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
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Nondisjunction
Decreased fertility OMIM:158250
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Prominent nasal bridge, Short stature, Cryptorchidis... ORPHA:163971
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... ORPHA:261534
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge,... ORPHA:432
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... OMIM:614841
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Anosmia, Primary amenorrhea, Small pituitary gland, Mic... OMIM:614880
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 17
Male infertility OMIM:617214
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
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
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
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
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... OMIM:612702
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, ... ORPHA:90796
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... ORPHA:90791
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... ORPHA:99330
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, St... ORPHA:2232
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Microcephaly, Delayed puberty, Clinod... ORPHA:217340
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing... ORPHA:3044
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Proptosis, Intrauterine growth retardation ORPHA:3303
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Short... OMIM:612079
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Aarskog-Scott Syndrome
Inguinal hernia, Anteverted nares, Short stature, Elevated circulating luteinizing hormone level,... OMIM:305400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Reduced bone min... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... ORPHA:739
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... OMIM:616113
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... OMIM:613038
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... ORPHA:398069
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:90695
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Osteopenia, Multiple joint contractures, Hypergonadotropic hypogonadism... ORPHA:2959
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s... ORPHA:3464
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Amenorrhea, Weight loss, Infertil... ORPHA:465508
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98754
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Inguinal hernia, Anteverted nares, Small for gestational age, Short stature,... ORPHA:352490
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98793
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
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Hypertelorism, Decreased circulating osteocalcin level, Short nose, Centra... OMIM:125700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177904
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177901
Filippi Syndrome
Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Wide nasal bridge, Propt... OMIM:272440
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Nasal congestion, Ovaria... ORPHA:562
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Hypertelorism, Cryptorchidism, Unilambdoid synostosis, Wide nasal bridge, Propt... OMIM:618577
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Cryptorchidism, I... OMIM:615381
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Hypertelorism, Cryptorchidism, Short nose, Convex nasal ridge ORPHA:1695
Osteomesopyknosis
Infertility OMIM:166450
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly, Short nose OMIM:300577
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of sec... ORPHA:785
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... OMIM:615849
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short nose, Short stature, Primary microcephaly OMIM:245570
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:614732
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Hypospadias, Craniosynostosis, Prominent nose,... ORPHA:93932
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Perlman Syndrome
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Anteverted nares, Cryptorchidism, Hyperinsu... ORPHA:2849
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Hip dysplasia, Short nose, Failure to thrive OMIM:618379
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Mandibular aplasia, Intraute... ORPHA:1832
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short stature, Micrognathia ORPHA:2015
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Short nose, Retrognathia OMIM:613670
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Long penis, Hyperinsulinem... OMIM:246200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:95494
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow cont... OMIM:617201
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphol... ORPHA:2370
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, Decre... OMIM:201100
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Brachyda... ORPHA:1277
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge... OMIM:613457
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Broad nasal tip, Bifid nas... ORPHA:1827
Pseudoachondroplasia
Metaphyseal widening, Delayed epiphyseal ossification, Increased laxity of ankles, Abnormal femor... ORPHA:750
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia OMIM:605231
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Small hand, Abnormal femu... ORPHA:969
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... ORPHA:54595
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Chromosome 6Q11-Q14 Deletion Syndrome
Inguinal hernia, Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism... OMIM:613544
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Limb joint contracture, Coxa ... ORPHA:356961
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, S... OMIM:302950
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose ORPHA:1355
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Advance... OMIM:614613
Myofibrillar Myopathy 10
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow ... OMIM:619040
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Growth delay, Short nose, Progressive microcephaly ORPHA:438178
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... OMIM:250460
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Small for gestati... OMIM:615834
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Short stature, Prominent nose, Bulbous nose, Proptosis OMIM:618492
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Elevated circulating creatine kinas... ORPHA:206549
Pierpont Syndrome
Wide nose, Short stature, Broad nasal tip, Hypertelorism, Cryptorchidism, Deeply set eye, Decreas... OMIM:602342
47,Xyy Syndrome
Male infertility, Hypospadias, Hypertelorism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:8
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Microcephaly ORPHA:46
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Hypertelorism, Cryptorchidism, Intrauterine growth retardati... OMIM:616910
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Robinow Syndrome
Small scrotum, Anteverted nares, External genital hypoplasia, Webbed penis, Depressed nasal bridg... ORPHA:97360
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea, Hypertelorism OMIM:191830
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Bicornuate u... ORPHA:2143
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Chung-Jansen Syndrome
Anteverted nares, Hypertelorism, Cryptorchidism, Obesity, Deeply set eye, Short nose OMIM:617991
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... OMIM:620306
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Microcephaly, Growth delay, Intrauterine gr... ORPHA:1495
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Cryptorchidism, Hy... OMIM:607143
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... OMIM:608612
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Anteverted nares, Craniosynostosis, Depressed nasal bridge, Hypertelorism, Cryptorch... ORPHA:171839
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypochondroplasia
Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short femoral neck, Di... OMIM:146000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia... OMIM:262190
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of pro... OMIM:300863
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating g... ORPHA:243
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Wide nasal bridge, Fibular hypoplasia, Talipes e... OMIM:201170
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri... ORPHA:2831
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Recurrent patellar dislocation, Capitate-hamate... OMIM:614078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Macrocephaly, Short nose OMIM:611936
Pontocerebellar Hypoplasia Type 10
Growth delay, Proptosis, Wide nasal bridge, Underdeveloped nasal alae ORPHA:411493
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Sh... OMIM:102370
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Coxa ... ORPHA:166272
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Broad nasal tip, Hypertelorism, Cryptorchidism, Pancreatic lymphangiectasis, Pos... ORPHA:1655
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Truncal obesity, Short nose, Macrocephaly ORPHA:2429
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Short stature, Metaph... OMIM:613320
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Infertility OMIM:240950
Autosomal Dominant Omodysplasia
Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Hypertelorism, Cryptorchi... ORPHA:93328
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Rhiny
Short nose, Anteverted nares OMIM:180360
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Congestive heart fai... OMIM:602390
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Short stature, Hypertelorism, Cryptorchidism, Irregular... ORPHA:950
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply... ORPHA:1227
Stuve-Wiedemann Syndrome 1
Myotonia, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Sho... OMIM:601559
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Anteverted nares, Prominent nasal bridge, Hypertelorism, Short stature, Cryptorchidi... ORPHA:3063
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Cherubism
Bone cyst, Proptosis ORPHA:184
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Flexion contracture, Hypoplastic labia majora, Proptosis... OMIM:207410
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Craniosynostosis, Hypertelorism, Cryptorchidism, Wide nasal bridge,... OMIM:175700
Peho-Like Syndrome
Short nose, Retrognathia, Progressive microcephaly, Tapered finger OMIM:617507
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Microcephaly, Obesity, Clinodactyly, Short ... OMIM:617752
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, Abnormal femur... ORPHA:1842
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Crani... ORPHA:2409
Silver-Russell Syndrome Due To 11P15 Microduplication
Relative macrocephaly, Short stature, Small for gestational age, Postnatal growth retardation, Se... ORPHA:231144
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Overhanging nasal tip, Short stature, Proptosis, Convex nasal ridge ORPHA:85172
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, External genital hypoplasia, Hypogonadotropic hypogonadism... ORPHA:177907
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Microcephaly, Delayed eruption of permanent teeth, Clinodac... OMIM:618506
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
H Syndrome
Diabetes mellitus, Lipodystrophy, Short stature, Recurrent pharyngitis, Osteolysis, Azoospermia, ... ORPHA:168569
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Hypospadias, Anteverted nares, Craniosynostosis, Hypertelorism, Precocious p... ORPHA:254346
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Join... OMIM:615419
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportionate short-limb s... OMIM:618618
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul... ORPHA:2557
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Hypertelorism, Obesity, Primary amenorrhea, Intrauterine growth r... OMIM:619737
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Proptosis, Short stature, Prominent nose OMIM:616171
Estrogen Resistance
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c... ORPHA:98855
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Fractured radius, Small for gestational age, Cardiomegaly... OMIM:616897
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... OMIM:110100
Deeah Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:619004
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Microcephaly, Micrognathia, Delayed puberty ORPHA:2598
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Fasting hypoglycemia, Hypothyroidism, Enlarged ovaries, Anteverted nare... ORPHA:769
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Short long bone, Brachydactyly ORPHA:221054
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Acroosteolysis of distal phalanges (feet), Flexion contracture, Hyperglycemia, Narrow... OMIM:248370
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,... OMIM:209900
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
17P13.3 Microduplication Syndrome
Wide nose, Inguinal hernia, Hypoplasia of penis, Hypertelorism, Short nose ORPHA:217385
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Macrocephaly, Short nose ORPHA:2835
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hypertelorism, Hurthle cell thyroid adenoma, Multiple l... ORPHA:210548
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Relative macrocephaly, Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesit... ORPHA:254525
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retard... ORPHA:96181
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Depressed nasal bridge, Short stature, Flexion contracture, Proptosis,... OMIM:618346
Verheij Syndrome
Anteverted nares, Short stature, Small for gestational age, Broad nasal tip, Microcephaly, Hip di... OMIM:615583
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Hypospadias, Hypertelorism, Broad nasal tip, Proptosis, Short nose OMIM:619736
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Choanal s... OMIM:201750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, De... OMIM:202010
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Down-sloping shoulders, Proportionate short stature, Deviation of th... ORPHA:391408
Achondroplasia
Depressed nasal bridge, Anteverted nares, Rhizomelia, Hip joint hypermobility, Bowing of the legs... ORPHA:15
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Teebi Hypertelorism Syndrome 1
Omphalocele, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Hypertelorism, ... OMIM:145420
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Depressed nasal bridge, Small for gestational age, Micrognathia, Postnatal growth r... OMIM:614541
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, Postaxial hand... OMIM:241800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Short stature, Craniosynostosis, Broad nasal tip, Wide nasal bridge, Prominent n... OMIM:619451
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Hypertelorism, Flexion c... OMIM:263210
14Q22Q23 Microdeletion Syndrome
Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdeveloped n... ORPHA:264200
Renal And Mullerian Duct Hypoplasia
Hypertelorism, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth re... OMIM:266810
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Hypertelorism, Shor... OMIM:151050
Cog2-Cdg
Small pituitary gland ORPHA:435934
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Failure to thrive, Hypospadias, Decreased response ... ORPHA:363528
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Microcephaly 5, Primary, Autosomal Recessive
Proptosis, Short stature OMIM:608716
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... OMIM:206920
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Hypertelorism OMIM:619983
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Hip contracture, Microretrognathia, Short stature, Coxa valga, Micrognathi... OMIM:618363
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Short stature, Osteolysis, Broad nasal tip ORPHA:2776
Meckel Syndrome 12
Anteverted nares, Wide nasal bridge, Hypoplasia of the uterus, Arthrogryposis multiplex congenita... OMIM:616258
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... ORPHA:353
Emery-Dreifuss Muscular Dystrophy
Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c... ORPHA:98853
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Ante... ORPHA:1327
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections,... ORPHA:391372
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Choanal atresia, Prominent nasal ... ORPHA:1716
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Epiphyseal stippling, P... ORPHA:1914
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Depressed nasal bridge, Precociou... OMIM:615485
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Chronic rhinitis, Female infertility, Goiter OMIM:617577
Opsismodysplasia
Severe short stature, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pu... ORPHA:2746
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micrognathia, Disproportionate short stature, Short foot,... ORPHA:93298
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Hypertelori... OMIM:101200
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, L... OMIM:258315
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Ogden Syndrome
Inguinal hernia, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Short c... ORPHA:276432
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose ORPHA:261120
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Abnormally ossified vertebrae, Vaginal atr... ORPHA:3301
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... OMIM:614524
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose, Hypertelorism OMIM:300143
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Hypertelorism, Cryptorchidism, Short nose ORPHA:2701
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Short nose ORPHA:1389
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Deeply set eye, Hypogonadism, S... ORPHA:2983
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short stature, Secondary microcephaly, Primary microcephaly, Short nose ORPHA:289266
Ritscher-Schinzel Syndrome 4
Short stature, Hypertelorism, Cryptorchidism, Wide nasal bridge, Hypotelorism, Deeply set eye, Pr... OMIM:619435
Fetal Hydantoin Syndrome
Bifid scrotum, Short stature, Hypertelorism, Cryptorchidism, Depressed nasal ridge, Hernia, Intra... ORPHA:1912
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Hypoplast... ORPHA:495875
X-Linked Emery-Dreifuss Muscular Dystrophy
Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c... ORPHA:98863
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growt... OMIM:601410
Septooptic Dysplasia
Short stature, Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterio... OMIM:182230
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Underdeveloped nasal alae... OMIM:269880
Smith-Kingsmore Syndrome
Depressed nasal bridge, Hypoglycemia, Rhizomelia, Hypertelorism, Large for gestational age, Crypt... OMIM:616638
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Odontochondrodysplasia 1
Delayed eruption of teeth, Relative macrocephaly, Short metacarpal, Brachydactyly, Short stature,... OMIM:184260
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Hypoplastic iliac wing, Ulnar bowing, Hypoplastic ace... OMIM:620076
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Flattened epiphysis, Genu valgum, Ulnar deviation of ... OMIM:222600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:615716
Tetralogy Of Fallot
Proptosis OMIM:187500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Depressed nasal bridge, Flexion contracture, Wide nasal bridge, Small pituitary glan... OMIM:619479
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
20Q11.2 Microduplication Syndrome
Bifid scrotum, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide na... ORPHA:363659
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Autosomal Recessive Omodysplasia
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Rhizomelia, Short stature, Cryptorchi... ORPHA:93329
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Micrognathia, Macrocephaly, Short foot, Short palm, Short... ORPHA:93299
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Short stature, Micrognathia, Bulbous nose, Wide nasal bridge, Growth delay, Cam... OMIM:613604
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, Prominent fingertip pads, ... OMIM:300558
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Trigonocephaly 1
Omphalocele, Craniosynostosis, Long penis, Wide nasal bridge, Hypotelorism, Short nose OMIM:190440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, Elbow flexio... OMIM:616809
Hypophosphatasia, Childhood
Proptosis, Short stature, Craniosynostosis OMIM:241510
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Microcephaly, Delayed eruption of permanent teeth, Short distal p... OMIM:619356
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Micrognathia, Microcep... ORPHA:3078
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Microcephaly, Small hand, Cone-shap... ORPHA:3121
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Overlapping toe, Short stature, Underdeveloped nasal alae, Postnatal growth ret... OMIM:613026
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Robinow Syndrome, Autosomal Dominant 2
Anteverted nares, Depressed nasal bridge, Short stature, Hypertelorism, Cryptorchidism, Proptosis... OMIM:616331
Kleeblattschaedel
Proptosis, Craniosynostosis OMIM:148800
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Short third metatarsal, Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myo... ORPHA:324442
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Anteverted nares, Hypospadias, Failure to thrive in infancy, Hypertelorism, Short sta... OMIM:611209
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Propto... ORPHA:370348
Pontocerebellar Hypoplasia, Type 3
Proptosis, Depressed nasal bridge, Short stature, Decreased body weight OMIM:608027
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Tyshchenko Syndrome
Short stature, Supernumerary nipple, Cryptorchidism, Proptosis, Intrauterine growth retardation OMIM:615102
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... OMIM:601224
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
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
14Q24.1Q24.3 Microdeletion Syndrome
Prominent nasal bridge, Hypertelorism, Cryptorchidism, Wide nasal bridge, Short nose ORPHA:401935
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypertelorism, Anosmia, Abnorm... ORPHA:1295
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... OMIM:619518
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Short nose, Growth delay, Anteverted nares ORPHA:531
Baraitser-Winter Syndrome 1
Anteverted nares, Short stature, Hypertelorism, Postnatal growth retardation, Cryptorchidism, Wid... OMIM:243310
Non-Distal Duplication 13Q
Cryptorchidism, Short nose, Hernia, Hypotelorism ORPHA:1702
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Narrow nasal tip, Promin... ORPHA:464306
Achondrogenesis
Severe short stature, Anteverted nares, Micrognathia, Macrocephaly, Short nose ORPHA:932
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Moderately short stature, Flexion contracture, Proptosis, Failure to thrive ORPHA:157965
Optic Pathway Glioma
Precocious puberty, Proptosis, Growth delay ORPHA:2086
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Femoral-Facial Syndrome
Inguinal hernia, Short stature, Maternal diabetes, Cryptorchidism, Long penis, Short nose ORPHA:1988
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Camptodactyly of finger, Underdevelop... ORPHA:2083
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Hypertelorism OMIM:614195
Laron Syndrome
Limb undergrowth, Delayed menarche, Short long bone OMIM:262500
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... OMIM:271530
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Small for gestational age, Hypoplasia of the maxilla, Progressive micro... OMIM:614261
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Proptos... OMIM:615803
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Proptosi... ORPHA:1310
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Promi... ORPHA:1555
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bilateral cryptorchidis... OMIM:619859
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... ORPHA:457395
Tetrasomy 5P
Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Postnatal growth retardation, Long... ORPHA:3309
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... ORPHA:684
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Maternal diabetes, M... ORPHA:280200
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Wide nose, Hypospadias, Short stature, Hypertelorism, Proptosis, Shawl scrotum OMIM:239710
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Wid... ORPHA:2751
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Micrognathia, Cryptorchi... OMIM:211750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... OMIM:263520
Holoprosencephaly 9
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:610829
Arthrogryposis, Distal, Type 2A
Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex... OMIM:193700
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... ORPHA:97240
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, Metatarsal osteol... OMIM:166300
Desbuquois Dysplasia 2
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Depressed nasal brid... OMIM:615777
Osteoglophonic Dysplasia
Osteopenia, Inguinal hernia, Severe short stature, Hypospadias, Camptodactyly of finger, Craniosy... OMIM:166250
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n... ORPHA:1895
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Osteolysis, Wide nasal bridge, Metacarpal osteolysis, Proptosi... ORPHA:2774
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Short stature, Hypertelorism, Cryptorchidism, Bulbous nose, Wide nasal br... ORPHA:369891
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Deeply set eye, Delayed puberty ORPHA:496790
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Anteverted nares, Hypospadias, Depressed nasal bridge, Prominent nose, Hypertelorism... OMIM:618316
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... ORPHA:93351
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short stature, Slender long bone, Macrocephaly, Short nose, Spina bifida occulta ORPHA:1185
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Failure to thrive, Lipoatrophy, Prominent nasal bridge, Narrow nose, H... OMIM:601812
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Short stature... OMIM:618529
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Short stature ORPHA:329249
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Hypoplastic ilia,... ORPHA:1865
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly ORPHA:833
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope... OMIM:615866
Ohdo Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasa... OMIM:249620
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent... OMIM:255800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Wide nasal ... OMIM:617102
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... OMIM:210720
Warburg Micro Syndrome 2
Small scrotum, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Flexion cont... OMIM:614225
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Choanal atresia, Craniosynostosis, Hypertelorism OMIM:612247
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... ORPHA:2631
Toluene Embryopathy
Short stature, Micrognathia, Tapered finger, Microcephaly, Hypoplasia of the zygomatic bone, Bipa... ORPHA:1920
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Failure to thrive, Lipodystrophy, Underdeveloped nasal alae, Postnatal growt... ORPHA:435628
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Abnormal ... ORPHA:3097
Desbuquois Syndrome
Severe short stature, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Proptosi... ORPHA:1425
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Craniosynostosis, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypo... OMIM:613174
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micrognathia, Split hand, Intrauterine growth retardation, Shor... ORPHA:2145
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Wide anterior fontanel, Flat ... ORPHA:163649
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f... ORPHA:2633
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Rhizomelia, Wide nasal bridge, Obesity OMIM:618821
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Distal Deletion 9P
Hypospadias, Hypertelori