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Gene: Krt72 MGI:2146034

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Gene Summary

Name:
keratin 72
Synonyms:
K6irs2,  Krt72-ps

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spine curvature Krt72em1(IMPC)Ccpcz HOM Early adult 2.64×10-05
abnormal uterus morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
hydrometra Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal liver morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Krt72em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Krt72em1(IMPC)Ccpcz HOM Early adult 2.05×10-05

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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.

X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Krt72 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 Krt72 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch... OMIM:301900
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second... ORPHA:3085
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Abnormal s... ORPHA:3109
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... OMIM:300510
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, ... ORPHA:2075
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Elevate... OMIM:615381
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Winchester Syndrome
Kyphosis OMIM:277950
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Sialidosis Type 2
Splenomegaly, Kyphosis, Nephropathy, Hepatomegaly ORPHA:87876
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly OMIM:618234
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hydronephrosis, Scoliosis, Cryptorchidism OMIM:619797
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Abnormality of ... OMIM:601076
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Satoyoshi Syndrome
Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism OMIM:180870
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormality of the ureter, Hypogonadism ORPHA:3409
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Type II diabetes mellitus, Scoliosis ORPHA:61
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Delayed puberty, Micropenis, Decreased testi... OMIM:300354
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly,... ORPHA:77259
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... OMIM:617466
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:352490
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Urethral... OMIM:271520
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... OMIM:305400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Oeis Complex
Absence of the sacrum, Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation... OMIM:258040
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
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
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Schaaf-Yang Syndrome
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Trisomy 13
Kyphosis, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Scoliosis, Displacemen... ORPHA:3378
Seckel Syndrome 7
Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism OMIM:614851
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Kyphosis, Increased urinary O-lin... ORPHA:812
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Type II diabetes mellitus, Scoliosis ORPHA:3191
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Scoliosis OMIM:618124
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Alg1-Cdg
Renal insufficiency, Kyphosis, Nephrotic syndrome, Decreased liver function, Scoliosis ORPHA:79327
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ... ORPHA:324737
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Urinary incontinence, Infertility, Scoliosis OMIM:614409
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral b... OMIM:230500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia ORPHA:3344
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Hematuria, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis mor... ORPHA:3121
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis ORPHA:2115
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus, Cryptorchidism OMIM:619123
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... ORPHA:2237
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn... ORPHA:247768
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Fused cervical vertebrae, Aplasia of the uterus, Scoliosis, Thrombocytopenia ORPHA:3320
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Mic... ORPHA:94065
Hurler-Scheie Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret... OMIM:607015
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Scolios... ORPHA:254346
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Micropenis, Scoliosis,... OMIM:619951
Micro Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco... ORPHA:2510
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch... OMIM:614527
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Baralle-Macken Syndrome
Kyphosis, Urinary incontinence OMIM:619255
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Kyphosis, Urinary incontinence, Scoliosis ORPHA:464282
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal hypoplasia, Bicornuat... OMIM:137920
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small scrotum, External genital hypoplasia, Precocious puberty, Kyphosis, Cry... ORPHA:398069
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Mucopolysacchariduria ORPHA:583
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Hydronephrosis ORPHA:364028
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... OMIM:300280
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch... OMIM:615512
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Renal hypoplasia, Scoliosis, Micropenis OMIM:248700
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... OMIM:169400
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion... OMIM:253220
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Scoliosis OMIM:248800
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormality of the ureter, Abnormal form of th... ORPHA:261318
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Anterior beaking o... ORPHA:349
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segmenta... ORPHA:96169
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis, Hydronephrosis ORPHA:568
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hemive... OMIM:301040
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Emanuel Syndrome
Sacral dimple, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Renal hypoplasia, Scoliosis, ... OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Scoliosis OMIM:607155
Hurler Syndrome
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,... OMIM:607014
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:85293
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Horseshoe kidney, Hydrocele testis, Scoliosis, Polycystic ... ORPHA:314588
Meckel Syndrome 14
Short neck, Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genit... OMIM:619879
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... OMIM:300942
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Increased circulating co... OMIM:219080
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... OMIM:601186
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Renal hypoplasia, Bone marrow hypocell... OMIM:614083
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, ... OMIM:212065
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Kyphosis, Splenomegaly, Dermatan su... OMIM:309900
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... OMIM:618280
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:404440
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Micropenis... OMIM:619005
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scolio... ORPHA:7
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Kyphosis, Chronic kidney disease, Proteinuria ORPHA:261222
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Oligomenorrhea, B... OMIM:219090
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Scoliosis, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave ... OMIM:130720
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis ORPHA:500055
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
16Q24.3 Microdeletion Syndrome
Kyphosis, Cryptorchidism, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia ORPHA:261250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis OMIM:618443
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... ORPHA:1855
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Meckel Syndrome 12
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia OMIM:616258
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Urinary incontinence, Scoliosis, Short neck OMIM:301041
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheochromocytoma, Scoliosis, Elevate... OMIM:162300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Irregular menstruation, Uterine leiomyoma, ... OMIM:616482
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Kyphosis, Hydronephrosis, Hypogonadism, Scoli... ORPHA:261349
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Horseshoe kidney, Fused cervic... ORPHA:1724
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,... ORPHA:582
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral col... ORPHA:1328
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Lymphopenia, Short neck OMIM:619745
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia... ORPHA:322
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism OMIM:617602
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Ectopic kidney, Kyphosis, Cryptorchidism, Abnormality of the Leydig ... ORPHA:3063
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... ORPHA:2879
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... ORPHA:744
Poland Syndrome
Diabetes mellitus, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Renal hypopl... ORPHA:2911
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondyloly... OMIM:208400
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Scoliosis ORPHA:457284
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... OMIM:265000
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Vesicoureteral reflux, Hydr... OMIM:610443
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Small scrotum, Scoliosis, Cryptorchidism ORPHA:2215
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Precocious puberty, Kyphosis, Cry... OMIM:194190
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clitoral hypoplasia, Scoliosis, Vesicoureter... OMIM:616894
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Unilateral renal agenesis OMIM:617190
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Renal cyst, Posterior pituitary... ORPHA:464311
Cdags Syndrome
Rectourethral fistula, Kyphosis, Hypospadias, Rectovaginal fistula OMIM:603116
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Pancreatic cysts, Leukocytosis, Horseshoe kidney, Hepatosplen... OMIM:274000
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Cholelithiasis, Hydronephrosis ORPHA:464738
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Kyphosis, Cryptorchidism, ... ORPHA:464306
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Cohen Syndrome
Cryptorchidism, Kyphosis, Neutropenia, Scoliosis, Delayed puberty ORPHA:193
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Urinary incontinence, Scoliosis ORPHA:88644
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Rectovaginal fistula OMIM:619708
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Kyphosis, Cryptorchidism, Abnormality of the... ORPHA:1606
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
2Q31.1 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis, Abnormality of th... ORPHA:251014
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormality ... ORPHA:800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Abnormal fo... ORPHA:280
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, ... ORPHA:955
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Kyphosis, Cryptorchidism, Irregular... OMIM:216400
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Scoliosis, Uretero... ORPHA:2729
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Kyphosis, Cryptorch... ORPHA:1507
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Kyphosis, Cryptorchidism ORPHA:536532
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Cryptorchidism, Kyphosi... OMIM:619194
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypothyroidism, Scoliosis ORPHA:2479
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Alexander Disease
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Scoliosis, Hypothyroi... ORPHA:58
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short neck, Cryptorchidism, Kypho... ORPHA:818
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto... ORPHA:2658
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology... OMIM:236680
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocrine system, ... ORPHA:79329
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,... OMIM:602535
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature... ORPHA:99413
Turner Syndrome
Short neck, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature... ORPHA:881
Mosaic Monosomy X
Short neck, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature... ORPHA:99228
Monosomy X
Short neck, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature... ORPHA:99226
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363958
Coffin-Siris Syndrome 1
Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Cryptorchidism, Renal hypoplas... OMIM:135900
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... ORPHA:273
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Kyphosis, Epis... ORPHA:2461
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Ovarian fibroma, Short neck ORPHA:77301
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
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Cryptorchidism, Azoospe... ORPHA:534
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis OMIM:133540
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insuffi... ORPHA:191
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Urinary incontinence, Scoliosis ORPHA:476126
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Ramon Syndrome
Kyphosis, Enlarged labia minora, Scoliosis OMIM:266270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... OMIM:276820
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Mend Syndrome
Kyphosis, Sacral dimple, Crossed fused renal ectopia, Cryptorchidism OMIM:300960
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... ORPHA:64
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Kyphosis, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Classic Homocystinuria
Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis, Delayed puberty OMIM:300967
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Kyphosis, Cryptorchidism, Bicarbonaturia, Proximal renal ... OMIM:309000
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Mend Syndrome
Kyphosis, Sacral dimple, Cryptorchidism ORPHA:401973
Neurofibromatosis Type 1
Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chronic myelog... ORPHA:636
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Platyspondyly, Scoliosis ORPHA:198
Mucolipidosis Type Ii
Splenomegaly, Kyphosis, Hepatosplenomegaly ORPHA:576
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Short neck, Cr... OMIM:261540
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia OMIM:130050
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Kyphosis, Hemivertebrae, Horseshoe kidne... OMIM:617140
Loeys-Dietz Syndrome
Scoliosis, Uterine rupture ORPHA:60030
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Scoliosis ORPHA:1969
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Nephrocalcinosis, Vertebral segmentat... ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism OMIM:617527
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Elevated hepatic transaminase, Hypospadias, Kyphosis, Jaundice, Abnorma... OMIM:619475
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Scoliosis, Delayed puberty, Erectile dysfunction ORPHA:649
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Occipital Horn Syndrome
Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hydronephrosis OMIM:304150
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Autosomal Recessive Spastic Paraplegia Type 35
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna ORPHA:171629
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Short neck OMIM:256520
Peters Plus Syndrome
Ureteral duplication, Sacral dimple, Multicystic kidney dysplasia, Hypospadias, Short neck, Crypt... ORPHA:709
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Sotos Syndrome
Sacrococcygeal teratoma, Ureteral duplication, Renal insufficiency, Hypospadias, Phimosis, Crypto... ORPHA:821
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Nephrolithiasis, Abnormal form of th... ORPHA:666
Coffin-Lowry Syndrome
Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnorm... ORPHA:2273
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Renovascular hypertension, Glomus jugular tumor, Abnormality of the... ORPHA:97685
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Urinary incontinence, Scoliosis OMIM:619482
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia ORPHA:1393
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Renal cys... OMIM:113620
Pallister-Killian Syndrome
Sacral dimple, Small scrotum, Hypospadias, Supernumerary nipple, Kyphoscoliosis, Short neck, Cryp... OMIM:601803
Wrinkly Skin Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:278250
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Kyphosis, Cryptorchi... OMIM:259050
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis ORPHA:558
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Viss Syndrome
Kyphosis, Hypereosinophilia, Scoliosis, Hypothyroidism, Hydronephrosis, Butterfly vertebrae OMIM:619472
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Kyphosis, Cryptorchidism, H... OMIM:216340

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 Krt72

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 Krt72.

No publications found that use IMPC mice or data for Krt72.

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MGI Allele Allele Type Produced
Krt72em1(IMPC)Ccpcz Exon Deletion Mice

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