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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
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism ORPHA:397685
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Kyphosis, Hyperlordosis, Hyp... ORPHA:3085
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Sacral dimple, Decreased... ORPHA:1643
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Polycystic ovaries, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic ... ORPHA:2228
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Hypertrichosis, Amenorrhea, Low ante... ORPHA:528
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Preeclampsia
Small for gestational age, Increased body mass index, Polycystic ovaries, Abnormality of the hepa... ORPHA:275555
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Ataxia-Telangiectasia
Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Abnormal testis morphology, Dia... ORPHA:100
Donohue Syndrome
Hypertrichosis, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertr... OMIM:246200
Polycystic Ovary Syndrome 1
Hirsutism, Oligomenorrhea, Amenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ova... OMIM:604367
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... ORPHA:90796
Rudiger Syndrome
Hypoplastic fingernail, Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic ... OMIM:268020
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Alopec... ORPHA:457059
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Hirsutism, Diabetes mellitus OMIM:608709
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, Truncal obesity, High anterior hairline, Short neck, Sparse h... ORPHA:284180
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Oligomenorrhea, Hepatic fibrosis, Hepatocellular car... ORPHA:370
Cystic Echinococcosis
Abnormality of the vertebral column, Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary trac... ORPHA:400
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Hirsutism, Amenorrhea, Polycystic ovaries,... ORPHA:2795
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... ORPHA:243
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Oligomenorrhea, Hepatic fibrosis, Failure to thrive,... ORPHA:264580
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Amenorrhea, Hypoplasia of the ovary, Abnormal... ORPHA:3130
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Hypoplastic toenails, Abnormal fingernail morphology, Short n... ORPHA:1580
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Micropenis, Breast hypoplasia, Hypogonadotropic hypogonadism, Absence of pu... ORPHA:432
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Agonadism, Sparse and thin eyebrow, Primary gonadal insufficiency, Breast hypo... ORPHA:2232
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genitalia, female,... ORPHA:90795
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Kyphosis ORPHA:1875
Bardet-Biedl Syndrome
Hepatic fibrosis, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dysplasia, Short neck... ORPHA:110
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypoplasia of the ovar... OMIM:614841
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hepa... ORPHA:562
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Hepatic fibrosis, Oligomenorrhea, Hepatocellular carcinoma, Polycysti... ORPHA:79240
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... ORPHA:251510
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Luscan-Lumish Syndrome
Hirsutism, Polycystic ovaries, High anterior hairline, Obesity, Irregular menstruation OMIM:616831
Cowden Syndrome 5
Goiter, Kyphosis, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Hyp... OMIM:615108
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Cowden Syndrome 6
Goiter, Kyphosis, Varicocele, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Palmoplantar hyperke... OMIM:615109
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... ORPHA:91
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth h... ORPHA:90301
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hirsutism, Small for gestational age, Kyphosis ORPHA:85288
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Cowden Syndrome 1
Goiter, Kyphosis, Varicocele, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma, Thyroiditis, P... OMIM:158350
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Scoliosis, Premature ovarian insufficiency OMIM:619518
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Hirsutism, Abnormality of... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:280365
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Scheuermann-like vertebral changes, Kyphosis, Micropenis, Cervical sp... OMIM:301900
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hirsuti... ORPHA:247768
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... OMIM:269700
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Aplasia of the uterus, Small nail, Hypertrichosis, Urethral stenosis, Apla... OMIM:614527
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... OMIM:608594
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Abnormality of the subungual region, Micropenis, Decre... ORPHA:335
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Increased circulating go... ORPHA:64739
Sandhoff Disease
Failure to thrive, Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Zimmermann-Laband Syndrome 3
Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey... OMIM:618658
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrhosis, Hepatic steatos... ORPHA:79086
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis, Abnormal hair pattern ORPHA:1770
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Highly arched eyebrow, Oligomenorrhea, Streak ovary... ORPHA:572333
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys ORPHA:2429
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Carney Complex
Oligospermia, Thyroid carcinoma, Hirsutism, Sertoli cell neoplasm, Abnormal morphology of female ... ORPHA:1359
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Hepatic cysts, Alopecia, Polycystic kidney ... OMIM:311200
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis OMIM:618512
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Polycystic ovaries, Nodular goiter, Abnormal form of the vertebral bodies, Premature t... ORPHA:371428
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Hir... ORPHA:314478
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis OMIM:618392
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Abnormal hair quantity, Kyphosis, Low posterior hairline, Cryptorchidism, Vert... ORPHA:2617
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Biliary tract abnormality, Uterine neoplasm, Precocious p... OMIM:175200
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... ORPHA:249
Infantile Systemic Hyalinosis
Failure to thrive, Polycystic ovaries, Abnormality of the adrenal glands, Aplasia/Hypoplasia of t... ORPHA:2176
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... OMIM:110100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Kyphosis, Cryptorchidism, Short neck, Scoliosis OMIM:611890
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis OMIM:618323
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis OMIM:618393
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatos... OMIM:151660
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Scoliosis, Kyphosis OMIM:300434
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis OMIM:300718
Peutz-Jeghers Syndrome
Melanonychia, Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic a... ORPHA:2869
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Failure ... ORPHA:79259
Mcdonough Syndrome
Cachexia, Kyphosis, Cryptorchidism, Scoliosis, Synophrys ORPHA:2471
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Long eyelashes, Abnormality of the cervical spine, Kyphosis, Scoli... ORPHA:48431
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology, Scoliosis, Kyphosis ORPHA:1548
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Small for gestational age, Kyphosis, Thick eyebrow, Scoliosis OMIM:615834
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Platyspondyly, Albinism, Kyphosis ORPHA:2786
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Kyphosis, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Elevated hepatic tran... OMIM:615381
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Scoliosis, Small for gestational age, Kyphosis OMIM:618484
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hyperparakeratosis, Scoliosis, Hydrocele testis ORPHA:276280
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Hypogonadism, Micropenis, Thick eyebrow, Obesity, Cryptor... OMIM:615547
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Small for gestational age, Kyphosis, Cryptorchidism, Scoliosis ORPHA:352490
Widow'S Peak Syndrome
Widow's peak, Cryptorchidism, Shawl scrotum, Kyphosis OMIM:314570
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Hypertrichosis, Synophrys, Scoliosis, Kyphosis ORPHA:85317
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Kyphosis, Hyperkeratosis, Sparse hair, Scoliosis ORPHA:1883
Shashi-Pena Syndrome
Highly arched eyebrow, Scoliosis, Kyphosis OMIM:617190
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the spleen, Abnormality of the ovary, Abnormality of the... ORPHA:543
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Low anterior hairline, Kyphosis, Sacral dimple, Hyperlordosis, Scoliosis, Synophrys OMIM:615761
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Multinodular goiter, Insulin-resistan... OMIM:203800
Srd5A3-Cdg
Hypertrichosis, Abnormal sacrum morphology, Palmoplantar keratoderma, Kyphosis, Hypothyroidism, E... ORPHA:324737
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Hypogonadism, Micropenis, Abdominal obesity, Cryptorchidism, Decreased tes... OMIM:300354
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Mitochondrial Dna Depletion Syndrome 11
Spinal deformities, Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism OMIM:615084
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Hemivertebrae, Small for gestational age, Chordee, Vesicovaginal fist... OMIM:201750
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Scoliosis, Delayed puberty, Kyphosis ORPHA:2598
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Synophrys, Thick eyebrow, Kyphosis OMIM:617061
Disorder Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Abnormal hair pattern, Kyphosis, Hypogonadism, Spina bifida occulta, Low posterior... ORPHA:2983
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Hypoplasia of the fallopian tube, De... ORPHA:3464
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Spondylometaphyseal Dysplasia, X-Linked
Abnormality of the nail, Thoracolumbar scoliosis, Platyspondyly, Kyphosis OMIM:313420
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Kyphosis, Uncombable hair, Cryptorchidism, Slow-growing hair, Aplasia/H... ORPHA:3082
Urban-Rogers-Meyer Syndrome
Kyphosis, Hypogonadism, Short neck, Obesity, Cryptorchidism, Hypoplasia of penis ORPHA:3409
Ck Syndrome
Slender build, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Zimmermann-Laband Syndrome 2
Long eyelashes, Kyphosis, Thick eyebrow, Short neck, Widow's peak, Synophrys OMIM:616455
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Scoliosis, Kyphosis ORPHA:178148
Mental Retardation, Autosomal Dominant 57
Hypertrichosis, Scoliosis, Kyphosis OMIM:618050
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Micropenis, Infertility, Type II diabetes mellitus, Absence of pubertal... ORPHA:398069
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia, Kyphosis OMIM:141300
Prader-Willi Syndrome
Hypoplastic labia minora, Adrenal insufficiency, Decreased response to growth hormone stimulation... OMIM:176270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... OMIM:240300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Scoliosis, Kyphosis OMIM:618443
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... ORPHA:99228
Monosomy X
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... ORPHA:99226
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Alopecia, Primary adrenal insufficiency, Kyphosis, Abnormali... ORPHA:2047
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Scoliosis, Kyphosis OMIM:614409
Leopard Syndrome 1
Hypospadias, Kyphoscoliosis, Hypoplasia of the ovary, Spina bifida occulta, Short neck, Aplasia o... OMIM:151100
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Kyphosis, Obesity, Short neck, Biliary tract abnormality, Scoliosis ORPHA:3191
Ovarian Fibroma
Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteric cyst ORPHA:314473
Cdkl5-Deficiency Disorder
Synophrys, Scoliosis, Kyphosis ORPHA:505652
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Failure to thrive, Pa... ORPHA:201
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Failure to thrive, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Kyphosis, Abnormality of the nai... ORPHA:349
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Abnormality of the gallbladder, Abnormality of mesentery m... ORPHA:2075
Jaberi-Elahi Syndrome
Sparse eyelashes, Failure to thrive, Sparse eyebrow, Kyphosis, Scoliosis OMIM:617988
19P13.12 Microdeletion Syndrome
Hypospadias, Kyphosis, Short neck, Hepatic steatosis, Generalized hirsutism, Scoliosis, Hypothyro... ORPHA:254346
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Short... OMIM:608776
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism ORPHA:352447
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Renal cyst, Kyphosis, Hepatic steatosis, Prema... OMIM:212065
Histiocytoid Cardiomyopathy
Failure to thrive, Hepatomegaly, Polycystic ovaries, Renal cyst ORPHA:137675
Baralle-Macken Syndrome
Obesity, Hirsutism, Kyphosis OMIM:619255
Clark-Baraitser syndrome
Macroorchidism, Scoliosis, Obesity, Kyphosis OMIM:300602
15Q24 Microdeletion Syndrome
Hypospadias, Broad eyebrow, Myelomeningocele, Small for gestational age, Failure to thrive, Kypho... ORPHA:94065
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hirsutism, Hepatic fibrosis, Truncal obesity, Hypogonadism, Vaginal atr... OMIM:209900
Sjögren-Larsson Syndrome
Hyperkeratosis, Scoliosis, Kyphosis ORPHA:816
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis OMIM:230650
Hypomelanosis Of Ito
Alopecia, Scoliosis, Kyphosis OMIM:300337
Alg9-Cdg
Hepatomegaly, Hypoplastic nipples, Hypertrichosis, Hepatic cysts, Hypoplasia of the ovary, Bicorn... ORPHA:79328
Atkin-Flaitz Syndrome
Macroorchidism, Scoliosis, Obesity, Kyphosis OMIM:300431
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Synophrys, Scoliosis, Kyphosis OMIM:300861
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Scoliosis, Hypergonadotropic hypogonadism OMIM:248800
Alström Syndrome
Oligospermia, Hirsutism, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormon... ORPHA:64
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Abnormal hair pattern, Kyphosis, Hypogonadism, Scoliosis, Obesity, Short neck, Hypoplas... ORPHA:85293
Metatropic Dysplasia
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, Sc... OMIM:156530
Alpha-Mannosidosis
Hepatomegaly, Type II diabetes mellitus, Kyphosis, Splenomegaly, Short neck, Scoliosis ORPHA:61
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Kyphosis ORPHA:319199
Williams Syndrome
Abnormal form of the vertebral bodies, Patent ductus arteriosus, Hypoplastic toenails, Abnormal f... ORPHA:904
Ruvalcaba Syndrome
Cryptorchidism, Scoliosis, Delayed puberty, Kyphosis OMIM:180870
Trisomy 13
Abnormal morphology of female internal genitalia, Patent ductus arteriosus, Kyphosis, Displacemen... ORPHA:3378
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hirsutism, Hypertrichosis, Long penis, Low anterior hairline,... ORPHA:769
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Kyphosis ORPHA:1354
Leprechaunism
Hepatomegaly, Central hypothyroidism, Hypertrichosis, Long penis, Failure to thrive, Enlarged ova... ORPHA:508
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Low anterior hairline, Kyphosis, Low posterior hairline, Scoliosis, Lum... OMIM:609128
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Gm1 Gangliosidosis
Hirsutism, Failure to thrive, Weight loss, Abnormal form of the vertebral bodies, Abnormality of ... ORPHA:354
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis OMIM:617768
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Meningocele, Abnormal intervertebral disk morphology, Abnormal morphology of female ... ORPHA:2311
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Kyphosis, Spina bifida occulta, Scoliosis, ... ORPHA:64755
4Q21 Microdeletion Syndrome
Long eyelashes, Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys ORPHA:238750
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... ORPHA:2635
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Scoliosis, Hypo... ORPHA:2916
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Scoliosis, Puberty and gonadal disorders, Kyphosis ORPHA:464282
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of the ovary, Hepatic steatosis, Micropenis, Abdominal obesity, Decreased te... OMIM:619321
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Male hypogonadism, Cryptorchidism, Scoliosis ORPHA:90322
Sialidosis Type 2
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:87876
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Sparse hair, Scoliosis, Kyphosis OMIM:616449
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Kyphosis, Hypoplastic cervical vertebrae, Cryptorchidism, ... ORPHA:628
Trisomy 20P
Hypospadias, Macroorchidism, Highly arched eyebrow, Low anterior hairline, Abnormal form of the v... ORPHA:261318
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Kyphoscoliosis, Kyphosis, Hyperlordosis, Scoliosis ORPHA:536516
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Oligomenorrhea, Hirsutism, Kyphosis, Pituitary adenoma, Vertebral com... OMIM:219090
Ruvalcaba Syndrome
Kyphosis, Generalized hirsutism, Cryptorchidism, Scoliosis, Delayed puberty, Abnormality of verte... ORPHA:3121
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Kyphoscoliosis, Uterus didelphys, Urogenital sinus anomaly, C... OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis OMIM:606612
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Hirsutism, Anterior beaking of lower thoracic vertebrae, Coarse hair, Platyspondyly... OMIM:253220
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Harrod Syndrome
Hypospadias, Failure to thrive, Kyphosis, Multicystic kidney dysplasia, Cryptorchidism, Scoliosis ORPHA:2115
Ullrich Congenital Muscular Dystrophy 1
Failure to thrive, Slender build, Kyphosis, Spinal rigidity, Follicular hyperkeratosis, Scoliosis OMIM:254090
3M Syndrome
Hypospadias, Kyphosis, Thick eyebrow, Hyperlordosis, Short neck, Scoliosis, Increased vertebral h... ORPHA:2616
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Failure to thrive in infancy, Streak ovary, Annular pancreas... ORPHA:798
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis OMIM:618237
Spastic Paraplegia 53, Autosomal Recessive
Hypertrichosis, Kyphosis OMIM:614898
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Scoliosis, Spinal rigidity, Kyphosis ORPHA:75840
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck ORPHA:2522
Gm1-Gangliosidosis, Type I
Hepatomegaly, Hypertrichosis, Beaking of vertebral bodies, Kyphosis, Splenomegaly, Hypoplastic ve... OMIM:230500
Uruguay Faciocardiomusculoskeletal Syndrome
Synophrys, Broad nail, Scoliosis, Kyphosis OMIM:300280
Lateral Meningocele Syndrome
Meningocele, Biconcave vertebral bodies, Vertebral fusion, Coarse hair, Patent ductus arteriosus,... OMIM:130720
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Kyphosis, Abnormal toenail morphology, Scoliosis, Hyperkeratosis, Sparse hair, Vertebra... ORPHA:1005
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Cachexia, Thymus hyperplasia, Diabetes insipidus, Long penis, N... ORPHA:744
Hurler-Scheie Syndrome
Hepatomegaly, Hirsutism, Kyphosis, Splenomegaly, Scoliosis OMIM:607015
Sialidosis Type 1
Abnormal form of the vertebral bodies, Kyphosis, Splenomegaly, Hyperkeratosis, Scoliosis ORPHA:812
Wieacker-Wolff Syndrome
Kyphosis, Hyperlordosis, Palmar hyperkeratosis, High anterior hairline, Short neck, Scoliosis OMIM:314580
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Mend Syndrome
Cryptorchidism, Kyphosis OMIM:300960
2P15P16.1 Microdeletion Syndrome
Fine hair, Failure to thrive, Long eyelashes, Kyphosis, Hypogonadism, Multicystic kidney dysplasi... ORPHA:261349
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Rhizomelic Syndrome, Urbach Type
Short neck, Abnormal form of the vertebral bodies, Abnormal hair quantity, Kyphosis ORPHA:3098
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Patent ductus arteriosus, Kyphosis ORPHA:2655
16P13.2 Microdeletion Syndrome
Failure to thrive, Kyphosis, Hypogonadism, Micropenis, Overweight, Cryptorchidism, Scoliosis ORPHA:500055
Alg1-Cdg
Decreased liver function, Scoliosis, Kyphosis ORPHA:79327
Emanuel Syndrome
Patent ductus arteriosus, Kyphosis, Micropenis, Cryptorchidism, Scoliosis OMIM:609029
Mucolipidosis Iii Gamma
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosi... OMIM:253000
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosi... OMIM:253010
Micro Syndrome
Hypoplastic labia minora, Kyphosis, Generalized hirsutism, Clitoral hypoplasia, Cryptorchidism, H... ORPHA:2510
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Koolen-De Vries Syndrome
Hypospadias, Vertebral fusion, Hypopigmentation of hair, Kyphosis, Abnormality of hair texture, H... ORPHA:96169
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Kyphosis, Micropenis, Cryptorchidism, Scoliosis ORPHA:364028
Pycnodysostosis
Spondylolysis, Decreased serum insulin-like growth factor 1, Ridged nail, Kyphosis, Spondylolisth... ORPHA:763
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Increased intervertebral space, Coro... ORPHA:93314
Trisomy 9P
Fingernail dysplasia, Kyphosis, Sacral dimple, Hypoplastic fingernail, Hypoplastic toenails, Shor... ORPHA:236
Lateral Meningocele Syndrome
Meningocele, Abnormal form of the vertebral bodies, Kyphosis, Short neck, Hyperlordosis, Low post... ORPHA:2789
Koolen-De Vries Syndrome
Vertebral fusion, Small for gestational age, Failure to thrive, Patent ductus arteriosus, Kyphosi... OMIM:610443
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis OMIM:259440
Ramon Syndrome
Enlarged labia minora, Hypertrichosis, Kyphosis, Hyperkeratosis, Decreased body weight, Scoliosis OMIM:266270
Cohen Syndrome
Failure to thrive in infancy, Low anterior hairline, Long eyelashes, Kyphosis, Delayed puberty, T... ORPHA:193
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Low anterior hairline, Kyphosis, Cryptorchidism, Scoliosis ORPHA:404440
Desbuquois Dysplasia 1
Platyspondyly, Kyphosis, Hyperlordosis, Obesity, Short neck, Scoliosis OMIM:251450
3C Syndrome
Hypospadias, Hemivertebrae, Kyphosis, Adrenal hypoplasia, Hypoplastic fingernail, Short neck, Hyp... ORPHA:7
Fountain Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Thick eyebrow, Spina bifida occulta, Scoliosis, ... ORPHA:3219
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Long eyelashes, Kyphosis, Micropenis, Decreased body weight,... OMIM:619005
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Hajdu-Cheney Syndrome
Hypospadias, Hepatomegaly, Biconcave vertebral bodies, Low anterior hairline, Failure to thrive, ... ORPHA:955
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Short neck, Scoliosis ORPHA:98863
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-shaped mound of bone i... OMIM:313400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis ORPHA:98855
Thanatophoric Dysplasia Type 2
Platyspondyly, Patent ductus arteriosus, Kyphosis ORPHA:93274
Marden-Walker Syndrome
Hypospadias, Kyphosis, Micropenis, Cryptorchidism, Short neck, Scoliosis OMIM:248700
Cdags Syndrome
Hypospadias, Sparse eyelashes, Rectovaginal fistula, Sparse scalp hair, Kyphosis, Rectourethral f... OMIM:603116
Distal 16P11.2 Microdeletion Syndrome
Obesity, Low anterior hairline, Kyphosis ORPHA:261222
Atypical Rett Syndrome
Scoliosis, Kyphosis ORPHA:3095
Hurler Syndrome
Biconcave vertebral bodies, Hepatomegaly, C1-C2 subluxation, Hirsutism, Kyphosis, Splenomegaly, H... OMIM:607014
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Hemivertebrae, Uterus didelphys, Kyphosis, Bicornuate uterus, Short neck, Sc... ORPHA:958
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Scoliosis, Cachexia, Kyphosis ORPHA:702
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Patent ductus arteriosus, Bicornuate uterus, Thyrog... ORPHA:2745
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Distal Tetrasomy 15Q
Abnormal external genitalia, Patent ductus arteriosus, Kyphosis, Large for gestational age, Polyc... ORPHA:314588
Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis ORPHA:98853
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Nodular goiter, Kyphosis, Medullary thyroid carcinoma, Thick eyebro... OMIM:162300
Achondroplasia
Spinal canal stenosis, Thoracolumbar kyphosis, Kyphosis, Cervical spinal canal stenosis, Obesity,... ORPHA:15
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia, Aplasia/Hypoplasia of the nails, Kyphosis, Cryptorchidism OMIM:619123
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Gaucher Disease Type 1
Hepatomegaly, Biliary tract obstruction, Splenomegaly, Cirrhosis, Kyphosis, Hypersplenism, Verteb... ORPHA:77259
Weaver Syndrome
Fine hair, Thin nail, Kyphosis, Deep-set nails, Cryptorchidism, Sparse hair, Scoliosis, Hydrocele... OMIM:277590
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Hemivertebrae, Low anterior hairline, Decreased response to growth hormone st... OMIM:618223
Mucopolysaccharidosis Type 6
Failure to thrive, Kyphosis, Ovoid vertebral bodies, Splenomegaly, Short neck ORPHA:583
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Abnormality of the curvature of the vertebral column, Small for gestational age, Kyphoscoliosis, ... ORPHA:93360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Weismann-Netter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Abnormality of the thyroid gland, Kyphosis ORPHA:3344
1P36 Deletion Syndrome
Hypospadias, Abnormality of the spleen, Spinal canal stenosis, Annular pancreas, Failure to thriv... ORPHA:1606
Stickler Syndrome, Type I
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scol... OMIM:108300
Bruck Syndrome 1
Scoliosis, Platyspondyly, Vertebral wedging, Kyphosis OMIM:259450
Mgat2-Cdg
Hirsutism, Hypoplastic nipples, Failure to thrive, Abnormality of the endocrine system, Long eyel... ORPHA:79329
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, Scoliosis ORPHA:261250
Spondyloepiphyseal Dysplasia Congenita
Cervical instability, Platyspondyly, Back pain, Kyphosis, Spinal rigidity, Short neck, Abnormally... ORPHA:94068
Schwartz-Jampel Syndrome
Long eyelashes in irregular rows, Cachexia, Low anterior hairline, Abnormally straight spine, Pla... ORPHA:800
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Platyspondyly, Atlantoaxial instability, Kyphosis, Hypoplasia of the... OMIM:607326
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis ORPHA:171436
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormality of the vertebral column, Highly arched eyebrow, Abdominal situs inversus... ORPHA:280
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies, Short neck, Hypoplasia... OMIM:183900
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Abdominal situs inversus, Abnormal intervertebral disk morph... ORPHA:2062
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis OMIM:607155
Brachyolmia Type 3
Short neck, Scoliosis, Platyspondyly, Kyphosis OMIM:113500
Pelger-Huet Anomaly
Failure to thrive, Kyphosis OMIM:169400
Cockayne Syndrome A
Hepatomegaly, Dry hair, Thymic hormone decreased, Splenomegaly, Hypogonadism, Kyphosis, Micropeni... OMIM:216400
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Hypertrichosis, Kyphosis, Splenomegaly, Short neck OMIM:309900
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Low anterior hairline, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:251014
Triosephosphate Isomerase Deficiency
Cholelithiasis, Kyphosis, Splenomegaly, Cholecystitis, Jaundice OMIM:615512
Somatomammotropinoma
Spinal canal stenosis, Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Synophrys... ORPHA:314769
Camurati-Engelmann Disease
Abnormality of the vertebral column, Hepatomegaly, Cachexia, Slender build, Kyphosis, Hypogonadis... ORPHA:1328
Cono-Spondylar Dysplasia
Short nail, Failure to thrive, Kyphosis, Short neck, Scoliosis ORPHA:420794
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Kyphosis OMIM:301041
Pseudoachondroplasia
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Atlantoaxial dislocation, Hypoplasia of the... OMIM:177170
Acromegaly
Spinal canal stenosis, Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonad... ORPHA:963
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Sparse eyebrow, Cholelithiasis, Kyphosis, Sparse scal... ORPHA:464738
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Small for gestational age, Failure to thrive, Renal cyst, Patent ductus arteriosus, ... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Failure to thrive, Posterior pituitary hypoplasia, Renal ... ORPHA:464311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Increased intervertebral space, Cervical instability, Abnormality of the cervical s... ORPHA:508533
Multiple Pterygium-Malignant Hyperthermia Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Small scrotum, Kyphosis, Hyperconvex fingerna... ORPHA:2215
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Pineal cyst, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Pineal cyst, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:363958
Robinow Syndrome, Autosomal Dominant 3
Long eyelashes, Patent ductus arteriosus, Kyphosis, Short neck, Micropenis, Sacral dimple, Clitor... OMIM:616894
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Abnormal form of the vertebral bodies, Kyphosis, Hypogonadism, Bil... ORPHA:3042
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis ORPHA:2771
Cockayne Syndrome B
Hepatomegaly, Abnormal hair morphology, Dry hair, Small for gestational age, Kyphosis, Splenomega... OMIM:133540
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilat... ORPHA:69085
Campomelic Dysplasia
Kyphosis, Ambiguous genitalia, Male pseudohermaphroditism, Short neck, Scoliosis, Poorly ossified... ORPHA:140
Microphthalmia, Lenz Type
Hypospadias, Kyphosis, Hyperlordosis, Cryptorchidism, Scoliosis ORPHA:568
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Kyphosis, Pituitary adenoma, Hypopituitarism, Eleva... OMIM:300942
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Alopecia, Kyphosis, Sacral dimple, Diabetes mellitus, Thoracic scoliosis, Cryptor... ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hirsutism, Prominent protruding coccyx, Prominent coccyx, Kyphosis, Sacral dimple, Short neck, Sp... OMIM:300966
Rett Syndrome
Cachexia, Scoliosis, Kyphosis OMIM:312750
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis ORPHA:582
Alexander Disease
Failure to thrive, Kyphosis, Hyperlordosis, Scoliosis, Diabetes mellitus, Hypothyroidism, Short n... ORPHA:58
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the vertebral column, Thin fingernail, Abnormal hair morphology, Thin eyebrow, Abn... ORPHA:2273
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Hypoplastic nipples, Anterior clefting of vertebral bodies, Kyphosis, Fused cervical... OMIM:265000
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Patent ductus arteriosus, Kyphosis ORPHA:1860
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Scoliosis, Kyphosis OMIM:259420
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Thoracic kyphosis, Short neck, Hypoplasia o... OMIM:223800
Poland Syndrome
Hypospadias, Hemivertebrae, Kyphosis, Abnormality of the liver, Short neck, Spina bifida occulta,... ORPHA:2911
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Kyphoscoliosis, Sparse eyebrow,... ORPHA:3063
Spondyloenchondrodysplasia
Hepatitis, Platyspondyly, Kyphosis, Hypothyroidism, Decreased response to growth hormone stimulat... ORPHA:1855
Holt-Oram Syndrome
Scoliosis, Patent ductus arteriosus, Kyphosis ORPHA:392
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Synophrys, Scoliosis, Kyphosis ORPHA:476126
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hyperconvex fingernails, Hypoplastic fingernail,... ORPHA:192
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Failure to thrive in infancy, Small for gestational age, Chordee, Posterior pituitar... ORPHA:268261
Wolf-Hirschhorn Syndrome
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Vertebral fusion, Small for gestationa... OMIM:194190
Smith-Lemli-Opitz Syndrome
Hypospadias, Abnormality of the gallbladder, Hypopigmentation of hair, Abnormal form of the verte... ORPHA:818
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261190
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Sparse and thin eyebrow, Trichiasis, Kyphosis OMIM:609944
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis OMIM:603387
Monosomy 9Q22.3
Abnormality of the vertebral column, Large for gestational age, Kyphosis, Ovarian fibroma, Short ... ORPHA:77301
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypothyroidism, Kyphosis ORPHA:2479
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Abnormal penis morphology, External genital hypoplasia, Kyphosis, Hypogonadism, Hype... ORPHA:2658
Zttk Syndrome
Broad eyebrow, Hemivertebrae, Failure to thrive, Sparse eyebrow, Patent ductus arteriosus, Kyphos... OMIM:617140
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Fingernail dysplasia, Alopecia, Long eyelashes, Kyphosis, ... ORPHA:1507
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Non-Specific Syndromic Intellectual Disability
Highly arched eyebrow, Small scrotum, Precocious puberty, Kyphosis, Decreased body weight, Fronta... ORPHA:528084
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Scoliosis, Kyphosis OMIM:618493
Dysostosis, Stanescu Type
Short neck, Scoliosis, Hyperlordosis, Kyphosis ORPHA:1798
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis OMIM:211530
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis OMIM:618476
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism ORPHA:31
Coffin-Lowry Syndrome
Highly arched eyebrow, Abnormal hair morphology, Lumbar kyphosis, Coarse hair, Kyphosis, Uterine ... OMIM:303600
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic ... OMIM:135900
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Primrose Syndrome
Congenital hypothyroidism, Dystrophic fingernails, Irregular vertebral endplates, Truncal obesity... OMIM:259050
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair, Weight loss, Kyphosis, Splenomegaly, Hepatosplenomegaly ORPHA:576
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Hirsutism, Congenital hypothyroidism, Kyphosis OMIM:617527
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Broad eyebrow, Kyphoscoliosis, Slender build, Sparse eyebrow, Large for gestational age, Kyphosis... ORPHA:457359
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis ORPHA:88644
Classic Homocystinuria
Hepatomegaly, Kyphosis, Elevated hepatic transaminase, Sparse scalp hair, Scoliosis ORPHA:394
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral fusion, Kyphosis, Fused cervical vertebrae, Cryptorchidism, Vert... ORPHA:1724
Marden-Walker Syndrome
Hypospadias, Abnormal penis morphology, Failure to thrive, Abnormal form of the vertebral bodies,... ORPHA:2461
Cockayne Syndrome
Fine hair, Hepatomegaly, Cachexia, Dry hair, Absence of pubertal development, Splenomegaly, Kypho... ORPHA:191
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Pineal cyst, Kyphoscoliosis, Slender build, Patent ductus arteriosus, Kyphosis, Cryptorchidism, S... OMIM:300967
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Diabetes insipidus, Azoospermia, Failure to thrive, Platyspondyly, Kyphosis, Hyperpara... ORPHA:534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Abnormality of the curvature of the vertebral column, Broad eyebrow, Bifid scrotum, ... OMIM:619475
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis ORPHA:88628
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:2050
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Hirsutism, Kyphosis ORPHA:521426
Orofaciodigital Syndrome Iii
Hyperconvex nail, Kyphosis OMIM:258850
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Cryptorchidism, High anterior hairline, Short neck, Scoliosis, Supernumerary nipple OMIM:619194
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Abnormality of the thyroid gland, Kyphosis ORPHA:1969
Wrinkly Skin Syndrome
Short nail, Failure to thrive, Kyphosis, Fragile nails, Cryptorchidism, Sparse hair, Scoliosis OMIM:278250
Cockayne Syndrome Type 3
Hepatomegaly, Dry hair, Kyphosis, Splenomegaly, Elevated hepatic transaminase, Scoliosis, Prematu... ORPHA:90324
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Spondylolysis, Beaking of vertebral bodies, Platyspondyly, Kyphosis... OMIM:208400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Highly arched eyebrow, Intervertebral space narrowing, Coronal cleft vertebrae, Irregular vertebr... OMIM:143095
Occipital Horn Syndrome
Hepatitis, Coarse hair, Platyspondyly, Kyphosis, Thick hair, Cholestasis, Scoliosis, Jaundice ORPHA:198
Mend Syndrome
Failure to thrive, Cryptorchidism, Sacral dimple, Kyphosis ORPHA:401973
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Synophrys, Scoliosis, Kyphosis OMIM:619557
Spondyloperipheral Dysplasia
Platyspondyly, Kyphosis OMIM:271700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Thin fingernail, Absent eyebrow, Absent eyelashes, Kyphosis ORPHA:85199
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Kyphosis, Cryptorchidism, Pheochromocyto... ORPHA:636
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:2769
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Sparse eyebrow, Kyphosis OMIM:617011
Osteogenesis Imperfecta, Type Viii
Vertebral compression fracture, Scoliosis, Platyspondyly, Kyphosis OMIM:610915
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Sotos Syndrome
Hypospadias, Small nail, Congenital posterior urethral valve, Abnormal vertebral morphology, Phim... ORPHA:821
Shprintzen Omphalocele Syndrome
Decreased body weight, Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:182210
Marfan Syndrome
Meningocele, Cachexia, Slender build, Kyphosis, Spondylolisthesis, Scoliosis ORPHA:558
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Kyphosis OMIM:249420
Branchiooculofacial Syndrome
Hypospadias, Ectopic thymus tissue, Premature graying of hair, Renal cyst, Kyphosis, Short neck, ... OMIM:113620
Alkaptonuria
Intervertebral disc degeneration, Vertebral fusion, Low back pain, Kyphosis OMIM:203500
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Back pain, Kyphosis OMIM:106300
Osteogenesis Imperfecta
Biconcave vertebral bodies, Small for gestational age, Abnormal form of the vertebral bodies, Kyp... ORPHA:666
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Platyspondyly, Kyphosis, Cryptorchidism, Scoliosis OMIM:309000
Stickler Syndrome
Spinal canal stenosis, Cachexia, Abnormal form of the vertebral bodies, Slender build, Platyspond... ORPHA:828
Occipital Horn Syndrome
Coarse hair, Platyspondyly, Kyphosis OMIM:304150
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Kyphosis ORPHA:1393
Yunis-Varon Syndrome
Hypospadias, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy, Sparse eyela... OMIM:216340
Cleidocranial Dysplasia
Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis OMIM:119600
Pmm2-Cdg
Hepatic fibrosis, Failure to thrive, Hypogonadotropic hypogonadism, Kyphoscoliosis, Platyspondyly... ORPHA:79318
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Elevated circulating parathyroid hormone level, Kyphosis, Be... ORPHA:97685
Viss Syndrome
Butterfly vertebrae, Hirsutism, Failure to thrive, Alopecia, Patent ductus arteriosus, Kyphosis, ... OMIM:619472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Lumbar hype... 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

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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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