:300986
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal earlobe morphology, Bifi... ORPHA:2769
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Sensorineural hearing impairment, Rickets, Increased susceptibili... ORPHA:18
White-Sutton Syndrome
Joint laxity, Overfriendliness, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, ... OMIM:616364
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Impulsivity, Aggressive behavior, Micrognathia, Cupped ear, 2-3 toe syndactyly, Self-... OMIM:618914
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Hyperactivity, Sacral dimple, Failure to thrive in infa... ORPHA:261323
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... OMIM:613848
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly ... ORPHA:800
Cockayne Syndrome A
Hip contracture, Anhidrosis, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decr... OMIM:216400
2Q23.1 Microdeletion Syndrome
Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavior, Hip dysplasia, Sh... ORPHA:228402
Slc39A8-Cdg
Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi... ORPHA:468699
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Tapered finger, Aggressive behavior, Kyphosis, Micrognathia, 2-3 toe syndactyly, Self... OMIM:617061
Pallister-Hall Syndrome
Thyroid hypoplasia, Short stature, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adreno... ORPHA:672
Gapo Syndrome
Dysmenorrhea, Micrognathia, Optic atrophy, Amenorrhea, Abnormal form of the vertebral bodies, Oli... ORPHA:2067
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, 2-3 toe syndactyly, Low-set ears OMIM:613443
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Micrognathia, Dysphagia, Bilateral conductive hearing impairment, Low-... OMIM:617802
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Short metacarpal, Hypergonadotropic hypogonadism, Short fifth met... ORPHA:79444
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Chronic neutropenia, Osteoporosis, Irregular menstruation, Gout, Increased susceptibi... ORPHA:79259
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... OMIM:617675
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Odontochondrodysplasia
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... ORPHA:166272
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess ORPHA:89937
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Overlapping toe, Tapered finger, Optic atrophy, Prominent antihelix, Hip dysplasia, Bilateral tal... OMIM:617807
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Flexion contracture, EEG with focal sharp waves, Hypsarrhythmia, EEG w... ORPHA:79243
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Irregular mens... OMIM:616482
Cockayne Syndrome B
Anhidrosis, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potent... OMIM:133540
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... OMIM:109120
Chromosome 15Q11.2 Deletion Syndrome
Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Micrognathia, Abnor... OMIM:615656
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Posteriorly rotated ears, Sandal gap, Overweight, Small hand, Obesity... OMIM:619229
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... OMIM:617952
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Kyphosco... OMIM:309583
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia, Anemia ORPHA:2668
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... ORPHA:411986
Trisomy 10P
Thumb contracture, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked ... ORPHA:171929
Kinsship Syndrome
Osteopenia, Sacral dimple, Coxa valga, Short neck, Micrognathia, Hip dislocation, Bruxism, Fibula... OMIM:619297
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Low-set ears, Limb und... OMIM:225410
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... ORPHA:2639
Mend Syndrome
Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials,... ORPHA:401973
Achondrogenesis, Type Ib
Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia OMIM:600972
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Abnormal repetitive mannerisms, Hypothyroidism, Simple ear, Joint l... OMIM:619325
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Self-injurious behavior, Clinodactyly of the 5th finger, Prominent fingertip pads, ... OMIM:615637
Xq28 (MECP2) duplication
Failure to thrive, Macrotia, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... OMIM:613388
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... ORPHA:3121
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Alazami Syndrome
Abnormal eating behavior, Slender long bone, Low-set ears, Scoliosis, Abnormal repetitive manneri... ORPHA:319671
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Short palm, S... OMIM:249420
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked... ORPHA:99027
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... OMIM:620141
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypot... ORPHA:268261
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Hypoplasia of the thymus, Conductive hearing impairment, Chronic otitis... ORPHA:567
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Cryptorchidism, O... ORPHA:90321
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Head-banging, Short 4th t... OMIM:618569
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... ORPHA:502423
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Bon... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Failure to thrive, Rickets OMIM:211600
Hall-Riggs Syndrome
Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor... ORPHA:2107
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Primary amenorrhea, Hip dysplasia, Microtia, Limb undergrowt... ORPHA:319675
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repe... OMIM:618917
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Intellectual Developmental Disorder, Autosomal Dominant 34
2-3 toe syndactyly, Short foot, Bruxism, Abnormal repetitive mannerisms, Hearing impairment OMIM:616351
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Male infertility, Hallux valgus, Streak ovary, Unilateral cryp... ORPHA:1772
Microphthalmia, Syndromic 6
Uplifted earlobe, Adrenal hypoplasia, Micrognathia, Protruding ear, Clinodactyly of the 5th finge... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Thickened helices, Clinodactyly of the 5th finger, Conductive hearing impairment, Hypothyroidism,... OMIM:607872
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ... ORPHA:50945
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Optic nerve hypoplasia, Hyperlordosis, Abnormal T cell subset distribution, Protrudin... ORPHA:221139
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, EEG with parietal epileptiform discharges, Hip dislocation, Hypsarrhythmia, Continu... OMIM:619428
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Phelan-Mcdermid Syndrome
Sacral dimple, Aggressive behavior, Micrognathia, Tongue thrusting, 2-3 toe syndactyly, Protrudin... OMIM:606232
Pitt-Hopkins Syndrome
Prominent fingertip pads, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacra... OMIM:610954
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
22Q11.2 Duplication Syndrome
Micrognathia, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:1727
Dpm1-Cdg
Sandal gap, Micrognathia, Optic atrophy, Hepatosplenomegaly, Knee flexion contracture, Camptodact... ORPHA:79322
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Neutropenia, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Anemia OMIM:618067
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Sacral dimple, Aggressive behavior, Prominent crus of helix, Mic... OMIM:619695
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ... ORPHA:1798
Bilateral Polymicrogyria
Micrognathia, Sensorineural hearing impairment, Central hypothyroidism, Facial diplegia, Abnormal... ORPHA:268940
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Osteolysis, Acute lymphoblastic leukemia, Clinod... ORPHA:1052
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Micrognathia, Metatarsu... ORPHA:300570
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... ORPHA:550
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Fail... OMIM:613501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Snijders Blok-Campeau Syndrome
Joint laxity, Attention deficit hyperactivity disorder, Low-set ears, Scoliosis, Abnormal repetit... OMIM:618205
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Schimke Immuno-Osseous Dysplasia
Short stature, Abnormality of thyroid physiology, Disproportionate short-trunk short stature, Gro... ORPHA:1830
Gabriele-De Vries Syndrome
Hallux valgus, Posteriorly rotated ears, Small for gestational age, Craniosynostosis, Sandal gap,... ORPHA:506358
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Tapered finger, Precocious puberty, Abn... OMIM:301066
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Posteriorly rotated ears, ... ORPHA:171866
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Micromelia, Micrognathia, Meta... ORPHA:35107
H Syndrome
Hallux valgus, Histiocytosis, Diabetes mellitus, Recurrent fractures, Microcytic anemia, Delayed ... ORPHA:168569
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Low-set ears, Overlapping... OMIM:615966
7Q11.23 Microduplication Syndrome
Short neck, Micrognathia, Hemivertebrae, Abnormal optic disc morphology, Chronic otitis media, Ab... ORPHA:96121
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, 2-3 toe syndactyly, ... OMIM:618162
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... OMIM:619662
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight OMIM:614886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Sensorineur... OMIM:301040
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Tapered finger, Repetitive compulsive behavior, Optic atrophy, Protruding... ORPHA:401777
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Hypothyroidism ORPHA:93256
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism, Short stature OMIM:616843
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Abnormal vertebral mo... ORPHA:444077
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... OMIM:224400
Hallermann-Streiff Syndrome
Recurrent fractures, Micrognathia, Cryptorchidism, Small hand, Reduced bone mineral density, Shor... ORPHA:2108
Transketolase Deficiency
Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:488618
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Sensorineural hearing impairmen... ORPHA:79107
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormal repe... OMIM:194190
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog... ORPHA:93111
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Short neck, Humeroradial synostosis, M... OMIM:251230
Autism, Susceptibility To, 3
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:608049
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets, Failure to thrive ORPHA:2088
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax... OMIM:617866
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, Scoliosis, EEG with spike-wav... OMIM:619317
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Tapered finger, Attention deficit hyperactivity disorder, Scoliosis, Obsessi... OMIM:618825
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Sacral dimple, Posteriorly rotated ears, Abnormality of thyroid physiology, Postaxi... OMIM:300968
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Failure to thrive, Congenital hip dislocation, Posteriorly rotated ears, Hyperactivity, Micrognat... OMIM:619512
Kagami-Ogata Syndrome
Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Splenomegaly, Flexion contracture, Microt... OMIM:608149
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal o... OMIM:219090
Kleefstra Syndrome
Thickened helices, Aggressive behavior, Cryptorchidism, Self-mutilation, Limitation of joint mobi... ORPHA:261494
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Attention deficit hyperactivity d... OMIM:301029
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spl... OMIM:219800
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism ORPHA:30391
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Protruding ear, Abnormal repetitive mannerisms, Hyperactivity,... OMIM:309590
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent otitis media, Failure to thrive ORPHA:277
Down Syndrome
Joint laxity, Short palm, Sandal gap, Aganglionic megacolon, Short middle phalanx of the 5th fing... OMIM:190685
White-Kernohan Syndrome
Joint laxity, Obesity, Hip dysplasia, Low-set ears, Attention deficit hyperactivity disorder, Rec... OMIM:619426
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Optic disc pallor, Multiple joint contr... ORPHA:468631
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Rickets, Parathyroid hyperplasia, Elevated circulating parathyroid hormone l... OMIM:612089
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem... OMIM:214800
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Abnormal optic disc morph... ORPHA:508498
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Arachnodactyly, Micrognathia, Precocious p... OMIM:615485
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... ORPHA:275761
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... OMIM:620305
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Hyperactivity, Sacral dimple, Rhizomelia, Decreased response to g... ORPHA:319182
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Hyperthyroidism, Cachex... ORPHA:37042
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... ORPHA:209902
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Hyperactivity, Irregularity of vertebral bodies, Impulsivity, Aggressi... ORPHA:580
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Glutamine Deficiency, Congenital
Flexion contracture, Micromelia, Low-set ears, Camptodactyly OMIM:610015
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Hyperactivity, Multiple joint contractures, Small for gestation... ORPHA:464306
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Scoliosis, Hypothy... ORPHA:1556
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin... ORPHA:391487
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Optic neuropathy, Increased intervertebral space, Broa... OMIM:619727
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Rett Syndrome
EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin,... ORPHA:778
Hypertrichosis Cubiti
Joint hyperflexibility, Rhizomelia, Micromelia ORPHA:2220
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Extramedullary hematopoiesis, Rickets ORPHA:79303
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Short neck, Small hand, Short foot, Spina bifida occulta, ... ORPHA:488434
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, Osteopetrosis, ... OMIM:612301
Developmental And Epileptic Encephalopathy 64
Micrognathia, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive mannerisms OMIM:618004
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ... ORPHA:2021
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Contracture of the proximal i... OMIM:300166
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial b... ORPHA:96334
Williams Syndrome
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmen... ORPHA:904
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... ORPHA:1652
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micromelia, Short neck, Micrognathia, Otitis media, Clinodactyly of ... OMIM:122470
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Compulsive beh... OMIM:615873
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Optic disc pallor, Abnormality of the endocrine system, Cryptorchidism,... ORPHA:438213
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... ORPHA:90796
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Cryptorchidism, Ky... OMIM:309000
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Hyperhidrosis, Dysphagia, Abnormal repetitive mann... ORPHA:79264
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Rickets OMIM:607765
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Han... OMIM:619580
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Abnormal repetitive mannerisms, Joint hypermobility, Overfriendliness OMIM:616579
White-Sutton Syndrome
Joint laxity, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Short neck, Abnormal ... ORPHA:468678
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... ORPHA:293978
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Anemia OMIM:611489
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Slender build, Attention deficit hyperactivity disorder, Scoliosis... OMIM:617600
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Hyperthyroidism, Short mandibular rami, Micrognat... OMIM:170390
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Short neck, Abnormal circulating calcium-phosph... ORPHA:50810
Abetalipoproteinemia
Osteopenia, Reticulocytosis, Kyphoscoliosis, Acanthocytosis, Talipes equinovarus, Failure to thri... ORPHA:14
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Abnormal calc... OMIM:271665
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Aggressive behavior, Kyphosi... ORPHA:476126
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Cryptorchidism, 2-3... OMIM:107480
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, Facial diplegia, Attention ... OMIM:619121
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea... ORPHA:87
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Sho... OMIM:224410
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Abnormality of the cervical spine, Small for ge... ORPHA:464311
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... OMIM:300352
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Aggressive behavior, Wide anterior fontanel, Low-set ears, Contractur... ORPHA:457279
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormal thalamic MRI sign... ORPHA:485421
Cowden Syndrome
Short stature, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... ORPHA:201
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Micrognathia, Fractures of the long bones, Optic atrophy, Scoliosis, ... ORPHA:496641
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy... OMIM:619503
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Decreased proportion... OMIM:618048
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Asymmetry of the ears, EEG with burst suppression, Flexion contracture, Hypsar... OMIM:619124
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, ... ORPHA:699
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Decreased nerve conduction velocity, Thromboc... OMIM:277900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Hypercholester... OMIM:248370
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... OMIM:608328
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Sotos Syndrome
Flexion contracture, Conductive hearing impairment, Chronic otitis media, Hypothyroidism, Abnorma... ORPHA:821
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Anorexia, Splenomegaly, Weigh... OMIM:619381
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retroversion, Bowing of... OMIM:610682
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears... OMIM:619575
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate... ORPHA:97360
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the dista... ORPHA:83617
Robinow Syndrome, Autosomal Recessive 2
Posteriorly rotated ears, Broad hallux, Sandal gap, Micrognathia, Mesomelia, Low-set ears, Campto... OMIM:618529
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia OMIM:619471
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth ORPHA:1861
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... ORPHA:457351
Mosaic Trisomy 9
Camptodactyly of finger, Rocker bottom foot, Micromelia, Asplenia, Cryptorchidism, Short neck, Li... ORPHA:99776
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... ORPHA:2879
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... ORPHA:93325
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... ORPHA:177907
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... OMIM:607594
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Leprechaunism
Enlarged ovaries, Postnatal growth retardation, Hyperinsulinemia, Central hypothyroidism, Hyperal... ORPHA:508
46,Xy Partial Gonadal Dysgenesis
Male infertility, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hyp... ORPHA:251510
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Genitopatellar Syndrome
Hip contracture, Brachydactyly, Congenital hip dislocation, Micrognathia, Cryptorchidism, Hypothy... OMIM:606170
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... OMIM:231550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Rickets, Large for gestational age OMIM:616026
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, Repetiti... ORPHA:522077
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Hallux valgus, Diabetes mellitus, Failure to thrive in infancy, Down-sl... OMIM:194050
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... OMIM:300972
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Immunodeficiency 13
Lymphopenia, Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, B lymphocyto... OMIM:615518
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Brachydactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Mes... OMIM:616894
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Increased suscept... ORPHA:404454
Aspartylglucosaminuria
Macroorchidism, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Microtia, ... ORPHA:93
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Self-mutilat... OMIM:270400
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... ORPHA:168491
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Brachydactyly, Thrombocytopenia, Reticulocytopenia, Leukopenia, ... ORPHA:508542
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Low-set ears OMIM:614069
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... OMIM:241800
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Protruding ear, Abnormal antihelix morphology, Scoliosis, Abnormal repetitive mannerisms ORPHA:261144
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus, Short stature, Intrauterine growth retardation ORPHA:84064
Infantile Nephropathic Cystinosis
Growth delay, Abnormality of thyroid physiology ORPHA:411629
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Digeorge Syndrome
Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognat... OMIM:188400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Micrognathia, Cryptorchidism, Kyphosis, Increased femoral ant... OMIM:619005
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short... OMIM:263650
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Attention deficit hyperactivity... OMIM:620242
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequent te... OMIM:619103
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Abnormal pinna morphology, Posteriorly rotated ears, Bowing of the legs, Sh... OMIM:269860
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Protruding ear, Abnormal curvature of the vertebral column, Tics, Otitis media, Compul... OMIM:619475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Cornelia De Lange Syndrome
Proximal placement of thumb, Micromelia, Short neck, Micrognathia, Compulsive behaviors, Clinodac... ORPHA:199
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... ORPHA:85450
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Protruding ear, EEG abnormality, Talipes equinovarus, Scoliosis, Brux... OMIM:613454
Acrocardiofacial Syndrome
Cryptorchidism, Hyperthyroidism, Intrauterine growth retardation ORPHA:2008
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Hyperactivity, Microgna... OMIM:251260
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... ORPHA:529799
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Anemia, Hepatosplenomegaly OMIM:273680
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... ORPHA:1507
Van Esch-O'Driscoll Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Impulsivity, Protruding ear, Microtia, Short middle... OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short neck, Macrotia, Prominent antihelix, Inappropriate laughter, Failure to thrive, Abnormal re... OMIM:615802
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism,... OMIM:613457
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Conductive hearin... ORPHA:353281
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Absent circulating B cells, Delayed pubert... OMIM:307200
Kabuki Syndrome 1
Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Posteriorly rotated ears,... OMIM:147920
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... OMIM:612651
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Doors Syndrome
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Triphalangeal thumb, Clinodactyly... ORPHA:79500
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Brachydactyly ORPHA:1318
Townes-Brocks Syndrome
Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral morphology, Hypothyroidis... ORPHA:857
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality ORPHA:206448
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... ORPHA:309031
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Microg... ORPHA:2756
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Small for gestational age, Overlapping toe, Microcytic anemia, Leukocytosis, Microt... ORPHA:99843
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Aplasia/Hypoplas... ORPHA:2753
Juvenile Nephropathic Cystinosis
Growth delay, Hypothyroidism ORPHA:411634
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia, Otitis media ORPHA:70593
Arboleda-Tham Syndrome
Anteverted ears, Bilateral cryptorchidism, Chronic otitis media, Small earlobe, Prominent antitra... OMIM:616268
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ... OMIM:613658
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Micrognathia, Metatarsus adductus, Repetitive compulsive behavior, Osteopathia striata, Abnormal ... ORPHA:513456
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Abnormal repetitive mannerisms, Agitation ORPHA:927
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Hydrolethalus
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... ORPHA:2189
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Aicardi-Goutières Syndrome
Multiple joint contractures, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lym... ORPHA:51
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... ORPHA:90794
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Micromelia, Short ne... ORPHA:508488
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... OMIM:268305
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, ... OMIM:200995
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Hip dislocation, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Cryptorchidism, Obesity, 2-3 toe syndactyly, Low-set ears, Scoli... OMIM:618653
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Con... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Con... ORPHA:353277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... OMIM:618986
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Hypothyroidism OMIM:615846
Autosomal Dominant Robinow Syndrome
Micromelia, Short neck, Micrognathia, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo... ORPHA:3107
Sarcoidosis
Hemolytic anemia, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Facial palsy, Thr... ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlargement of parotid gland, Nodular goiter, ... ORPHA:79078
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Hyposegmentation of neutrophil nucl... OMIM:614800
Fanconi-Bickel Syndrome
Failure to thrive, Rickets, Osteomalacia OMIM:227810
Aminopterin/Methotrexate Embryofetopathy
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia... ORPHA:1908
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Precocious puberty, Cryptorchidism, Reduced bone mineral density, Scoliosis, Cli... OMIM:616682
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Viss Syndrome
Micrognathia, Generalized joint laxity, Hypothyroidism, Joint laxity, Long toe, Microretrognathia... OMIM:619472
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... ORPHA:1784
Developmental And Epileptic Encephalopathy 2
Tapered finger, Small hand, Hypsarrhythmia, Short foot, Scoliosis, Abnormal repetitive mannerisms... OMIM:300672
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... OMIM:614091
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Abnormality of the ear, Hypopl... ORPHA:3455
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Low... ORPHA:818
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Neutropenia, Recurrent otitis media, Septic arthritis, Pros... OMIM:300755
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies, Slender long... OMIM:612731
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Sensorineural hearing impairment, Failure to thrive, Absent circulating B cells OMIM:619693
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism, Osteomalacia OMIM:600740
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor ORPHA:363618
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... OMIM:400044
Beckwith-Wiedemann Syndrome
Otosclerosis, Adrenocortical cytomegaly, Large for gestational age, Splenomegaly, Cryptorchidism,... ORPHA:116
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Broad hallux, 1-2 toe syndactyly, Tapered finger, Small hand, Overfolde... OMIM:301044
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Sensorineural hearing impairment,... ORPHA:649
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... ORPHA:2255
Becker Nevus Syndrome
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta ORPHA:64755
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short neck, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Prominent fingertip pad... OMIM:612474
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Otitis m... OMIM:602450
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Congenital Varicella Syndrome
Micromelia ORPHA:291
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce... OMIM:241600
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... ORPHA:51608
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Multiple joint contractures, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set... ORPHA:447997
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Abnormal fingertip morphology ORPHA:529965
Developmental And Epileptic Encephalopathy 100
Micrognathia, Bilateral camptodactyly, Elbow flexion contracture, EEG with photoparoxysmal respon... OMIM:619777
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Optic disc coloboma, Trapezoidal vertebral body, Short phalanx of f... OMIM:600092
African Trypanosomiasis
Papilledema, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomegal... ORPHA:3385
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, ... OMIM:613610
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Short n... ORPHA:709
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Abnormal pinna morphology, Maternal diabetes, Short neck, Microg... ORPHA:3404
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... OMIM:617809
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, Protruding ear, Iron def... OMIM:300855
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Type II diabetes mellitus OMIM:604121
Ellis Van Creveld Syndrome
Micromelia, Cryptorchidism, Capitate-hamate fusion, Acute leukemia, Genu valgum, Abnormal pelvic ... ORPHA:289
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Posteriorly rotated ears, Sandal gap, Optic nerve hypoplasia, Aggressi... OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Posteriorly rotated ears, Tapered finger, Cryptorchidism, Short thumb, Dysphagia, Hydr... OMIM:619522
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Micrognathia, Cryp... OMIM:256520
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Talipes equinovarus, Low-set ears, Br... OMIM:616393
Pilarowski-Bjornsson Syndrome
Prominent fingertip pads, Abnormal repetitive mannerisms OMIM:617682
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... ORPHA:98784
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Microcytic anemia ORPHA:90308
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Micrognathia, 2-3 toe cu... OMIM:614756
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:881
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Small for gestational age, Splenomegaly, Sensorineural hearing i... OMIM:243800
Ring Chromosome 13 Syndrome
Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Papillary thyroid carcinoma OMIM:118450
C Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Failure to thrive in infancy, M... ORPHA:1308
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Vertigo, Osteoarthritis,... ORPHA:285
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Tapered finger, Cryptorchidism, Overfolded helix, Low-set ears, Dysphag... OMIM:617330
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... OMIM:616084
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Schisis Association
Small for gestational age, Micromelia ORPHA:63862
Mowat-Wilson Syndrome
Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Conductive hearing imp... ORPHA:2152
Niemann-Pick Disease Type C
Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Disinh... ORPHA:646
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Abnormal repetitive ma... ORPHA:261537
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia, Short neck, Multifocal epileptiform discharges, Large earlobe, ... ORPHA:1675
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ... ORPHA:125
Dyschondrosteosis-Nephritis Syndrome
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia ORPHA:1765
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib... OMIM:616546
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Sensorineural hearing impairment, Optic atrophy ORPHA:314404
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Abnormal repetitive mann... OMIM:607625
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Abnormal repetitive ma... ORPHA:261552
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus, Obesity OMIM:614250
Radio-Renal Syndrome
Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal form of the vertebral bo... ORPHA:3015
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cryptorchidism, Abnormal pelvis bone ossification, Preaxial hand polyda... ORPHA:93271
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc... OMIM:619534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia ORPHA:405
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia, Recurrent otitis media, Failure to thrive OMIM:601495
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Nmda Receptor Encephalitis
Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, EEG wit... ORPHA:217253
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle ORPHA:37202
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Malakoplakia
Orchitis, Abnormality of the menstrual cycle ORPHA:556
Cystic Fibrosis
Male infertility, Hepatosplenomegaly, Steatorrhea OMIM:219700
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tshr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tshr.

No publications found that use IMPC mice or data for Tshr.

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