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.

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Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
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
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Deeply set eye, Coronal craniosynostosis, Cryptorchidism, Decreased serum testosterone concentrat... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Deeply set eye, Intrauterine growth retardation, Small for gestational age, Bulbous nose, Cryptor... OMIM:300869
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
X-Linked Intellectual Disability, Van Esch Type
Intrauterine growth retardation, Coronal craniosynostosis, Cryptorchidism, Decreased serum testos... ORPHA:163976
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Recurrent upper respiratory tract ... ORPHA:261534
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Impotence, Male hypogonadism, Absence of pubert... ORPHA:432
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:66628
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Decreased ser... ORPHA:179494
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased... OMIM:614841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Recurrent upper respiratory tract ... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
17Q21.31 Microduplication Syndrome
Toe syndactyly, Delayed puberty, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Microc... ORPHA:217340
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism... OMIM:612702
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Primary amenorrhea, Cryptorchidi... OMIM:618841
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Osteoporosis, Microce... ORPHA:2232
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... ORPHA:398079
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Streak ov... ORPHA:261529
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Abnormal response to ACTH stimulation... ORPHA:157954
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Premature ovarian insufficiency, Decreased serum ... ORPHA:101006
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fi... OMIM:200700
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Ovarian cyst, Adrenocorticotropic hormone deficien... ORPHA:91348
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... ORPHA:398069
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Osteopenia, Decreased circulating osteocalcin level, Wide nose, Hyper... OMIM:125700
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... ORPHA:93323
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Aarskog-Scott Syndrome
Anteverted nares, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, ... OMIM:305400
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Osteopenia, Multiple joint contractures, Delayed puberty, Small for ges... ORPHA:2959
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Deeply set eye, Cleft ala nasi, Elevated circulating luteinizing hormone level, Decreased serum t... ORPHA:3044
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Non-Acquired Panhypopituitarism
Infertility, Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:90695
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Bulbous nose, Microcephaly, Simplified gyral patte... OMIM:618492
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Disproportionate short stature, Rounded epiphyses, ... OMIM:611702
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Filippi Syndrome
Decreased body weight, Intrauterine growth retardation, Underdeveloped nasal alae, Cryptorchidism... OMIM:272440
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Osteopenia, Hyperinsulinemia, Delayed puberty, Micropen... ORPHA:3464
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Osteomesopyknosis
Infertility OMIM:166450
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Sheehan Syndrome
Hypoglycemia, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, Central adren... ORPHA:91355
Tetralogy Of Fallot
Cryptorchidism, Abnormal nasal morphology, Intrauterine growth retardation, Proptosis ORPHA:3303
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea OMIM:615555
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Anteverted nares, Wide nasal bridge, Short stature, Depressed nasal bridge, Hyp... OMIM:616430
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Severe short stature, Decreased serum insulin-like growth factor 1... OMIM:618157
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Primary amenorrhea, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Loss... OMIM:604367
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short... OMIM:146000
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Mental Retardation, X-Linked 91
Clinodactyly, Short 5th finger, Obesity, Small hand, Short foot, Short nose OMIM:300577
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Short... OMIM:608716
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Anteverted nares, Short nose, Micrognathia ORPHA:2015
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Hypertelorism, Small for gestational age, Cryptorchidism, Wide nasal bridge, Co... ORPHA:352490
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Depressed nasal ridge, Micrognathia, Microcephaly, Mandibular ap... ORPHA:1832
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Hypoglycemia, Decreased response to growth hormone stimulatio... ORPHA:95494
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Prominent ... OMIM:241080
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture, Insulin resistance, Cryptorchidism, Convex nasal ridge, Osteo... OMIM:615381
Osteolysis Syndrome, Recessive
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of th... OMIM:259610
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Obesity, Retrognathia, Macrocephaly, Short nose OMIM:613670
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Culler-Jones Syndrome
Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypo... OMIM:615849
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Upper-limb metaphyseal irregularit... OMIM:618728
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Pancreatic islet-cell hy... OMIM:246200
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Myotonia, Short tibia, Short nose, Bowing of the long bones, Metaphyseal r... OMIM:601559
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Hypogonadotropic hypogonadism, Cere... ORPHA:54595
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Simplified gyral pattern, Short ... OMIM:616171
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Hypoglycemia,... ORPHA:95619
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal mitral valve morphology, Micrognathia, Mesomelia, Abnormal shoulder morph... ORPHA:1277
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Intellectual Developmental Disorder, Autosomal Dominant 26
Anteverted nares, Hypertelorism, Intrauterine growth retardation, Small for gestational age, Wide... OMIM:615834
Developmental And Epileptic Encephalopathy 73
Microcephaly, Narrow nasal bridge, Failure to thrive, Hip dysplasia, Short nose OMIM:618379
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Wide nasal bridge, Growth delay, Simplified gyral pattern, Abnormal ce... ORPHA:411493
Shashi-Pena Syndrome
Broad nasal tip, Hypoglycemia, Osteoporosis, Hypertelorism, Proptosis OMIM:617190
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Irregular carpal bones, Increased laxity of ankles, Abnormalit... ORPHA:750
Aromatase Deficiency
Primary amenorrhea, Osteopenia, Delayed epiphyseal ossification, Insulin resistance, Cryptorchidi... ORPHA:91
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Epiphyseal stippling, Microcephaly, Short stature, Short nasal septum, Short nose, Depre... OMIM:302950
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Small for gestational age, Short ribs, Sandal gap, Rhizomelia, Hypoplasia o... OMIM:607143
Fg Syndrome Type 1
Small pituitary gland, Craniosynostosis, Progressive flexion contractures, Hypertelorism, Slender... ORPHA:93932
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Reduced bone mineral density, Proptosis, Short nose ORPHA:2370
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Epiphyseal stippling, Impaired sensitivity to thyroid hormone, Goiter,... OMIM:274300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Agenesis of corpus callosum, Cryptorchidism, Wide nasal bridge, Hypoplast... OMIM:618577
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Pontocerebellar Hypoplasia, Type 10
Progressive microcephaly, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Growth de... OMIM:615803
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Non-Distal Trisomy 10Q
Convex nasal ridge, Micrognathia, Microcephaly, Depressed nasal bridge, Short stature, Short nose ORPHA:1695
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, Depressed nasal bridge, Retrognathia, Anteverted nares, Short nose OMIM:614069
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Small cerebral cortex, Proptosis OMIM:604804
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Failure to thrive, Short stature, Hypogonadism, Decre... OMIM:201100
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, Lo... ORPHA:280356
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Recurrent upper respiratory tract infections, Decreased circula... ORPHA:293978
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Microcephaly, Short stature, Abdominal obesity, Postnatal growth retardation OMIM:618160
Acromicric Dysplasia
Brachydactyly, Short palm, Bulbous nose, Abnormality of epiphysis morphology, Severe short statur... ORPHA:969
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Depressed nasal bridge, Epiphyseal dysplasia, Metaphyseal dyspla... OMIM:614732
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short stature, Short nose, Primary microcephaly OMIM:245570
Slc35A2-Cdg
Tetralogy of Fallot, Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Failure t... ORPHA:356961
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Overhanging nasal tip, Convex nasal ridge, Microcephaly, Narrow nasal bridge, Short stature, Prop... ORPHA:85172
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Camptodactyly of finger, Arrhythmia,... ORPHA:2928
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, S... ORPHA:231720
Donnai-Barrow Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Abnorm... ORPHA:2143
Perlman Syndrome
Deeply set eye, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Wide nasal bridge... ORPHA:2849
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Osteopenia, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Seco... ORPHA:243
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Broad nasal tip, Decreased body weight, Short palm, Bulbous nose, Microcephaly, Short stature, Sh... OMIM:612947
Fatty Acyl-Coa Reductase 1 Deficiency
Progressive microcephaly, Growth delay, Short stature, Depressed nasal bridge, Short nose ORPHA:438178
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short stature, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Growth delay, Micrognathia, Microcephaly, Short stature, Camptod... ORPHA:1495
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short columella, Dental malocclusion, Sho... OMIM:155050
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Wide nasal... OMIM:201170
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Anterior hypopituitar... OMIM:221750
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, Short stature, Short toe, Genu ... OMIM:614078
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Depressed nasal ridge, Deviation of finger, Rhizomelia, Short metacarpal, Short hu... ORPHA:2831
Robinow Syndrome, Autosomal Dominant 2
Hypertelorism, Cryptorchidism, Micropenis, Short stature, Depressed nasal bridge, Umbilical herni... OMIM:616331
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Myofibrillar Myopathy 10
Sandal gap, EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, In... OMIM:619040
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Flexion contracture, Intrauterine growth retardation, Small for gestationa... OMIM:618346
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anteri... ORPHA:3157
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive pes cavus, Intrinsic hand muscle atrophy, Inc... ORPHA:488650
47,Xyy Syndrome
Varicocele, Hypertelorism, Azoospermia, Micropenis, Cryptorchidism, Increased serum testosterone ... ORPHA:8
Acromelic Frontonasal Dysplasia
Broad nasal tip, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Midline central nerv... ORPHA:1827
Adenylosuccinate Lyase Deficiency
Microcephaly, Anteverted nares, Short nose ORPHA:46
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Cone-shaped epiphysis, Obesity,... OMIM:614613
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Microcephaly, Prominent nasal bridge, Basal ganglia calcification, Proptosis OMIM:608432
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Flexion contracture, Hyperinsulinemia, Decreased adipose tissue around neck, ... OMIM:608612
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Arrhythmia, Aplasia/Hypoplasia of t... ORPHA:1350
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Increased circulating ferriti... OMIM:602390
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Narrow nasal ridge, Flexion contracture, Hyperinsulinemia, Increased facial adipos... OMIM:248370
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Short 1... OMIM:251450
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Primary amenorrhea, Vaginal atresia, Hypertelorism OMIM:191830
Cherubism
Proptosis, Bone cyst ORPHA:184
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Cerebral cortical atrophy OMIM:609195
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Underdeveloped nasolabial fold, External genital hypoplasia, Microcephaly, Dilat... ORPHA:177907
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Intrauterine growth retardation, Diabetes mellitus, Maturity-onset diabete... OMIM:613370
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Craniosynostosis, Hypertelorism, Patent ductus arteriosus, Cryptorchidism, Micr... ORPHA:171839
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Osteoporosis, Decrea... ORPHA:2965
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Macrocephaly, Mandibular prognathia, Short nose, Truncal obesity ORPHA:2429
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of proxim... OMIM:300863
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, Decreased body weight, Progressive microcephaly, Short stature, Depressed nasal... OMIM:608027
Meckel Syndrome 12
Agenesis of corpus callosum, Intrauterine growth retardation, Vaginal atresia, Wide nasal bridge,... OMIM:616258
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased serum testoster... OMIM:610489
Pierpont Syndrome
Broad nasal tip, Decreased body weight, Short palm, Microcephaly, Failure to thrive, Short statur... OMIM:602342
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Mesomelia, Short foot OMIM:611263
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Recurrent upper respiratory tract infections, Obesity, Tapered finger, Congenital h... OMIM:300209
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... OMIM:301033
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Talipes, Abnormality of epiphysis morphology, Atrial septal defect, Sh... ORPHA:1842
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Ab... OMIM:182230
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Broad nasal tip, Clinodactyly, Wide nasal bridge, Relative macrocephaly, Micrognat... OMIM:618529
Acromicric Dysplasia
Short palm, Bulbous nose, Severe short stature, Short metacarpal, Cone-shaped epiphysis, Short ph... OMIM:102370
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynosto... OMIM:207410
Mesomelic Limb Shortening And Bowing
Bowing of the arm, Bowing of the legs, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Bardet-Biedl Syndrome 1
Insulin resistance, Micropenis, Abnormality of the ovary, Obesity, Vaginal atresia, Truncal obesi... OMIM:209900
Mccune-Albright Syndrome
Irregular menstruation, Fibrous dysplasia of the bones, Abnormality of the thyroid gland, Polyost... ORPHA:562
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Robinow Syndrome
Hypoplastic labia majora, Broad nasal tip, Small scrotum, Hypertelorism, Small for gestational ag... ORPHA:97360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Intrauterine growth retardation, Polydactyly, Microcephaly, Depressed nasal b... OMIM:616910
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Proptosis, Hypoplasia of the corpus callosum OMIM:601420
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Inguinal hernia, Hypoplasia of the corpus callosum, Wide nose, Hypertelorism... ORPHA:217385
Premature Aging Syndrome, Penttinen Type
Osteopenia, Narrow nose, Lipoatrophy, Osteolytic defects of the phalanges of the hand, Prominent ... OMIM:601812
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Osteoporosis, Secondary amenorrhea, Incre... OMIM:615300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98855
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Short stature, Proptosis, Osteolysis ORPHA:2776
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia, Short nose, Brachydactyly,... ORPHA:439822
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Obesity, Wide nasal bridge, Microcephaly, Macrocephaly, Short nose OMIM:611936
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Delayed eruption of teeth, Depres... ORPHA:950
Burn-Mckeown Syndrome
Wide nasal bridge, Short stature, Bilateral choanal atresia, Prominent nasal bridge, Short nose ORPHA:1200
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Small for gestational age, Clinodactyly of the 5th finger, Sever... ORPHA:231144
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Amelogenesis imperfecta, Coxa valga, ... OMIM:618363
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Small for gestational age, Short ribs, Squared iliac bones, Metaphyseal cuppi... OMIM:613320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Patent ductus arteriosus, Depressed nasal bridge, Hypertelorism, Anteverted nares, Coa... OMIM:618961
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased pineal volume, Increased circulating androgen concentration, Postprandi... ORPHA:769
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Delayed puberty, Short nose, Micrognathia ORPHA:2598
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Deeply set eye, Hypothyroidism, Severe postnatal growth retardation, Short stature, Depressed nas... OMIM:613038
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Obesity, Relative macrocephaly, Microg... ORPHA:254525
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Wide nasal bridge, Depressed nasal bridge, Female infertility... OMIM:110100
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Tapered finger, Short phalanx of finger, Long fingers, Short nose, Proximal placeme... OMIM:613458
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Slender finger, Decreased body weight, Proportionate short stature, Small for gesta... ORPHA:391408
Peho-Like Syndrome
Progressive microcephaly, Short nose, Retrognathia OMIM:617507
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Hypoglycemia, Adrenal hyperplasia, Increased urina... ORPHA:786
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Mitochondrial hypertrophy, Female infertility, Premature ovaria... OMIM:619518
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Achondrogenesis Type 1B
Severe short stature, Micrognathia, Disproportionate short stature, Macrocephaly, Anteverted nare... ORPHA:93298
Maxillonasal Dysplasia
Depressed nasal ridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Congenital diaphragmatic hernia, Microcephaly, Failure to thrive... OMIM:301022
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short stature, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Short nose ORPHA:2835
H Syndrome
Lipodystrophy, Amenorrhea, Hernia, Azoospermia, Micropenis, Chronic rhinitis, Short stature, Recu... ORPHA:168569
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Small for gestational age, Short ribs, Decreased fibular diameter, Hypertrop... OMIM:616897
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Achilles tendon contracture, Increased endomysial connecti... ORPHA:353
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Intrauterine growth retardation, Abnormality of dental eruption, M... ORPHA:1327
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Narrow nasal bridge, Short stature, Spina bifida occulta, Short ... ORPHA:1514
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Short stature, Decreased serum insulin-like growth factor 1, Hypop... ORPHA:67045
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Progressive microcephaly, Small for gestational age, Hypoplasia of t... OMIM:614261
Joubert Syndrome 38
Small pituitary gland, Short stature, Decreased serum insulin-like growth factor 1, Decreased res... OMIM:619476
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hypoglycemia, Hy... ORPHA:2298
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98853
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Mietens Syndrome
Avascular necrosis of the capital femoral epiphysis, Coxa valga, Hypoplasia of the ulna, Severe s... ORPHA:2557
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Rhiny
Anteverted nares, Short nose OMIM:180360
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Chromosome 16Q22 Deletion Syndrome
Small for gestational age, Wide nasal bridge, Growth delay, Broad hallux, Micrognathia, Microceph... OMIM:614541
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Short nose ORPHA:1450
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... ORPHA:65681
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Epiphyseal stippling, Choanal atresia, Depressed nasal bridge, H... ORPHA:1914
Tetralogy Of Fallot
Proptosis OMIM:187500
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Hypertelorism, Underdeveloped nasal alae, Convex nasal ridge, Decreased skul... OMIM:263210
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad columella, Progressive microcephaly, Depressed nasal bridge, Failure to thrive, Macrocephal... OMIM:617865
Achondrogenesis Type 1A
Short palm, Severe short stature, Micrognathia, Short nose, Macrocephaly, Anteverted nares, Short... ORPHA:93299
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Microretrognathia, Postaxial hand polydactyly, Cachexia, Short nose ORPHA:1389
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infections, Prominent nasolabial... ORPHA:391372
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Disproportiona... OMIM:618618
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, 4-5 metacarpal... OMIM:206920
Kleeblattschaedel
Craniosynostosis, Proptosis OMIM:148800
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Micrognathia, Depressed nasal bridge, Short nose ORPHA:261120
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98863
Developmental And Epileptic Encephalopathy 75
Proptosis, Hypoplasia of the corpus callosum, Wide nasal bridge, Cerebral cortical atrophy, Secon... OMIM:618437
Hypophosphatasia, Childhood
Short stature, Craniosynostosis, Proptosis OMIM:241510
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus c... ORPHA:2409
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, Intrauterine growth retardation, Bulbous nose, Growth delay, Microgn... OMIM:613604
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture, Micropenis, Wide nasal bridge, Depressed nasal bridge... OMIM:619479
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Microcephaly, Postnatal growth retardation, Short nose OMIM:615419
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Hip joint hypermobility, Short proximal phalanx ... ORPHA:15
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Broad nasal tip, Hypertelorism, Microcephaly, Inguinal hernia, Hypoplasia of the corpus callosum,... OMIM:618354
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Long toe, Decreased fibular diameter, Microcephaly, Arachnodactyly, Sh... OMIM:619489
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Obesity, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Small scrotum, Hypoplasia of penis, Reduced bone mineral density, Hypogonadism, S... ORPHA:2983
Chromosome 19Q13.11 Deletion Syndrome, Distal
Intrauterine growth retardation, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Cario... OMIM:613026
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, S... ORPHA:2746
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the maxilla, Depresse... ORPHA:1529
Chung-Jansen Syndrome
Cryptorchidism, Obesity, Hypertelorism, Anteverted nares, Short nose OMIM:617991
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Micrognath... OMIM:609945
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Cessation of head growth... OMIM:603896
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Depressed nasal bridge, Abnormal periventricular white... OMIM:613443
Chromosome 5P13 Duplication Syndrome
Hypotelorism, Craniosynostosis, Agenesis of corpus callosum, Bulbous nose, Small for gestational ... OMIM:613174
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Progressive microcephaly, Short nose, Micrognathia OMIM:617802
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Osteopenia, Flexion contracture, Failure to thrive, Proptosis ORPHA:157965
Acrocephalopolydactyly
Brachydactyly, Short nose, Depressed nasal ridge, Short long bone ORPHA:221054
Chromosome 14Q11-Q22 Deletion Syndrome
Deeply set eye, Patent ductus arteriosus, Cryptorchidism, Growth delay, Microcephaly, Failure to ... OMIM:613457
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Delayed eru... OMIM:184260
Achondrogenesis
Severe short stature, Micrognathia, Macrocephaly, Anteverted nares, Short nose ORPHA:932
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Increased serum testosterone level, Miscarriage, Inguinal hernia... ORPHA:96181
19P13.12 Microdeletion Syndrome
Hypothyroidism, Craniosynostosis, Intrauterine growth retardation, Cryptorchidism, Obesity, Micro... ORPHA:254346
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Hypotelorism, Hypertelorism, Inguinal hernia, Short stature, Umbilical hernia, S... OMIM:613544
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Calcaneovalgus deformity, Severe postnatal growth r... ORPHA:3078
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, Cryptorchidism, Micropenis, Vaginal atresia, Pancreatic lymphangiectasis, Abnorm... ORPHA:1655
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of toe, Micrognathia, Microcephaly, Short di... OMIM:619356
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Weakness of the intrinsic hand muscles, Achilles tendon contracture, Hand muscle atrophy, Foot do... ORPHA:324442
Verheij Syndrome
Clinodactyly, Short 5th finger, Wide nasal bridge, Growth delay, Microcephaly, Short stature, Hip... OMIM:615583
Gms Syndrome
Short palm, Microcephaly, Depressed nasal bridge, Small hand, Proportionate short stature, Short ... OMIM:138770
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Deeah Syndrome
Decreased body weight, Neonatal hypoglycemia, Intrauterine growth retardation, Anterior pituitary... OMIM:619004
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hypertelorism, Agenesis of corpus callosum, Cryptorchidism, Wide nasal bridge, ... OMIM:175700
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Depressed nasal bridge, Maternal diab... ORPHA:563612
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Metaphyseal cupping, Micrognathia, Metaphyseal wideni... OMIM:614524
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Cryptorchidism, Microcephaly, Decreased response to growth hormone stimulation te... ORPHA:363528
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Amenorrhea, Imperforate hymen OMIM:237100
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Microcephaly, Short stature, Proptosis, Massively thickened long bone cortices OMIM:122900
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Omodysplasia 1
Fibular hypoplasia, Atrial septal defect, Rhizomelia, Increased fibular diameter, Wide nasal brid... OMIM:258315
Pallister-Hall-Like Syndrome
Micrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Short nose, Macrocephaly, Hip d... OMIM:241800
Apert Syndrome
Lambdoidal craniosynostosis, Craniosynostosis, Shallow orbits, Agenesis of corpus callosum, Coron... OMIM:101200
Laron Syndrome
Delayed menarche, Limb undergrowth, Short long bone OMIM:262500
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Convex nasal ridge, Short nose OMIM:200130
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Delayed epiphyseal ossification, Disproportionate short s... ORPHA:93308
Microform Holoprosencephaly
Hypotelorism, Hypothyroidism, Maternal diabetes, Agenesis of corpus callosum, Intrauterine growth... ORPHA:280200
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Delayed eruption of teeth, Abnormali... ORPHA:1458
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Carpal osteolysis, Metacarpal osteolysis, Wide nasal bridge, Osteolysis, Cachexia, Camptodactyly ... ORPHA:2774
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Short stature, Prominent nasal bridge, Anteverted nares, Prominent fingertip pads, ... OMIM:300558
Hydranencephaly
Atrophic pituitary gland, Hypotelorism, Dysgenesis of the thalamus, Intrauterine growth retardati... ORPHA:2177
Brachyolmia Type 1, Hobaek Type
Short femoral neck, Disproportionate short-trunk short stature, Sclerotic foci of metaphyses of t... OMIM:271530
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cerebral atrophy, Cryptorchidism, Rhizomelia, Inguinal hernia, Short stature, Failure to thrive, ... OMIM:602613
Dyrk1A-Related Intellectual Disability Syndrome
Deeply set eye, Multiple joint contractures, Anterior pituitary hypoplasia, Patent ductus arterio... ORPHA:464306
Graves Disease, Susceptibility To, 1
Goiter, Graves disease, Proptosis, Weight loss OMIM:275000
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Congenital diaphragm... OMIM:166300
Caffey Disease
Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos... ORPHA:1310
Bainbridge-Ropers Syndrome
Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Microcephaly, Dilation of lateral ven... OMIM:615485
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Diastasis recti, Metaphyseal spurs, Micrognathia, M... ORPHA:96334
Clark-Baraitser Syndrome
Clinodactyly, Sandal gap, Obesity, Depressed nasal bridge, Short nose OMIM:617752
Neu-Laxova Syndrome
Abnormal cortical gyration, Osteoporosis, External genital hypoplasia, Microcephaly, Lissencephal... ORPHA:2671
Al-Raqad Syndrome
Microcephaly, Sandal gap, Brachydactyly, Short nose OMIM:616459
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Flexion ... OMIM:601560
14Q22Q23 Microdeletion Syndrome
Small scrotum, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pitui... ORPHA:264200
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Craniosynostosis, Proptosis, Choanal atresia OMIM:612247
Smith-Kingsmore Syndrome
Large for gestational age, Short proximal phalanx of finger, Rhizomelia, Short distal phalanx of ... OMIM:616638
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea OMIM:604931
Short Syndrome
Lipodystrophy, Deeply set eye, Intrauterine growth retardation, Small for gestational age, Underd... OMIM:269880
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Multiple impacted tee... OMIM:311300
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Patent ductus arteriosus, Cryptorchidism, Micropenis, Wide nasal bri... OMIM:243310
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Acrofrontofacionasal Dysostosis 2
Shawl scrotum, Microcephaly, Short stature, Bifid scrotum, Wide nose, Hypertelorism, Proptosis, H... OMIM:239710
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Limb undergrowth, Short long bone ORPHA:1423
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Intrauterine growth retardation, Short metacarpal, Cli... ORPHA:3121
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Depressed nasal ridge, Short palm, Rhizomelia, Metaphyseal chond... ORPHA:163966
Tetrasomy 5P
Clinodactyly of the 5th finger, Short hallux, Wide nasal bridge, Micrognathia, Failure to thrive,... ORPHA:3309
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Sandal gap, Short stature, Short nose OMIM:300887
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, E... ORPHA:684
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Gonadal... OMIM:612964
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Chordee, Cryptorchidism, Microcephaly, Ambiguous genitalia, Clitoral hypertrophy, Small for gesta... OMIM:201750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Micro... OMIM:602557
Macrocephaly/Autism Syndrome
Biparietal narrowing, Obesity, Depressed nasal bridge, Postnatal macrocephaly, Short nose OMIM:605309
Miller-Dieker Syndrome
Growth delay, Omphalocele, Lissencephaly, Cerebral cortical atrophy, Hypoplasia of the corpus cal... ORPHA:531
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Disproportio... ORPHA:457395
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Atrial septal defect, Short ribs, Postax... OMIM:263520
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Edinburgh Malformation Syndrome
Slender finger, Micrognathia, Choanal atresia, Failure to thrive, Long fingers, Ulnar deviation o... ORPHA:1895
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, F... ORPHA:97240
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Intrauterine growth retardation, Underdeveloped nasal alae, Growth delay, Microgna... ORPHA:2083
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Desbuquois Syndrome
Disproportionate short-limb short stature, Severe short stature, Depressed nasal bridge, Camptoda... ORPHA:1425
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Macrocephaly, Microretrognathia, Wide nasal bridge, Short nose OMIM:613603
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Autosomal Dominant Omodysplasia
Cryptorchidism, Rhizomelia, Hypoplasia of penis, Depressed nasal bridge, Bifid scrotum, Ambiguous... ORPHA:93328
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of penis, Abnormality of the nares, Bifid scro... ORPHA:1295
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micromelia, Abnorma... ORPHA:1263
Opsismodysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Disproportionate short-limb short stature, Short palm... OMIM:258480
Chops Syndrome
Patent ductus arteriosus, Cryptorchidism, Obesity, Short stature, Hypertelorism, Proptosis, Short... OMIM:616368
Keppen-Lubinsky Syndrome
Flexion contracture, Underdeveloped nasal alae, Generalized lipodystrophy, Microcephaly, Failure ... OMIM:614098
Donnai-Barrow Syndrome
Broad nasal tip, Hypertelorism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus cal... OMIM:222448
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Optic Pathway Glioma
Precocious puberty, Proptosis, Growth delay ORPHA:2086
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal p... ORPHA:90154
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly, Disproportionate short statu... OMIM:210720
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Osteoporosis, Hyperglycemia, ... OMIM:615954
Dwarfism, Familial, With Muscle Spasms
Severe short stature, Short stature, Proptosis, Large beaked nose OMIM:600771
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Flexion contracture, 2-3 toe syn... OMIM:616809
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Aplasia of the left hemidiaphragm, Increased serum... OMIM:618901
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short femoral neck, Short metacarpal, Proximal femoral epiphysiolysis, Microcephaly, Depressed na... OMIM:616723
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Sho... OMIM:601224
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Primary microcephaly, Short stature, Secondary microcephaly, Short nose ORPHA:289266
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Pes planus, Short me... ORPHA:93351
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Abnormal... ORPHA:273
Dyssegmental Dysplasia With Glaucoma
Short stature, Hip contracture, Delayed epiphyseal ossification, Elbow flexion contracture, Propt... OMIM:601561
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Finger syndactyly, Intrauterine growth retardation, Convex nasal ridge, Micrognath... ORPHA:2145
Leukodystrophy, Hypomyelinating, 10
Progressive microcephaly, Bulbous nose, Microcephaly, Arachnodactyly, Failure to thrive, Antevert... OMIM:616420
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Narrow nose, Microcephaly, Inguinal hernia, Short nose, Hypotelorism, Patent duct... OMIM:618454
Meckel Syndrome, Type 8
Depressed nasal ridge, Polydactyly, Microcephaly, Postaxial hand polydactyly, Short nose OMIM:613885
20Q11.2 Microduplication Syndrome
Cryptorchidism, Micropenis, Wide nasal bridge, Growth delay, Severe intrauterine growth retardati... ORPHA:363659
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Coffin-Siris Syndrome 9
Long nose, Clinodactyly, Anteverted nares, Intrauterine growth retardation, Underdeveloped nasal ... OMIM:615866
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
8P23.1 Microdeletion Syndrome
Biparietal narrowing, Broad hallux phalanx, Intrauterine growth retardation, Obesity, Wide nasal ... ORPHA:251071
Diastrophic Dysplasia
Neonatal short-limb short stature, Flattened epiphysis, Irregular epiphyses, Hitchhiker thumb, Sh... OMIM:222600
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Pr... ORPHA:370348
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abno... ORPHA:2631
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micrognath... OMIM:256050
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Polycystic ovaries, Loss of truncal subcutaneous adipose tissue,... OMIM:151660
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Dislocated radial head, Short metacarpa... OMIM:211750
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Sandal gap, Obesity, Micromelia, Arachnodactyly, Genu valgum ORPHA:1035
Acrocraniofacial Dysostosis
Hypotelorism, Craniosynostosis, Short stature, Prominent nasal bridge, Wide nose, Anteverted nare... OMIM:201050
Frontoocular Syndrome
Proptosis, Hypotelorism, Prominent nasal bridge, Coronal craniosynostosis OMIM:605321
Distal Trisomy 18Q
Deviation of finger, Clinodactyly of the 5th finger, Carious teeth, Micrognathia, Choanal atresia... ORPHA:1716
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Marshall-Smith Syndrome
Craniosynostosis, Choanal atresia, Failure to thrive, Reduced bone mineral density, Hypertelorism... ORPHA:561
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Short stature, Spina bifida occulta, Macrocephaly, Anteverted nares, Short nose ORPHA:1185
Holoprosencephaly 9
Abnormal cortical gyration, Single naris, Hypotelorism, Anterior pituitary hypoplasia, Cryptorchi... OMIM:610829
Toluene Embryopathy
Biparietal narrowing, Tapered finger, Micrognathia, Microcephaly, Short stature, Hypoplasia of th... ORPHA:1920
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Pulmonary insufficiency, Small for gestational age,... OMIM:166210
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Sandal gap, Micrognathia, Microcephaly, Short stature, Short nose, Small hand, Retr... OMIM:156200
Autosomal Recessive Omodysplasia
Rhizomelia, Micrognathia, Abnormality of the radius, Abnormality of femur morphology, Short statu... ORPHA:93329
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Severe postnatal growth retardation, Uterus didelphys, Vag... ORPHA:2237
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Coxa valga, Micrognathia, Depressed nasal bridge, Abnormal f... ORPHA:163649