Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
N-terminal Xaa-Pro-Lys N-methyltransferase 1
Synonyms:
Mettl11a,  2610205E22Rik

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 Ntmt1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ntmt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Abnorm... ORPHA:280356
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mell... ORPHA:3085
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Sac... ORPHA:1643
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Fai... ORPHA:100
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... ORPHA:528
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Diabetes mellitus, Hepatic steatosis, Polycystic ovaries OMIM:608709
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Hypertrichosis, Cholestas... OMIM:246200
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... OMIM:604367
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst, Hypoplastic fingernail OMIM:268650
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Pol... OMIM:268020
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries, General... ORPHA:79083
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, Short neck, Truncal obesity, Macroorchidism, Sparse h... ORPHA:284180
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsutism,... ORPHA:2348
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Distal Deletion 10P
Abnormal fingernail morphology, Cryptorchidism, Hypoplastic toenails, Polycystic ovaries, Short n... ORPHA:1580
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:79085
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:264580
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Hirsutism, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
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
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
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... ORPHA:562
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ... ORPHA:275555
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Luscan-Lumish Syndrome
Irregular menstruation, High anterior hairline, Obesity, Hirsutism, Polycystic ovaries OMIM:616831
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Palmoplantar hyperkeratosis, Hyperthyroidi... OMIM:615108
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Palmoplantar hyperkeratosis, H... OMIM:615109
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Kyphosis, Hirsutism ORPHA:85288
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... ORPHA:91
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Palmoplanta... OMIM:158350
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Absent toenail,... OMIM:618658
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Kyphosis ORPHA:1875
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Sparse lateral eyebrow, Abnormal female external geni... OMIM:277000
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Insulin-Resistance Syndrome Type B
Alopecia, Biliary cirrhosis, Abnormal circulating leptin concentration, Insulin-resistant diabete... ORPHA:2298
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Secondary amenorrhea, Premature graying of hair, Splenomegaly, Hepat... ORPHA:280365
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral c... OMIM:301900
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Abnormality of the subungua... ORPHA:335
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Abnormal female ex... ORPHA:95699
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy... OMIM:608594
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy... OMIM:269700
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase co... OMIM:614527
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Gen... ORPHA:79086
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Low posterior hairline, Truncal obesity, Thick hair, Scoliosis, Kyphosis, Synophrys ORPHA:2429
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormal hair pattern, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Abnormal form of the vertebral bodies, Hirsutism, Polycystic ovaries, P... ORPHA:371428
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Decreased serum estradiol,... ORPHA:572333
Short Syndrome
Small for gestational age, Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Cryptorchidism OMIM:618512
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Cryptorchidism, Neonatal death OMIM:618393
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Scoliosis, Failure to thrive OMIM:619518
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hirsutism OMIM:300434
Peutz-Jeghers Syndrome
Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Precocious puberty wi... OMIM:175200
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Cryptorchidism, Vertebral segmentation defect, Low ... ORPHA:2617
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Short neck, Abnormality ... ORPHA:2176
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Bardet-Biedl Syndrome
Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Polycystic ovarie... ORPHA:110
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis, Obesity OMIM:616756
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Orofaciodigital Syndrome I
Sparse hair, Hepatic fibrosis, Alopecia, Dry hair, Hepatic cysts, Ovarian cyst, Pancreatic cysts,... OMIM:311200
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Neonatal death, Short neck, Scoliosis, Kyphosis OMIM:611890
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Vertebral segmentatio... ORPHA:3109
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Failure to thrive, Hepatic steatosis, Polycystic ovaries, In... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis OMIM:618234
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Mcdonough Syndrome
Cryptorchidism, Cachexia, Scoliosis, Kyphosis, Synophrys ORPHA:2471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Zimmermann-Laband Syndrome 2
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Widow'... OMIM:616455
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Patent ductus arteriosus, Splenic cyst, Ovarian cyst OMIM:618188
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Kyphosis, Abnormal testis morphology ORPHA:1548
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity, Scoliosis, Kyphosis OMIM:618124
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Neonatal death OMIM:618237
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Hypogonadism, Low posterior hairline, Short neck, Abnormal hair pattern, Spina bif... ORPHA:2983
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Albinism, Hypopigmentation of hair, Kyphosis ORPHA:2786
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... OMIM:110100
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Kyphosis, Cryptorchidism, Scoliosis, Small for gestational age ORPHA:352490
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Frontal upsweep of hair, Cryptorchidism, Scoliosis, Patent ductus arteriosus OMIM:619797
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr... OMIM:615381
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Cryptorchidism, Kyphoscoliosis, Scoliosis, Small for gestational age OMIM:618484
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Abnormality of the... ORPHA:543
Intellectual Developmental Disorder, Autosomal Dominant 23
Low anterior hairline, Hyperlordosis, Scoliosis, Hypospadias, Kyphosis, Sacral dimple, Synophrys OMIM:615761
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Cryptorchidism, Micropenis, S... OMIM:615547
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Hypertrichosis, Scoliosis, Kyphosis, Synophrys ORPHA:85317
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Synophrys ORPHA:505652
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Scoliosis, Kyphosis ORPHA:48431
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Scoliosis, Hyperparakeratosis ORPHA:276280
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hyperkeratosis, Brittle hair, Sparse hair, Scoliosis, Kyphosis ORPHA:1883
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Abdominal obesity, Micr... OMIM:300354
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Hypertrichosis... ORPHA:324737
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Splenomegaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis OMIM:230650
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis, Small for gestational age OMIM:615834
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Cryptorchidism, Short neck, Uncombable hair, Slow-growing hair, Aplasia... ORPHA:3082
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis, Cryptorchidism ORPHA:178148
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Cryptorchidism, Short neck, Hypoplasia of penis, Kyphosis ORPHA:3409
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Abnormality of the nail, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteric cyst ORPHA:314473
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... ORPHA:398069
15Q24 Microdeletion Syndrome
Hypospadias, High anterior hairline, Kyphosis, Failure to thrive, Microphallus, Decreased respons... ORPHA:94065
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Cholelithiasis, Parathyroid hypoplasia, Obesity,... OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Short nec... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Short nec... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Short nec... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Short nec... ORPHA:99226
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis, Kyphosis OMIM:141300
Fucosidosis
Abnormality of the nail, Failure to thrive, Generalized hyperkeratosis, Abnormality of the gallbl... ORPHA:349
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... ORPHA:2047
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Failure to thrive, Polycystic ovaries ORPHA:137675
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Scoliosis, Kyphosis OMIM:614409
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Obesity, Cryptorchidism, Hepatic steatosis, Generalized hirsutis... ORPHA:254346
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Scoliosis, Kyphosis, Synophrys OMIM:300861
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Palmoplantar keratoderma, Failure to thr... ORPHA:201
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Biliary tract abnormality, Short neck, Scoliosis, Kyphosis ORPHA:3191
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Baralle-Macken Syndrome
Obesity, Kyphosis, Hirsutism OMIM:619255
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, Kyphosis OMIM:615433
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis OMIM:617768
Clark-Baraitser syndrome
Macroorchidism, Obesity, Scoliosis, Kyphosis OMIM:300602
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Hyperkeratosis ORPHA:816
Hypomelanosis Of Ito
Alopecia, Scoliosis, Kyphosis OMIM:300337
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Kyphoscoliosis, Short neck, Hypoplasia of... OMIM:151100
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:300280
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gall... ORPHA:2075
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,... ORPHA:64
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Short neck, Cachexia, Abnormal hair pattern, Hy... ORPHA:85293
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Scoliosis, Kyphosis, Failure to thrive OMIM:248800
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Patent ductus arteriosus, Precocio... ORPHA:904
Alg9-Cdg
Periportal fibrosis, Hypertrichosis, Hepatic cysts, Low posterior hairline, Short neck, Hypoplast... ORPHA:79328
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Alpha-Mannosidosis
Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis ORPHA:61
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Frontal upsweep of hair, Cryptorchidism, Type II diabetes mellit... OMIM:176270
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis OMIM:614898
Becker Nevus Syndrome
Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum morphology, Spina bifida occulta... ORPHA:64755
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Displacement of the urethral me... ORPHA:3378
Ruvalcaba Syndrome
Delayed puberty, Scoliosis, Kyphosis, Cryptorchidism OMIM:180870
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Kyphosis ORPHA:87876
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Obesity, Hypogonadism, Bil... OMIM:209900
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Premat... ORPHA:769
Arthrogryposis, Distal, Type 4
Low anterior hairline, Lumbar scoliosis, Low posterior hairline, Hypoplastic labia majora, Scolio... OMIM:609128
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal form of the vertebral bodies, Abnormal morphology of female internal genita... ORPHA:2311
Leprechaunism
Clitoral hypertrophy, Long penis, Facial hypertrichosis, Failure to thrive, Central hypothyroidis... ORPHA:508
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity, Scoliosis, Kyphosis ORPHA:464282
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Failure to thrive, Hepatosplenomegaly, Abno... ORPHA:354
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Low posterior hairline, Vagi... ORPHA:2916
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Hepatomegaly, Scoliosis, Kyphosis ORPHA:90322
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Biconcave vertebral bodies, Hirsuti... OMIM:219090
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:536516
4Q21 Microdeletion Syndrome
Long eyelashes, Generalized hirsutism, Short neck, Scoliosis, Kyphosis, Synophrys ORPHA:238750
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesit... OMIM:619321
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... ORPHA:2635
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Cryptorchidism, Scoliosis,... ORPHA:628
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Splenomegaly, Short neck, Hepatomegaly, Polycystic kidney dysplasia, Kyphosis OMIM:608776
Trisomy 20P
Platyspondyly, Hypospadias, Highly arched eyebrow, Coarse hair, Abnormal form of the vertebral bo... ORPHA:261318
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Cryptorchidism, Generalized hirsutism, Delayed puberty, ... ORPHA:3121
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Hepatomegaly, Lumbar kyphosis, Short neck, Hyp... OMIM:253000
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Jaberi-Elahi Syndrome
Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair, Scolio... OMIM:617988
Alstrom Syndrome
Irregular menstruation, Alopecia, Elevated circulating hepatic transaminase concentration, Insuli... OMIM:203800
Ullrich Congenital Muscular Dystrophy 1A
Failure to thrive, Slender build, Follicular hyperkeratosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
3M Syndrome
Hypospadias, Increased vertebral height, Thick eyebrow, Decreased fertility, Short neck, Hyperlor... ORPHA:2616
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Failure to thrive, Cryptorchidism, Scoliosis, Kyphosis ORPHA:2115
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Kyphosc... OMIM:618820
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Broad eyebrow, Woolly ha... OMIM:619244
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Thick eyebrow, Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, Kyphosis... OMIM:618443
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervical vertebrae ORPHA:2522
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Alg1-Cdg
Scoliosis, Kyphosis, Decreased liver function ORPHA:79327
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Sialidosis Type 1
Abnormal form of the vertebral bodies, Splenomegaly, Hyperkeratosis, Scoliosis, Kyphosis ORPHA:812
Wieacker-Wolff Syndrome
High anterior hairline, Short neck, Hyperlordosis, Palmar hyperkeratosis, Scoliosis, Kyphosis OMIM:314580
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal hair quantity ORPHA:3098
Schinzel-Giedion Syndrome
Hypospadias, Annular pancreas, Central hypothyroidism, Failure to thrive in infancy, Streak ovary... ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Gm1-Gangliosidosis, Type I
Hypertrichosis, Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodi... OMIM:230500
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sparse eyebrow, Failure to thrive, Fine hair, Supernumerary nipple,... ORPHA:261349
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal toenail morphology, Vertebral segmentation defect, Hyperkeratosis, Sparse hair... ORPHA:1005
Shashi-Pena Syndrome
Highly arched eyebrow, Hypertrichosis, Long eyelashes, Cervical C2/C3 vertebral fusion, Patent du... OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Frontal upsweep of hair, Low anterior hairline, Hirsutism, Patent ductus arteriosu... OMIM:617061
Emanuel Syndrome
Failure to thrive, Cryptorchidism, Patent ductus arteriosus, Micropenis, Scoliosis, Kyphosis, Sac... OMIM:609029
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Overweight, Scoliosis, Kyphosis ORPHA:500055
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Fair hair, Spondylolisthesis, Cryptorchidism, Paten... OMIM:610443
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Cryptorchidism, Micropenis, Scoliosis, Kyphosis ORPHA:364028
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Irregular menstruation, Lumbar hyperlordosis, Neonatal death, Kyphosis, Uterine le... OMIM:616482
Micro Syndrome
Hypoplastic labia minora, Cryptorchidism, Generalized hirsutism, Delayed puberty, Hypoplasia of p... ORPHA:2510
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Kyphosis, Sacral dimple OMIM:618272
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... OMIM:610489
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Scoliosis, Kyphosis ORPHA:404440
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Koolen-De Vries Syndrome
Hypospadias, Cryptorchidism, Vertebral segmentation defect, Hypothyroidism, Abnormality of hair t... ORPHA:96169
Pycnodysostosis
Spondylolysis, Abnormality of the nail, Decreased response to growth hormone stimulation test, He... ORPHA:763
Thanatophoric Dysplasia
Platyspondyly, Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Cohen Syndrome
Failure to thrive in infancy, Obesity, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterio... ORPHA:193
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Long eyelashes, Cryptorchidism, Decreased body weight, Hepatomegaly, Micro... OMIM:619005
Lateral Meningocele Syndrome
Coarse hair, Cryptorchidism, Biconcave vertebral bodies, Short neck, Patent ductus arteriosus, Ve... OMIM:130720
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Vertebral segmentation defect, Patent ductus ar... ORPHA:2745
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Cryptorchidism, Low posterior hairline, Short neck, Hyperl... ORPHA:2789
Noonan Syndrome 14
Sparse eyebrow, Cryptorchidism, Low posterior hairline, Short neck, Curly hair, Sparse hair, Kyph... OMIM:619745
Proteus Syndrome
Abnormality of the nail, Long penis, Thymus hyperplasia, Abnormal form of the vertebral bodies, D... ORPHA:744
Trisomy 9P
Hypoplastic fingernail, Fingernail dysplasia, Hypoplastic toenails, Short neck, Scoliosis, Kyphos... ORPHA:236
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis OMIM:108145
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Micropenis, Scoliosis, Kyphosis OMIM:619951
Hajdu-Cheney Syndrome
Hypospadias, Coarse hair, Failure to thrive, Hypoplastic 5th lumbar vertebrae, Abnormal fingernai... ORPHA:955
Ramon Syndrome
Hypertrichosis, Enlarged labia minora, Decreased body weight, Hyperkeratosis, Scoliosis, Kyphosis OMIM:266270
Distal Triplication 15Q
Scoliosis, Large for gestational age, Patent ductus arteriosus, Hydrocele testis, Polycystic kidn... ORPHA:314588
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Obesity, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98863
Marshall-Smith Syndrome
Atlantoaxial dislocation, Highly arched eyebrow, Hypoplasia of the odontoid process, Failure to t... OMIM:602535
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Butterfly vertebrae, Short neck, Hemivertebrae, Bicornuate uterus, Scoliosis, K... ORPHA:958
Congenital Myopathy 22A, Classic
Neonatal death, Thoracic scoliosis, Synophrys, Scoliosis, Kyphosis, Spinal rigidity OMIM:620351
Hurler-Scheie Syndrome
Splenomegaly, Hirsutism, Hepatomegaly, Scoliosis, Kyphosis OMIM:607015
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Hepatomegaly, Cervical subluxat... OMIM:253010
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Scoliosis, Sparse hair, Hypospadias, Kyphosis OMIM:616449
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98855
Fountain Syndrome
Abnormal form of the vertebral bodies, Thick eyebrow, Spina bifida occulta, Scoliosis, Kyphosis, ... ORPHA:3219
Desbuquois Dysplasia 1
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
3C Syndrome
Hypoplastic fingernail, Short neck, Adrenal hypoplasia, Hemivertebrae, Hypoplasia of penis, Scoli... ORPHA:7
Thanatophoric Dysplasia Type 2
Platyspondyly, Patent ductus arteriosus, Kyphosis ORPHA:93274
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Onychogryposis of fingernail, Ridged fingernail, Hypoplastic fingernail, Hyperconv... ORPHA:2215
Distal 16P11.2 Microdeletion Syndrome
Obesity, Kyphosis, Low anterior hairline ORPHA:261222
Marden-Walker Syndrome
Cryptorchidism, Short neck, Micropenis, Scoliosis, Hypospadias, Kyphosis OMIM:248700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Scoliosis, Hypospadia... OMIM:619718
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Cryptorchidism, Medial flaring of the eyebrow, Scoliosis, Hypospadias, Kyphosis OMIM:617602
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Atypical Rett Syndrome
Scoliosis, Kyphosis ORPHA:3095
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can... ORPHA:15
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98853
Weaver Syndrome
Sparse hair, Fine hair, Cryptorchidism, Patent ductus arteriosus, Thin nail, Deep-set nails, Hydr... OMIM:277590
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Scoliosis, Kyphosis ORPHA:702
Cardiofacioneurodevelopmental Syndrome
Aplasia/Hypoplasia of the nails, Abdominal situs inversus, Cryptorchidism, Asplenia, Kyphosis OMIM:619123
Weismann-Netter Syndrome
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
1P36 Deletion Syndrome
Hypospadias, Annular pancreas, Failure to thrive, Horizontal eyebrow, Spinal canal stenosis, Abno... ORPHA:1606
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Hepatosplenomegaly, Splenomegaly, Short neck, Hepatomegaly, Kyphosis OMIM:309900
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun... OMIM:615512
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Kyphosis, Low anterior hairline OMIM:619909
Fliedner-Zweier Syndrome
Obesity, Scoliosis, Kyphosis, Multicystic kidney dysplasia OMIM:620511
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Cdags Syndrome
Sparse eyebrow, Sparse eyelashes, Rectovaginal fistula, Hypospadias, Kyphosis, Sparse scalp hair OMIM:603116
Mgat2-Cdg
Failure to thrive, Long eyelashes, Hirsutism, Hypoplastic nipples, Patent ductus arteriosus, Abno... ORPHA:79329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Mucopolysaccharidosis Type 6
Failure to thrive, Splenomegaly, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Abnormal hair morphology, Cryptorchidism, Hypopla... ORPHA:251014
Schwartz-Jampel Syndrome
Platyspondyly, Decreased testicular size, Abnormal eyebrow morphology, Long eyelashes in irregula... ORPHA:800
Pelger-Huet Anomaly
Kyphosis, Failure to thrive OMIM:169400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Hurler Syndrome
Hypoplasia of the odontoid process, Hepatosplenomegaly, Splenomegaly, Biconcave vertebral bodies,... OMIM:607014
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hypospadias, Highly arched eyebrow, High anterior hairline, Abnorm... ORPHA:280
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Failure to thrive in infancy, Pheochromocytoma, Th... OMIM:162300
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Cryptorchidism, Abnormal hair pattern, Scoliosis, Kyphosis ORPHA:261250
Cockayne Syndrome A
Irregular menstruation, Dry hair, Failure to thrive, Hypogonadism, Cryptorchidism, Splenomegaly, ... OMIM:216400
Typical Nemaline Myopathy
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Abdominal situs inversus, Hemivertebrae, Abnormal interverte... ORPHA:2062
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Camurati-Engelmann Disease
Abnormality of the vertebral column, Hypogonadism, Slender build, Splenomegaly, Cachexia, Delayed... ORPHA:1328
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Kyphosis OMIM:301041
Cono-Spondylar Dysplasia
Short nail, Failure to thrive, Short neck, Scoliosis, Kyphosis ORPHA:420794
Intellectual Developmental Disorder, X-Linked 112
Pancreatic cysts, Cryptorchidism, Kyphoscoliosis, Renal cyst, Ambiguous genitalia, Scoliosis, Hyp... OMIM:301111
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Sparse eyebrow, Male urethral meatus stenosis, Scoliosis, Hypospadias, Kyphosis, ... ORPHA:464738
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Kyphosis, Failure to thrive, Cryptorchidism, Posterior pituitary hypoplasia, Abnorma... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Kyphosis, Failure to thrive, Breast hypoplasia, Cryptorchidism, Abnormality of the c... ORPHA:464306
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Hypospadias, Alopecia, Small for gestational age, Fair hair, Cervical spinal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Hypospadias, Alopecia, Small for gestational age, Fair hair, Cervical spinal ... ORPHA:363958
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba... ORPHA:508533
Cockayne Syndrome B
Dry hair, Kyphosis, Failure to thrive, Abnormal hair morphology, Cryptorchidism, Splenomegaly, Se... OMIM:133540
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Microphthalmia, Lenz Type
Cryptorchidism, Hyperlordosis, Scoliosis, Hypospadias, Kyphosis ORPHA:568
Somatomammotropinoma
Impotence, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin c... ORPHA:314769
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Posterior scallopi... ORPHA:3042
Robinow Syndrome, Autosomal Dominant 3
Long eyelashes, Cryptorchidism, Short neck, Patent ductus arteriosus, Micropenis, Clitoral hypopl... OMIM:616894
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Low anterior hairline, Hashimoto thyroidit... OMIM:618223
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Cryptorchidism, Kyphoscoliosis, Hemivertebrae, Shawl scrotum, Micropenis, Scoliosis,... OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Toenail dysplasia, Prominent protruding coccyx, Hirsutism, Short neck, Prominent coccyx, Sparse h... OMIM:300966
Acromegaly
Impotence, Long penis, Pituitary prolactin cell adenoma, Anterior hypopituitarism, Pituitary grow... ORPHA:963
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Alexander Disease
Precocious puberty, Failure to thrive, Short neck, Hypothyroidism, Hyperlordosis, Scoliosis, Kyph... ORPHA:58
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Thanatophoric Dysplasia Type 1
Platyspondyly, Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... OMIM:300942
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Cryptorchidism, Thoracic scoliosis, Kyphoscoliosis, Diabetes mellitus, Kyphosis, Sacral... ORPHA:536532
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Rett Syndrome
Cachexia, Scoliosis, Kyphosis OMIM:312750
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Anterior clefting of vertebral bodies, Cryptorchidism, Short neck, Hypoplastic nippl... OMIM:265000
Holt-Oram Syndrome
Patent ductus arteriosus, Scoliosis, Kyphosis ORPHA:392
Campomelic Dysplasia
Short neck, Male pseudohermaphroditism, Ambiguous genitalia, Poorly ossified cervical vertebrae, ... ORPHA:140
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the nail, Alopecia, Abnormality of t... ORPHA:2273
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplastic female external genitalia, Alopecia, Fingernail dysplas... ORPHA:1507
Mucolipidosis Iii Alpha/Beta
Kyphosis, Hepatomegaly, Scoliosis, Spondylolisthesis OMIM:252600
Smith-Lemli-Opitz Syndrome
Hypospadias, Multicystic kidney dysplasia, Clitoral hypertrophy, Abnormal form of the vertebral b... ORPHA:818
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Accessory spleen, Small for gestational age, Highly arched eyebr... OMIM:194190
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis, Failure to thrive, Synophrys ORPHA:476126
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Kyphoscoliosis, Testicular atrop... ORPHA:3063
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Hypoplastic fingernail, Hyperconvex fingernails, Scoliosis... ORPHA:192
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Sparse eyebrow, Thin eyebrow, Hypospadias, Kyphosis OMIM:609944
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Kyphosis, Failure to thrive in infancy, Decreased response to growth hormone stimula... ORPHA:268261
Poland Syndrome
Hypospadias, Abnormality of the liver, Cryptorchidism, Vertebral segmentation defect, Low posteri... ORPHA:2911
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Kyphosis, Failure to thrive, Hirsutism OMIM:617527
Monosomy 9Q22.3
Abnormality of the vertebral column, Large for gestational age, Ovarian fibroma, Short neck, Kyph... ORPHA:77301
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Long eyelashes, Platyspondyly, Kyphosis OMIM:618476
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypoplastic fingernail, Hypogonadism, Hyperconvex fingernails, Externa... ORPHA:2658
Spondyloenchondrodysplasia
Platyspondyly, Hepatitis, Decreased response to growth hormone stimulation test, Hypothyroidism, ... ORPHA:1855
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis, Failure to thrive, Hypertrichosis OMIM:618050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Zttk Syndrome
Sparse eyebrow, Failure to thrive, Absent gallbladder, Broad eyebrow, Patent ductus arteriosus, H... OMIM:617140
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Scoliosis, Kyphosis OMIM:618493
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair, Hepatosplenomegaly, Splenomegaly, Weight loss, Kyphosis ORPHA:576
Intellectual Developmental Disorder, Autosomal Dominant 73
Premature adrenarche, Highly arched eyebrow, Lumbar hyperlordosis, Thick eyebrow, Cryptorchidism,... OMIM:620450
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Scoliosis, Kyphosis ORPHA:2479
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Elevated circulating hepatic transaminase concentration, Failure to thrive, Bifid sc... OMIM:619475
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hirsutism ORPHA:521426
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Mosaic Trisomy 20
Spinal canal stenosis, Cryptorchidism, Vertebral segmentation defect, Vertebral fusion, Scoliosis... ORPHA:1724
Coffin-Siris Syndrome 1
Hypospadias, Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Sparse scalp hair, Hypertrich... OMIM:135900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Slender build, Lumbar hyperlordosis, Large for gestational age, Kyphoscoliosis, B... ORPHA:457359
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Scoliosis, Kyphosis, Spars... ORPHA:394
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis ORPHA:88628
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis ORPHA:88644
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Cockayne Syndrome
Elevated circulating hepatic transaminase concentration, Dry hair, Fine hair, Absence of pubertal... ORPHA:191
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis OMIM:211530
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone con... ORPHA:534
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Multicystic kidney dysplasia, Abnormal form of the verteb... ORPHA:2461
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
High anterior hairline, Supernumerary nipple, Cryptorchidism, Short neck, Scoliosis, Kyphosis OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Cryptorchidism, Kyphoscoliosis, Patent ductus arteriosus, Pineal cyst, Delayed pub... OMIM:300967
Coffin-Lowry Syndrome
Highly arched eyebrow, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Uterine prolapse, Dec... OMIM:303600
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail OMIM:258850
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive OMIM:239000
Cockayne Syndrome Type 3
Elevated circulating hepatic transaminase concentration, Dry hair, Premature graying of hair, Spl... ORPHA:90324
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Kyphosis OMIM:619708
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland, Scoliosis, Kyphosis ORPHA:1969
Occipital Horn Syndrome
Platyspondyly, Coarse hair, Hepatitis, Cholestasis, Thick hair, Jaundice, Scoliosis, Kyphosis ORPHA:198
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis, Synophrys OMIM:619557
Primrose Syndrome
Sparse scalp hair, Kyphosis, Bilateral cryptorchidism, Sparse body hair, Cryptorchidism, Dystroph... OMIM:259050
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Mend Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Sacral dimple ORPHA:401973
Atelis Syndrome 2
Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Paten... OMIM:620185
Mend Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Sacral dimple OMIM:300960
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Large for gestational age, Hyperlordosis, Scoliosis, Kyphosis OMIM:617011
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Thin fingernail, Absent eyebrow, Hypospadias, Kyphosis ORPHA:85199
Lymphedema-Distichiasis Syndrome
Yellow nails, Distichiasis, Kyphosis, Patent ductus arteriosus OMIM:153400
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Hepatomegaly, Macro... OMIM:208400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Highly arched eyebrow, Sparse eyebrow, Lumbar hyperlordosis, Intervertebral space narrowing, Narr... OMIM:143095
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Familial Osteodysplasia, Anderson Type