Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
discoidin domain receptor family, member 2
Synonyms:
Ntrkr3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ddr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ddr2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ddr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Nondisjunction
Decreased fertility OMIM:158250
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Deeply set eye, Decreased... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Eunuchoid habitus, Increased circulating gonadotropin lev... ORPHA:261534
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:179494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gona... OMIM:614841
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Micrognathia, Sandal gap, Delayed puberty, Failure to thrive, Microce... ORPHA:217340
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Hypertelorism, Recurren... ORPHA:99330
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Anosmia, Small pituitary gland, Primary amenorrhea, Hyposmia, Hypogonadotropic hy... OMIM:612702
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Osteoporosis, Aplasia of the ovary, Hypergonadotropic hypogonadi... ORPHA:2232
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficien... OMIM:618841
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Decreased serum testosterone concentration, Hyperintensity of cerebral... ORPHA:101006
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gonadotropin co... ORPHA:739
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Osteoporosis, Decreased female libido, Osteopenia, Pit... ORPHA:91348
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Short stature, Failure to thrive, Decreased testicula... OMIM:201100
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Hypertelorism, Short nose, Mild s... OMIM:305400
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Cleft ala nasi, Deeply set eye, Breast aplasia, N... ORPHA:3044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Lack of facial subcutaneous fat, Hypergonadotropic hypogonadi... ORPHA:2959
Non-Acquired Panhypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Delayed puberty, Decreased testicular si... ORPHA:90695
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98754
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98793
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Bulbous nose, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Prop... OMIM:618492
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177904
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177901
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Short long bone, Coxa vara, Genu varum, Rou... OMIM:611702
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Weight loss, Testicu... ORPHA:465508
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Underdeveloped nasal alae, Decreased body weight, Wide nasal... OMIM:272440
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Hypogonadism, Azoospermia, Primary amenorrhea OMIM:229070
Osteomesopyknosis
Infertility OMIM:166450
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hyperprolactinemia
Infertility, Menorrhagia, Oligomenorrhea OMIM:615555
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Tetralogy Of Fallot
Intrauterine growth retardation, Cryptorchidism, Abnormal nasal morphology, Proptosis ORPHA:3303
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Anterior pituitary hypoplasia... OMIM:618157
Combined Oxidative Phosphorylation Deficiency 25
Hypertelorism, Short nose, Cerebral atrophy, Wide nasal bridge, Depressed nasal bridge, Short sta... OMIM:616430
Hypochondroplasia
Childhood onset short-limb short stature, Short long bone, Flared metaphysis, Genu varum, Macroce... OMIM:146000
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Diabetes Insipidus, Neurohypophyseal
Hypertelorism, Short nose, Osteopenia, Central diabetes insipidus, Wide nose OMIM:125700
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Reduced subcutaneous adipose tissue, Lipoatrophy, ... ORPHA:280356
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Arthrogryposis multiplex congenita, Hypertelorism, Joint contracture of the 5th f... ORPHA:352490
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Proptosis, Small cerebral cortex, Cortical dysplasia, Short st... OMIM:608716
Mental Retardation, X-Linked 91
Short nose, Clinodactyly, Small hand, Short foot, Short 5th finger, Obesity OMIM:300577
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Delayed puberty, Decreased testicular si... ORPHA:95494
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Obesity, Neoplasm of the posterior pituitary,... ORPHA:2495
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Micropenis, Hypopla... OMIM:241080
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose, Short stature ORPHA:2015
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Depressed nasal ridge, Intrauterine growth retardation, Microceph... ORPHA:1832
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Long penis, Hyperinsulinemia, Postprandial hyperglycemia, Adi... OMIM:246200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Convex nasal ridge, Cryptorchidism, Insulin resistance, Flexion contracture, Lipody... OMIM:615381
Stuve-Wiedemann Syndrome
Short phalanx of finger, Pulmonary arterial hypertension, Micrognathia, Femoral bowing, Elbow fle... OMIM:601559
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Growth delay, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depresse... OMIM:614069
Familial Hyperprolactinemia
Osteoporosis, Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonad... ORPHA:397685
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Culler-Jones Syndrome
Cryptorchidism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Hypopituitarism, Shor... OMIM:615849
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Lipodystrophy, Primary amenorrhea, Polycysti... OMIM:604367
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Growth delay, Pitu... ORPHA:95619
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Proptosis, Short stature, Simplified gyral pattern, Intrauterine growth retarda... OMIM:616171
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Mesomelia, Abnormal shoulder morphology, Micrognathia, Brachyda... ORPHA:1277
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Shashi-Pena Syndrome
Osteoporosis, Hypertelorism, Proptosis, Hypoglycemia, Broad nasal tip OMIM:617190
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Aromatase Deficiency
Osteoporosis, Cryptorchidism, Eunuchoid habitus, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:91
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Growth delay, Proptosis, Wide nasal bridge, Simplified gyral pattern, ... ORPHA:411493
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Short nose, Failure to thrive, Microcephaly, Narrow nasal bridge OMIM:618379
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Broad nasal tip, Macrocephaly, Retrognathia, Obesity OMIM:613670
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Short stature, Microcephaly, Hypogonadism, Short nasal... OMIM:302950
Ovarian Fibrothecoma
Abnormality of the ovary, Pleural effusion, Abnormality of the endometrium, Metrorrhagia, Gonadal... ORPHA:314478
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Proptosis, Reduced bone mineral density, Short stature, Intrauterine growth retardation ORPHA:2370
Fg Syndrome Type 1
Slender build, Cryptorchidism, Progressive flexion contractures, Craniosynostosis, Hypertelorism,... ORPHA:93932
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Goiter, Proptosis, Impaired sensitivity to thyroid hormone, Small for gesta... OMIM:274300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal ins... ORPHA:293978
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Intrau... ORPHA:99886
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypertelorism, Short nose, Unilambdoid synostosis, Hypoplasia of the corpus callo... OMIM:618577
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Postnatal growth retardation, Intrauterine growth retardation, Metaphyseal dysplasia,... OMIM:614732
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Hip dislocation, Short tibia, Fibular ap... OMIM:605274
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Pulmonary fibrosis, Streak ovary, Primary amenorrhea, A... ORPHA:243
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Short stature, Microcephaly, Micrognathia, Depressed nasal bridge ORPHA:1695
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Abnormal heart mor... ORPHA:356961
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Proptosis, Simplified gyral pattern OMIM:604804
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the ankles, Abnormality of epiphysis morphol... ORPHA:166002
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Short nose, Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Abnorma... OMIM:615803
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Failure to thrive, Broad nasal tip, Microcephaly, Arachnodactyly, P... OMIM:615485
Acromicric Dysplasia
Abnormality of femur morphology, Short nose, Bulbous nose, Abnormality of epiphysis morphology, S... ORPHA:969
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Microcephaly OMIM:618160
Renal Hypodysplasia/Aplasia 1
Hypertelorism, Primary amenorrhea, Bicornuate uterus, Vaginal atresia, Pulmonary hypoplasia OMIM:191830
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Wide nasal bridge, Fibular hypoplasia, Clinod... OMIM:201170
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Proptosis, Short stature, Microcephaly, Overhanging nasal tip, Narrow nasal b... ORPHA:85172
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Truncal obesity, Ulnar deviation of finger, Abnormality of p... ORPHA:2928
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Micrognathia, 2-3 toe syndactyly, Clinodactyly, Microcephaly, Brachydactyly, Tapered ... OMIM:617061
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Growth delay, Short stature, Recurrent pneumonia, Intrauteri... ORPHA:1495
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Donnai-Barrow Syndrome
Abnormality of the uterus, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Short nose, ... ORPHA:2143
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Perlman Syndrome
Cryptorchidism, Short nose, Hyperinsulinemia, Femoral hernia, Deeply set eye, Wide nasal bridge, ... ORPHA:2849
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Short stature, Anteri... OMIM:221750
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Short stature, Depressed nasal ridge, Hypospadias, Anteverted nares ORPHA:1355
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Bulbous nose, Postnatal growth retardation, Decreased body weight, Short stature, Broa... OMIM:612947
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Agenesis of corpus callosum, Abnormality of the hypothalamus-p... ORPHA:3157
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Flexion contracture, Decreased body weight, Proptosis, Depressed nasal bridge, Failure to thrive,... OMIM:618346
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Growth delay, Short stature, Progressive microcephaly, Depressed nasal bridge ORPHA:438178
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... OMIM:155050
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Hypertelorism, Oligospermi... ORPHA:8
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short nose, Short foot, Wide nasal bridge, Short metacarpal, Short stature, Short to... OMIM:614078
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant... OMIM:262190
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia, Ankle flexion c... OMIM:619040
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Hypertelorism, Short nose, Micropenis, Umbilical hernia, Proptosis, Short stature... OMIM:616331
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Rhizomelia, Mandibular prognathia, Short humerus... ORPHA:2831
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Arrhythmia, Hand polydactyly, Hemiatrophy, Short 5th metacarpal, Aplasia/Hy... ORPHA:1350
Adenylosuccinate Lyase Deficiency
Microcephaly, Anteverted nares, Short nose ORPHA:46
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypertelorism, Broad nasal tip, Midline central nervous system lipomas, Thick nas... ORPHA:1827
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal p... OMIM:608612
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Proptosis, Basal ganglia calcification, Microcephaly, Prominent nasal bridge OMIM:608432
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, EMG: myopathic abnormalities, A... ORPHA:488650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Narrow nasal ridge, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal p... OMIM:248370
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Obesity, Unde... ORPHA:177907
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Arrhythmia, Azoospermia, Dilated cardi... OMIM:602390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Craniosynostosis, Hypertelorism, Short nose... ORPHA:171839
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short nose, Mild short stature, Short phalanx of finger, Mandibular prognathia,... OMIM:614613
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Square pelvis bone, Bowing of the long bones, Cone-shaped ... ORPHA:166272
Cherubism
Bone cyst, Proptosis ORPHA:184
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Craniosynostosis, Bulbous nose, Choan... ORPHA:95699
Hypogonadism-Cataract Syndrome
Infertility, Hypogonadism, Male hypogonadism OMIM:240950
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... OMIM:251450
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Microcephaly, Patent d... OMIM:206900
Spastic Paraplegia 26, Autosomal Recessive
Cerebral cortical atrophy, Decreased serum testosterone concentration OMIM:609195
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
Meckel Syndrome 12
Arthrogryposis multiplex congenita, Wide nasal bridge, Vaginal atresia, Intrauterine growth retar... OMIM:616258
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary ORPHA:1875
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic ilia... OMIM:300863
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Congenital hip dislocation, Recurrent upper respiratory tract infections, Short finge... OMIM:300209
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Short stature, Diabetes insipidus, Agene... OMIM:182230
Acromicric Dysplasia
Short phalanx of finger, Bulbous nose, Cone-shaped epiphysis, Severe short stature, Short foot, F... OMIM:102370
Pontocerebellar Hypoplasia, Type 3
Hypoplasia of the corpus callosum, Cerebral atrophy, Decreased body weight, Proptosis, Short stat... OMIM:608027
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Abnormal thumb morphology, Talipes, Abnormality of epiphysis morphology, Rh... ORPHA:1842
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Pierpont Syndrome
Short toe, Short nose, Short finger, Short palm, Decreased body weight, Short foot, Short stature... OMIM:602342
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Macrocephaly, Truncal obesity, Mandibular prognathia, Short nose ORPHA:2429
Robinow Syndrome
Cryptorchidism, Hypertelorism, Short nose, Webbed penis, Micropenis, Scrotal hypoplasia, External... ORPHA:97360
17P13.3 Microduplication Syndrome
Hypertelorism, Short nose, Hypoplasia of the corpus callosum, Inguinal hernia, Hypoplasia of peni... ORPHA:217385
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Wide nasal brid... ORPHA:1240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Polydactyly, Hypoplastic ischia, Intrauterine growth retardation, Microcephaly, Depre... OMIM:616910
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Hypoplasia of the corpus callosum, Microcephaly, Proptosis OMIM:601420
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Osteolysis, Short stature, Broad nasal tip ORPHA:2776
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea OMIM:146110
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Proptosis, Osteopeni... OMIM:601812
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Clitoral hypertrophy, Severe postnatal growth retardation, Precocious... ORPHA:769
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Short nose, Micrognathia, Camptodactyly, Wide nasal bridge, Clinodactyly, Relative m... OMIM:618529
Achondrogenesis Type 1B
Disproportionate short stature, Short nose, Severe short stature, Aplasia/Hypoplasia of the lungs... ORPHA:93298
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Choanal stenosis, Fused labia minora, Camptodactyly, Flexion contrac... OMIM:207410
Isolated Cloverleaf Skull Syndrome
Convex nasal ridge, Craniosynostosis, Proptosis ORPHA:2343
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98855
Axial Spondylometaphyseal Dysplasia
Hypertelorism, Short nose, Rhizomelia, Proptosis, Short stature, Anteverted nares ORPHA:168549
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Short nose, Patent ductus arteriosus, Proptosis, Coarse metaphyseal trabecularizat... OMIM:618961
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia, Intrauterine growt... OMIM:601410
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Shor... ORPHA:950
Perrault Syndrome 4
Osteoporosis, Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus,... OMIM:615300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Disproportionate short stature, Amelogenesis imperfecta, Microretrogn... OMIM:618363
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge, Macrocephaly, Microcephaly, Obesity OMIM:611936
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Short stature, Prominent nasal bridge ORPHA:1200
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Panhypopituitarism, Adrenocorticotropin deficient adrenal insu... ORPHA:91350
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Delayed puberty, Micrognathia, Short nose ORPHA:2598
Gillessen-Kaesbach-Nishimura Syndrome
Convex nasal ridge, Hypertelorism, Underdeveloped nasal alae, Flexion contracture, Omphalocele, P... OMIM:263210
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Type II diabetes mellitus, Insulin resista... ORPHA:2298
Pituitary Hormone Deficiency, Combined, 1
Short nose, Hypothyroidism, Deeply set eye, Short stature, Anteverted nares, Severe postnatal gro... OMIM:613038
H Syndrome
Osteolysis, Azoospermia, Bronchiectasis, Amenorrhea, Decreased testicular size, Camptodactyly, Li... ORPHA:168569
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Metaphyseal dysplasia, Short long b... OMIM:250460
Isolated Brachycephaly
Hypertelorism, Proptosis ORPHA:35099
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Short nose, Metaphyseal cupping, Hypertension, Short ribs, Hypoplastic ischi... OMIM:613320
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Postnatal growth retardation, Clinodactyly, Relative macrocephaly, Small hand, Short ... ORPHA:254525
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Short stature, Macrocephaly, Depressed nasal bridge ORPHA:2835
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Relative macrocephaly, Smal... ORPHA:231144
Achondrogenesis Type 1A
Short nose, Severe short stature, Aplasia/Hypoplasia of the lungs, Short foot, Macrocephaly, Micr... ORPHA:93299
Chromosome 16P13.3 Duplication Syndrome
Short nose, Short phalanx of finger, Bulbous nose, Camptodactyly, Short toe, Hip dislocation, Tap... OMIM:613458
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphyses, Cone-shaped ep... OMIM:184260
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Hypoplasia of teeth, Proportionate short stature, Down-sloping shoulders, Decreased b... ORPHA:391408
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Metaphyseal irregularity, Pes planus, Coxa vara, Tetralogy of Fallot, Hypoplasia of ... ORPHA:93315
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognathia, Abnormality of the... ORPHA:1248
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Short nose, Microretrognathia, Cachexia, Short stature, Recurrent res... ORPHA:1389
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Convex nasal ridge, Osteolytic defects of the distal phalanges of the hand, Osteoly... OMIM:614008
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Re... OMIM:618618
Peho-Like Syndrome
Retrognathia, Progressive microcephaly, Short nose OMIM:617507
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Short nose, Ventricular septal defect, Flexion contracture, Limb undergrowth, Decrea... OMIM:616897
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Toe syndactyly, Short nose, Mandibular prognathia, Short distal phalanx ... ORPHA:1327
Microcephaly-Capillary Malformation Syndrome
Short nose, Short distal phalanx of finger, Clinodactyly, Small for gestational age, Short statur... OMIM:614261
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Spina bifida occulta, Short stature, Micrognathia, Narrow nasal br... ORPHA:1514
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98853
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Proptosis, Wide nasal bridge, Depressed nasal bridge, Congenital diaphragmatic hern... OMIM:301022
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Inguinal hernia, Intrauterine growth retardatio... ORPHA:96181
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Inc... OMIM:608600
Rhiny
Anteverted nares, Short nose OMIM:180360
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wide anterior fontanel, Micrognathia, Growth delay, Postnatal growth retardation, ... OMIM:614541
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Hypoplasia of the ulna, Severe short stature... ORPHA:2557
Tetralogy Of Fallot
Proptosis OMIM:187500
Achondrogenesis
Short nose, Severe short stature, Aplasia/Hypoplasia of the lungs, Macrocephaly, Micrognathia, An... ORPHA:932
Kleeblattschaedel
Craniosynostosis, Proptosis OMIM:148800
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Intellectual Developmental Disorder, X-Linked 98
Short nose, Underdeveloped nasal alae, Growth delay, Secondary microcephaly, Failure to thrive, M... OMIM:300912
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Short nose, Fused fourth and fifth metacarpals, Growt... OMIM:206920
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Abnormality of epiphysis morphology, Hypoplastic pu... ORPHA:2746
Teebi Hypertelorism Syndrome
Craniosynostosis, Hypertelorism, Short nose, Omphalocele, Wide nasal bridge, Bicornuate uterus, S... OMIM:145420
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98863
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Increas... ORPHA:435660
Lowry-Maclean Syndrome
Osteoporosis, Convex nasal ridge, Craniosynostosis, Short nose, Aplasia/Hypoplasia of the corpus ... ORPHA:2409
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Growth delay, Camptodactyly, Clinodactyly, Short stature, Intrauterine ... OMIM:613604
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Hypertension, Myocardial infarction, Congestive heart fai... OMIM:615703
Short Stature-Obesity Syndrome
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia OMIM:269870
Omodysplasia 1
Hypoplastic distal humeri, Atrial septal defect, Short nose, Ventricular septal defect, Limited k... OMIM:258315
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Short nose, Toe clinodactyly, Micrognathia, Depressed nasal bridge ORPHA:261120
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Deviation of finger ORPHA:1450
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypertelorism, Postnatal ... ORPHA:1655
Hypophosphatasia, Childhood
Craniosynostosis, Short stature, Proptosis OMIM:241510
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Failure to thrive, Macrocephaly, Broad columella, Progressive microcephaly, Depressed... OMIM:617865
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Short nose, Underdeveloped nasal alae, Overlapping toe, Micrognathia, Growth delay... OMIM:613026
Isolated Exencephaly
Maternal diabetes, Posterior pituitary agenesis, Anterior pituitary hypoplasia, Proptosis, Agenes... ORPHA:563612
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Flexion contracture, Proptosis, Failure to thrive, Osteopenia ORPHA:157965
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Pulmonary hypoplasia, Macrocephaly, Hip dislocation, Micr... OMIM:241800
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Overweight, Recurrent upper respiratory tract infections, ... ORPHA:391372
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Saul-Wilson Syndrome
Convex nasal ridge, Short metatarsal, Wide anterior fontanel, Postnatal growth retardation, Short... OMIM:618150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Mental Retardation, Autosomal Dominant 20
Hypertelorism, Short nose, Abnormal periventricular white matter morphology, Abnormal cerebral wh... OMIM:613443
Chops Syndrome
Cryptorchidism, Hypertelorism, Short nose, Patent ductus arteriosus, Proptosis, Laryngomalacia, A... OMIM:616368
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypertelorism, Hypoplasia of the corpus callosum, Umbilical hernia, Proptosis, Inguinal hernia, B... OMIM:618354
Acrocephalopolydactyly
Short long bone, Brachydactyly, Short nose, Depressed nasal ridge ORPHA:221054
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Proptosis, Carpal osteolysis, Osteolysis involving ... OMIM:166300
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Short finger, S... OMIM:250215
Deeah Syndrome
Cryptorchidism, Panhypopituitarism, Short nose, Neonatal hypoglycemia, Decreased circulating free... OMIM:619004
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Microcephaly, Massively thickened long bone cortices, Short stature, Proptosis OMIM:122900
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Developmental And Epileptic Encephalopathy 75
Hypertelorism, Short nose, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Proptosis... OMIM:618437
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Absent Achilles reflex, Intrinsic hand muscle atrophy, Peroneal muscle a... ORPHA:324442
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Progressive microcephaly, Short nose, Depressed nasal bridge OMIM:617802
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Hypertelorism, Short nose, Choanal atresia, Proptosis, Intrauterine growth ... ORPHA:1914
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Chung-Jansen Syndrome
Cryptorchidism, Hypertelorism, Short nose, Anteverted nares, Obesity OMIM:617991
Achondroplasia
Short proximal phalanx of finger, Disproportionate short stature, Wide anterior fontanel, Trident... ORPHA:15
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Verheij Syndrome
Short nose, Growth delay, Wide nasal bridge, Clinodactyly, Short stature, Microcephaly, Hip dislo... OMIM:615583
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Lipodys... ORPHA:79085
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Postnatal growth retardation, Microcephaly, Micrognathia OMIM:615419
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Deeply set eye, Scrotal hypoplasia, Reduced bone mineral density, Hypoplasia of penis... ORPHA:2983
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Hypertelorism, Bulbous nose, Proptosis, Wide nasal bridge, Small for gestationa... OMIM:613174
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Congenital hip dislocat... ORPHA:1458
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Interphalangeal j... ORPHA:96334
Bangstad Syndrome
Convex nasal ridge, Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morph... ORPHA:1227
Fibrochondrogenesis 2
Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ischia, Me... OMIM:614524
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
19P13.12 Microdeletion Syndrome
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Hypertelorism, Hypothyroidi... ORPHA:254346
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... ORPHA:93308
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Craniosynostosis, Hypertelorism, Camptodactyly of toe, Umbilical hernia, Wide nas... OMIM:175700
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Short nose, Congenital hip dislocation, Recurrent upper respiratory tract inf... ORPHA:3078
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Disproportionate short-t... OMIM:271530
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Short nose, Hypoplasia of the corpus callosum, Rhizomelia, Cerebral atrophy, Prop... OMIM:602613
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Proptosis, Wide nasal bridge, Carpal ... ORPHA:2774
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Convex nasal ridge, Short nose OMIM:200130
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Cerebral calcification, Osteoporosis, Pachygyria, Rickets, Fl... ORPHA:2671
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormality of the larynx, Vaginal atresia, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:3301
Caffey Disease
Cellulitis, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphys... ORPHA:1310
Donnai-Barrow Syndrome
Hypertelorism, Short nose, Aplasia/Hypoplasia of the corpus callosum, Omphalocele, Umbilical hern... OMIM:222448
Chitayat Syndrome
Hypertelorism, Short columella, Tracheomalacia, Proptosis, Abnormal pulmonary interstitial morpho... OMIM:617180
Laron Syndrome
Short long bone, Limb undergrowth, Delayed menarche OMIM:262500
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Insulin resistance, Bone cyst, Adipose tissue loss,... ORPHA:528
Al-Raqad Syndrome
Microcephaly, Brachydactyly, Short nose, Sandal gap OMIM:616459
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Sandal gap, Short distal phalanx of finger, Short hallu... OMIM:311300
Gms Syndrome
Short nose, Proportionate short stature, Small hand, Microcephaly, Short palm, Depressed nasal br... OMIM:138770
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Weight loss, Proptosis OMIM:275000
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Postnat... ORPHA:2177
Chromosome 6Q11-Q14 Deletion Syndrome
Hypertelorism, Short nose, Umbilical hernia, Inguinal hernia, Short stature, Broad nasal tip, Hyp... OMIM:613544
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Craniosynostosis, Choanal stenosis, Chordee, Camptodactyly, Scrotal hypoplasia, C... OMIM:201750
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Agenesis of corpus callosum, Underdeveloped nasal alae, Hyper... ORPHA:264200
Acrofrontofacionasal Dysostosis 2
Hypertelorism, Bifid scrotum, Shawl scrotum, Proptosis, Short stature, Hypospadias, Microcephaly,... OMIM:239710
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Atrial septal defect, Preaxial hand... OMIM:263520
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Breast hypoplasia, Micropenis, Hypoplasia of the corpus callosum, Narrow nasal ti... ORPHA:464306
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Micrognathia, Micromelia ORPHA:1423
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea OMIM:604931
Microform Holoprosencephaly
Ambiguous genitalia, Panhypopituitarism, Maternal diabetes, Short nose, Cyclopia, Hypothyroidism,... ORPHA:280200
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Choanal atresia, Proptosis, Hypertelorism OMIM:612247
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Hypopla... ORPHA:163966
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Hypoplasia of the maxilla, Ulnar deviation of finger, Depres... ORPHA:1529
Clark-Baraitser Syndrome
Short nose, Sandal gap, Clinodactyly, Depressed nasal bridge, Obesity OMIM:617752
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Coffin-Siris Syndrome 9
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Growth delay, Abnormality of... OMIM:615866
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Diastrophic Dysplasia
Disproportionate short-limb short stature, Hitchhiker thumb, Laryngotracheal stenosis, Short fing... OMIM:222600
Short Syndrome
Glucose intolerance, Underdeveloped nasal alae, Deeply set eye, Lipoatrophy, Lipodystrophy, Insul... OMIM:269880
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Delayed epiphyseal ossification, Metaphyseal irregularity, Central vertebra... OMIM:602557
Chromosome 14Q11-Q22 Deletion Syndrome
Cryptorchidism, Short nose, Hypoplasia of the corpus callosum, Growth delay, Deeply set eye, Pate... OMIM:613457
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Short nose, Wide anterior fontanel, Rhizomelia, Short distal ph... OMIM:616638
Tetrasomy 5P
Short hallux, Short nose, Wide anterior fontanel, Overlapping toe, Micrognathia, Postnatal growth... ORPHA:3309
Opsismodysplasia
Squared iliac bones, Short nose, Rhizomelia, Short palm, Metaphyseal cupping, Hypoplastic pubic b... OMIM:258480
Miller-Dieker Syndrome
Short nose, Hypoplasia of the corpus callosum, Growth delay, Omphalocele, Cerebral cortical atrop... ORPHA:531
Baraitser-Winter Syndrome 1
Cryptorchidism, Pachygyria, Short nose, Hypertelorism, Micropenis, Patent ductus arteriosus, Post... OMIM:243310
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Increased size of nasopharyngeal adenoids, Toe cl... ORPHA:457395
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Finger syndactyly, Split hand, Aplasia/Hypoplasia of the lungs, S... ORPHA:2145
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Handgrip myotonia, Torticollis, Aut... ORPHA:97240
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Macrocephaly/Autism Syndrome
Postnatal macrocephaly, Biparietal narrowing, Short nose, Depressed nasal bridge, Obesity OMIM:605309
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Hypertelorism, Choanal stenosis, Absent septum pell... OMIM:101200
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Ruvalcaba Syndrome
Convex nasal ridge, Abnormality of vertebral epiphysis morphology, Short nose, Synostosis of carp... ORPHA:3121
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Slender finger, Failure to thrive, Ulnar deviation of finger, Microg... ORPHA:1895
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Autosomal Dominant Omodysplasia
Cryptorchidism, Ambiguous genitalia, Hypertelorism, Short nose, Bifid scrotum, Rhizomelia, Hypopl... ORPHA:93328
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Dwarfism, Familial, With Muscle Spasms
Proptosis, Short stature, Severe short stature, Large beaked nose OMIM:600771
Desbuquois Syndrome
Camptodactyly of finger, Severe short stature, Proptosis, Anteverted nares, Disproportionate shor... ORPHA:1425
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Convex nasal ridge, Acroosteolysis of dis... ORPHA:90154
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypertelorism, Short nose, Bifid scrotum, Anosmia, Abnormality of the nares, Hypoplasia of penis,... ORPHA:1295
Keppen-Lubinsky Syndrome
Underdeveloped nasal alae, Flexion contracture, Absence of subcutaneous fat, Proptosis, Failure t... OMIM:614098
8P23.1 Microdeletion Syndrome
Biparietal narrowing, Short nose, Broad thumb, Growth delay, Broad hallux phalanx, Weight loss, W... ORPHA:251071
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Short nose, Short stature, Sandal gap OMIM:300887
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Congenita... ORPHA:363528
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Endometr... ORPHA:273
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Overlapping toe, Narrow pelvis bone, Short metacarpal, Small epiphyses, Short stature... OMIM:616723
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones, Hypoplastic pe... ORPHA:93351
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Scrotal hypoplasia, Patent ductus arteriosus... OMIM:618454
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Short nose, Underdeveloped nasal alae, Micrognathia, Growth delay, Intra... ORPHA:2083
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Macrocephaly, Short nose, Microretrognathia, Wide nasal bridge OMIM:613603
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Depressed nasal ridge, Microcephaly OMIM:613885
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Optic Pathway Glioma
Growth delay, Precocious puberty, Proptosis ORPHA:2086
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Anteverted nares, Short nose OMIM:300558
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... OMIM:210720
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Atrial septal defect, Sandal gap, Obesity, Arachnodactyly, Micromelia ORPHA:1035
Dyssegmental Dysplasia With Glaucoma
Proptosis, Short stature, Delayed epiphyseal ossification, Hip contracture, Elbow flexion contrac... OMIM:601561
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous syndactyly between fingers 2 ... OMIM:601224
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Abnormal heart morphology, Broad long bones, Hypoplastic ilia, Flexion contr... ORPHA:1865
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Pneumonia, Hyperacti... ORPHA:90790
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Hip dysplasia, 2-3 toe syndactyly, Flexion con... OMIM:616809
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Lipodystrophy, Insulin-resistant diabetes mellitus, Polyc... ORPHA:435651
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short middle phalanx of finger, Hitchhiker thumb, Short greater sciatic no... OMIM:256050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Primary microcephaly, Small for gestational age, Short stature, Secondary microcephaly ORPHA:289266
Toluene Embryopathy
Biparietal narrowing, Short nose, Short stature, Hypoplasia of the zygomatic bone, Microcephaly, ... ORPHA:1920
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Partial agenesis of the corpus callosum, Anterior pituitary a... OMIM:610829
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Meacham Syndrome
Pulmonary sequestration, Cryptorchidism, Anomalous pulmonary venous return, Ambiguous genitalia, ... ORPHA:3097
20Q11.2 Microduplication Syndrome
Cryptorchidism, Short nose, Bifid scrotum, Micropenis, Growth delay, Severe intrauterine growth r... ORPHA:363659
Acrocraniofacial Dysostosis
Craniosynostosis, Anteverted nares, Proptosis, Short stature, Hypotelorism, Prominent nasal bridg... OMIM:201050
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ambiguous genitalia, Urogenital sinus anomaly, Increased serum... OMIM:618901
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Short nose, Rhizomelia, Abnormality of the radius, Short stature, Abno... ORPHA:93329
Marshall-Smith Syndrome
Craniosynostosis, Hypertelorism, Short nose, Choanal atresia, Proptosis, Reduced bone mineral den... ORPHA:561
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Postnatal growth retardation, Flat ac... OMIM:615777
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
C Syndrome
Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Short nose, Short metacarpal,... OMIM:211750
Distal Monosomy 17Q
Abnormal thumb morphology, Abnormality of the metacarpal bones, Small hand, Aplasia/Hypoplasia of... ORPHA:1597
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Vaginal atresia, Uterus didelphys, Parathyroid hypoplasia, Severe postnatal growt... ORPHA:2237
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Postnatal growth retardation, Wide nasal bridge, Decreased body weight, Short stature... OMIM:300749