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Gene: Ntmt1 MGI:1913867

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Hypopigmentation of hair, Fai... ORPHA:100
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis, Hirsutism, Polycystic ovaries OMIM:608709
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Polycystic o... ORPHA:275555
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea... ORPHA:79084
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hyperkeratosis, Hepa... OMIM:246200
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Hypoplastic fingernail OMIM:268650
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
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Pancreatitis, Ins... ORPHA:79083
Xp22.13P22.2 Duplication Syndrome
Short neck, Polycystic ovaries, Truncal obesity, Sparse hair, Scoliosis, Macroorchidism, High ant... ORPHA:284180
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the t... ORPHA:400
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Distal Deletion 10P
Hypoplasia of penis, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Cryptorchi... ORPHA:1580
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhea, ... ORPHA:2348
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Satoyoshi Syndrome
Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus... ORPHA:3130
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:264580
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cry... ORPHA:110
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
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
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... OMIM:615108
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... OMIM:615109
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, High anterior hairline, Hirsutism OMIM:616831
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... OMIM:158350
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism ORPHA:85288
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Patent ductus arteriosus, Synophrys, Low anterior hairline, Absent toenail,... OMIM:618658
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Abnormality of the subungual region, Splenic rupture, Micropenis, Decre... ORPHA:335
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Microp... OMIM:301900
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Short neck, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of... ORPHA:247768
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal cir... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti... ORPHA:280365
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Hyperconvex nail, Highly arched eyeb... OMIM:614527
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Diabetes m... OMIM:608594
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Decreased ... OMIM:269700
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... ORPHA:79086
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow ORPHA:2429
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Abnormal hair pattern, Polycystic ovaries ORPHA:1770
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Fetal Akinesia Deformation Sequence 4
Neonatal death, Cryptorchidism, Kyphosis, Short neck OMIM:618393
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus, Small for gestational age OMIM:269880
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Abnormal form of the vertebral bodies, Polycystic ovaries, Type I diabetes m... ORPHA:371428
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu... OMIM:175200
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... ORPHA:2617
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency, Scoliosis OMIM:619518
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Scoliosis OMIM:300434
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Infantile Systemic Hyalinosis
Short neck, Polycystic ovaries, Abnormality of the adrenal glands, Failure to thrive, Aplasia/Hyp... ORPHA:2176
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death OMIM:611890
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Peutz-Jeghers Syndrome
Melanonychia, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abn... ORPHA:2869
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Mcdonough Syndrome
Cachexia, Cryptorchidism, Synophrys, Kyphosis, Scoliosis ORPHA:2471
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypothyroidism, Delayed puberty, Irregular menstruation, Hepatoc... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ... OMIM:151660
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Long eyelashes, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia... OMIM:311200
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... OMIM:616455
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Obesity, Scoliosis OMIM:618124
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Patent ductus arteriosus, Hyperparathyroidism, Splenic cyst OMIM:618188
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Patent ductus arteriosus, Kyphosis, Frontal upsweep of hair, Scoliosis OMIM:619797
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Failure to thrive OMIM:618237
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... ORPHA:2983
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis ORPHA:352490
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Scoliosis ORPHA:276280
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis OMIM:618484
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism ORPHA:2786
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Abnormality of ... ORPHA:543
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Abnormal ha... ORPHA:324737
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Scoliosis ORPHA:505652
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Elevate... OMIM:615381
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Hypogonadism, Scoliosis, Micrope... OMIM:615547
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Kyphosis, Hyperkeratosis, Coarse hair, Scoliosis, Sparse hair ORPHA:1883
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis, Delayed puberty ORPHA:2598
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... ORPHA:3082
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Highly arched eyebrow, Kyphosis, Scoliosis, Thick eyebrow OMIM:615834
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Kyphosis, Abdominal obesity, Hypogonadism, Delayed puberty, Micropen... OMIM:300354
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... ORPHA:94065
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... ORPHA:3464
Digeorge Syndrome
Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomeg... OMIM:188400
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail OMIM:313420
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Poliosis OMIM:141300
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... ORPHA:398069
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Ty... ORPHA:2047
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... ORPHA:99413
Turner Syndrome
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... ORPHA:881
Mosaic Monosomy X
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... ORPHA:99228
Monosomy X
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... ORPHA:99226
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism ORPHA:3409
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Renal cyst, Polycystic ovaries ORPHA:137675
19P13.12 Microdeletion Syndrome
Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Synophrys, Hypothyroidism,... ORPHA:254346
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
Fucosidosis
Hepatomegaly, Kyphosis, Hypothyroidism, Abnormality of the gallbladder, Anterior beaking of lumba... ORPHA:349
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, ... ORPHA:2075
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Scoliosis ORPHA:3191
Baralle-Macken Syndrome
Kyphosis, Obesity, Hirsutism OMIM:619255
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to t... OMIM:608776
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Synophrys, Hirsutism, Scoliosis OMIM:300861
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Sjögren-Larsson Syndrome
Hyperkeratosis, Kyphosis, Scoliosis ORPHA:816
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... OMIM:300280
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Leopard Syndrome 1
Hypospadias, Kyphoscoliosis, Short neck, Delayed menarche, Cryptorchidism, Hypoplasia of the ovar... OMIM:151100
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Hypergonadotropic hypogonadism, Scoliosis OMIM:248800
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Multiple renal c... ORPHA:3378
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis ORPHA:61
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Spina... ORPHA:2311
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty OMIM:180870
Alg9-Cdg
Hepatomegaly, Short neck, Low posterior hairline, Periportal fibrosis, Bicornuate uterus, Hypopla... ORPHA:79328
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Williams Syndrome
Hypoplasia of penis, Hypoplastic toenails, Abnormal form of the vertebral bodies, Vertebral segme... ORPHA:904
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Abnormal hair pattern, Short neck, Cachexia, Kyphosis, Synophrys, Obesity, H... ORPHA:85293
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity ORPHA:352447
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis OMIM:614898
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Lumbar scolios... OMIM:609128
Rabson-Mendenhall Syndrome
Enlarged ovaries, Thick hair, Onychauxis, Precocious puberty, Hypothyroidism, Insulin-resistant d... ORPHA:769
Sialidosis Type 2
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Patent ductus arteriosus, Splenomegaly, Abnormal form of the vertebral b... ORPHA:354
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligom... OMIM:219090
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Kyphosis, Obesity, Scoliosis ORPHA:464282
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Diastrophic Dysplasia
Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Abnormality of the ... OMIM:209900
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Ge... ORPHA:3121
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism ORPHA:238750
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive ORPHA:536516
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Short neck, Cryptorchidism, Kyphosis, Low anterio... ORPHA:261318
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive ORPHA:2115
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Hepatic steatosis, Decreased te... OMIM:619321
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... OMIM:619244
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Fail... OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Follicular hyperkeratosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, ... OMIM:618820
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Scoliosis, Th... OMIM:618443
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae ORPHA:2522
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Palmar hyperkeratosis, High anterior hairline OMIM:314580
Sialidosis Type 1
Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hyperkeratosis, Scoliosis ORPHA:812
Alg1-Cdg
Kyphosis, Decreased liver function, Scoliosis ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... OMIM:212065
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis,... ORPHA:798
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Kyphosis, Hyperkeratosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnorm... ORPHA:1005
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Beakin... OMIM:230500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitoral hypoplasia, Sco... ORPHA:2510
Emanuel Syndrome
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Scoliosis, Micropenis, Failure... OMIM:609029
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Slender build ORPHA:364028
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Testicular neoplasm, Cachexia, Enlarged polycystic ovarie... ORPHA:744
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Hypogona... ORPHA:261349
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Long eyelashes, Scoliosis, ... OMIM:617190
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Low anterior hairline, Frontal upsw... OMIM:617061
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia... OMIM:253220
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Abnormality of hai... OMIM:610443
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platyspondyly, Neonata... OMIM:616482
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchid... ORPHA:96169
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, ... ORPHA:193
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly ORPHA:2655
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis, Failure to thrive ORPHA:500055
Pycnodysostosis
Ridged nail, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone s... ORPHA:763
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Widow's p... ORPHA:2745
Noonan Syndrome 14
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ... OMIM:619745
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Low p... ORPHA:2789
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Coarse hair, Sc... OMIM:130720
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Decreas... OMIM:619005
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Kyphosis, Patent ductus arteriosus, Hydro... ORPHA:314588
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... ORPHA:236
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:619951
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Ramon Syndrome
Enlarged labia minora, Kyphosis, Hyperkeratosis, Scoliosis, Decreased body weight, Hypertrichosis OMIM:266270
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis ORPHA:98863
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Kyphosis, Scoliosis, Hirsutism OMIM:607015
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:248700
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98855
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy OMIM:616449
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis... ORPHA:2215
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar ver... ORPHA:955
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scolio... ORPHA:7
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Bilateral cryptorchidism... OMIM:602535
Fountain Syndrome
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... ORPHA:3219
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive OMIM:617602
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis, Neonatal death OMIM:620351
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline, Obesity ORPHA:261222
Thanatophoric Dysplasia Type 2
Kyphosis, Patent ductus arteriosus, Platyspondyly ORPHA:93274
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98853
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Aplasia/Hypoplasia of the nails OMIM:619123
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Truncal obesity, Increas... OMIM:219080
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Fine hair, Hydroce... OMIM:277590
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Kyphosis, Splenomegaly, Cirrhosis, Delayed puberty, Vertebral compre... ORPHA:77259
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Scoliosis ORPHA:261250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,... OMIM:619718
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Failure to thrive ORPHA:583
Triosephosphate Isomerase Deficiency
Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Fai... OMIM:615512
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Decreased body weight, Cachexia, Hype... ORPHA:800
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arte... ORPHA:1606
2Q31.1 Microdeletion Syndrome
Short neck, Hypoplastic toenails, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline, Abn... ORPHA:251014
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectovaginal fistula OMIM:603116
Mgat2-Cdg
Abnormality of the endocrine system, Kyphosis, Patent ductus arteriosus, Long eyelashes, Hypoplas... ORPHA:79329
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circ... OMIM:162300
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnormality of the g... ORPHA:280
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplen... OMIM:607014
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Pelger-Huet Anomaly
Kyphosis, Failure to thrive OMIM:169400
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hepatosplenomegaly, Hypertrichosis OMIM:309900
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus, Low anterior hairline OMIM:619909
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the vertebral colum... ORPHA:1328
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Renal... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Cryptorchidism, Patent duc... ORPHA:464306
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Cockayne Syndrome A
Hepatomegaly, Dry hair, Cryptorchidism, Kyphosis, Splenomegaly, Irregular menstruation, Thymic ho... OMIM:216400
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Clitoral hypoplasi... OMIM:616894
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus stenosis, Scoliosi... ORPHA:464738
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Tes... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Tes... ORPHA:363958
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Cockayne Syndrome B
Hepatomegaly, Dry hair, Small for gestational age, Abnormal hair morphology, Cryptorchidism, Kyph... OMIM:133540
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Scoliosis, Shawl scrotum, M... OMIM:301040
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Elevated circul... ORPHA:314769
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc... OMIM:300966
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Elevated circul... ORPHA:963
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Absence of labia majo... OMIM:265000
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly ORPHA:1860
Alexander Disease
Diabetes mellitus, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis, Failure to... ORPHA:58
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Alopecia, Diabetes mellitus, Kyphoscoliosis, Cryptorchidism, K... ORPHA:536532
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... OMIM:300942
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... ORPHA:69085
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Sacral dimple, Alopecia, Multicystic kidney dysplasia, Short neck, Cryptorch... ORPHA:1507
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Kyphosis,... ORPHA:2273
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Small for gestational age, Highly... OMIM:194190
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Multicystic kidney dysplasia, Short n... ORPHA:818
Holt-Oram Syndrome
Kyphosis, Patent ductus arteriosus, Scoliosis ORPHA:392
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... ORPHA:3042
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Synophrys, Failure to thrive, Scoliosis ORPHA:476126
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Poland Syndrome
Diabetes mellitus, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Low posterio... ORPHA:2911
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Scoliosis, Hypoplastic ... ORPHA:192
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes OMIM:618476
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Kyphosis, Hepatitis, Platyspondyly, Hypoth... ORPHA:1855
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Monosomy 9Q22.3
Ovarian fibroma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral co... ORPHA:77301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Hirsutism, Congenital hypothyroidism OMIM:617527
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Scoliosis, Hypertrichosis OMIM:618050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Sparse eyebrow, Cryptorchidism, Kyphosis, Synophrys, Abnormality of ... ORPHA:3063
Zttk Syndrome
Absent gallbladder, Curly hair, Sparse eyebrow, Kyphosis, Patent ductus arteriosus, Hemivertebrae... OMIM:617140
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Obesity, Scoliosis OMIM:618493
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Coffin-Siris Syndrome 1
Sparse scalp hair, Sacral dimple, Thick eyebrow, Hypospadias, Dry hair, Cryptorchidism, Patent du... OMIM:135900
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypothyroidism, Scoliosis ORPHA:2479
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Broad eyebrow, Elevated hepatic transaminase, Hypospadias, Overweight, ... OMIM:619475
Mucolipidosis Type Ii
Dry hair, Kyphosis, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair, Weight loss ORPHA:576
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Microp... ORPHA:457359
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hirsutism ORPHA:521426
Classic Homocystinuria
Elevated hepatic transaminase, Sparse scalp hair, Hepatomegaly, Kyphosis, Scoliosis ORPHA:394
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Epispadias, Kyphosis, Abnor... ORPHA:2461
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Diabetes mellitus, Cachexia, Cryptorchidis... ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Pineal cyst, Scoliosis, Delay... OMIM:300967
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis, High anterior hairline OMIM:619194
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Cryptorchidism, Kyphosis, Fine hair, Azoospermia, Platysp... ORPHA:534
Coffin-Lowry Syndrome
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... 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
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Rectovaginal fistula OMIM:619708
Mend Syndrome
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis ORPHA:401973
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Cachexia, Scoliosis ORPHA:1969
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte... OMIM:208400
Mend Syndrome
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis OMIM:300960
Occipital Horn Syndrome
Thick hair, Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Coarse hair, Scoliosis ORPHA:198
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Kyphosis, Splenomegaly, Premature graying ... ORPHA:90324
Atelis Syndrome 2
Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo... OMIM:620185
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis OMIM:617011
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Absent eyelashes, Kyphosis ORPHA:85199
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Synophrys, Scoliosis OMIM:619557
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Patent ductus arteriosus, Distichiasis OMIM:153400
Primrose Syndrome
Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Bilater... OMIM:259050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow... OMIM:143095
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Neurofibromatosis Type 1
Abnormal hair quantity, Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of the endocrin... ORPHA:636
Wrinkly Skin Syndrome
Short nail, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair, Failure to thrive, Fragile nails OMIM:278250
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Renal cys... OMIM:113620
Osteogenesis Imperfecta
Small for gestational age, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal ... ORPHA:666
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Coarse hair, Pili torti OMIM:304150
Sotos Syndrome
Sacrococcygeal teratoma, Hypospadias, Phimosis, Cryptorchidism, Patent ductus arteriosus, Kyphosi... ORPHA:821
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive OMIM:309000
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Stickler Syndrome
Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, ... ORPHA:828
Marfan Syndrome
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Sparse e... OMIM:216340
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia ORPHA:1393
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormality of the vertebral column, Pheochro... ORPHA:97685
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Viss Syndrome
Sparse scalp hair, Alopecia, Kyphosis, Patent ductus arteriosus, Scoliosis, Failure to thrive, Hy... OMIM:619472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

Histopathology

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

There is no histopathology data for Ntmt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ntmt1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
NRMT1 knockout mice exhibit phenotypes associated with impaired DNA repair and premature aging. Mechanisms of ageing and development (March 2015) Ntmt1tm1(NCOM)Mfgc PMC4457563

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ntmt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ntmt1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ntmt1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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