Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... |
ORPHA:3085 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... |
ORPHA:1643 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Hypopigmentation of hair, Fai... |
ORPHA:100 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Hepatic steatosis, Hirsutism, Polycystic ovaries |
OMIM:608709 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Polycystic o... |
ORPHA:275555 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hyperkeratosis, Hepa... |
OMIM:246200 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Hypoplastic fingernail |
OMIM:268650 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... |
OMIM:268020 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Pancreatitis, Ins... |
ORPHA:79083 |
Xp22.13P22.2 Duplication Syndrome |
|
Short neck, Polycystic ovaries, Truncal obesity, Sparse hair, Scoliosis, Macroorchidism, High ant... |
ORPHA:284180 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the t... |
ORPHA:400 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Distal Deletion 10P |
|
Hypoplasia of penis, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Cryptorchi... |
ORPHA:1580 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhea, ... |
ORPHA:2348 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Satoyoshi Syndrome |
|
Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus... |
ORPHA:3130 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:264580 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cry... |
ORPHA:110 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:79240 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... |
OMIM:615108 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... |
OMIM:615109 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Obesity, Polycystic ovaries, High anterior hairline, Hirsutism |
OMIM:616831 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cy... |
OMIM:158350 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism |
ORPHA:85288 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Patent ductus arteriosus, Synophrys, Low anterior hairline, Absent toenail,... |
OMIM:618658 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Abnormality of the subungual region, Splenic rupture, Micropenis, Decre... |
ORPHA:335 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Microp... |
OMIM:301900 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Short neck, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of... |
ORPHA:247768 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal cir... |
ORPHA:2298 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti... |
ORPHA:280365 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly |
ORPHA:796 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Hyperconvex nail, Highly arched eyeb... |
OMIM:614527 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Diabetes m... |
OMIM:608594 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Decreased ... |
OMIM:269700 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
ORPHA:79086 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Abnormal hair pattern, Polycystic ovaries |
ORPHA:1770 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice |
OMIM:618512 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus, Small for gestational age |
OMIM:269880 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Abnormal form of the vertebral bodies, Polycystic ovaries, Type I diabetes m... |
ORPHA:371428 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu... |
OMIM:175200 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... |
ORPHA:2617 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Premature ovarian insufficiency, Scoliosis |
OMIM:619518 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Scoliosis |
OMIM:300434 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Infantile Systemic Hyalinosis |
|
Short neck, Polycystic ovaries, Abnormality of the adrenal glands, Failure to thrive, Aplasia/Hyp... |
ORPHA:2176 |
Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death |
OMIM:611890 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abn... |
ORPHA:2869 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Synophrys, Kyphosis, Scoliosis |
ORPHA:2471 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive |
OMIM:618234 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypothyroidism, Delayed puberty, Irregular menstruation, Hepatoc... |
ORPHA:79259 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ... |
OMIM:151660 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Kyphosis, Long eyelashes, Scoliosis, Abnormality of the cervical s... |
ORPHA:48431 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia... |
OMIM:311200 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis |
ORPHA:1548 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... |
OMIM:110100 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... |
OMIM:616455 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Premature ovarian insufficiency, Obesity, Scoliosis |
OMIM:618124 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Patent ductus arteriosus, Hyperparathyroidism, Splenic cyst |
OMIM:618188 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Kyphosis, Frontal upsweep of hair, Scoliosis |
OMIM:619797 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Failure to thrive |
OMIM:618237 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... |
ORPHA:2983 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:352490 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive |
OMIM:620007 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Scoliosis |
ORPHA:276280 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:618484 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Abnormality of ... |
ORPHA:543 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Abnormal ha... |
ORPHA:324737 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Scoliosis |
ORPHA:505652 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Elevate... |
OMIM:615381 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Hypogonadism, Scoliosis, Micrope... |
OMIM:615547 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Kyphosis, Hyperkeratosis, Coarse hair, Scoliosis, Sparse hair |
ORPHA:1883 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Distichiasis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... |
ORPHA:3082 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Highly arched eyebrow, Kyphosis, Scoliosis, Thick eyebrow |
OMIM:615834 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Kyphosis, Abdominal obesity, Hypogonadism, Delayed puberty, Micropen... |
OMIM:300354 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... |
ORPHA:94065 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... |
ORPHA:3464 |
Digeorge Syndrome |
|
Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomeg... |
OMIM:188400 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail |
OMIM:313420 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Patchy alopecia, Poliosis |
OMIM:141300 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... |
ORPHA:398069 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Ty... |
ORPHA:2047 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... |
ORPHA:99413 |
Turner Syndrome |
|
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... |
ORPHA:881 |
Mosaic Monosomy X |
|
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, H... |
ORPHA:99226 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive |
ORPHA:319199 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism |
ORPHA:3409 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Failure to thrive, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Synophrys, Hypothyroidism,... |
ORPHA:254346 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
OMIM:615084 |
Fucosidosis |
|
Hepatomegaly, Kyphosis, Hypothyroidism, Abnormality of the gallbladder, Anterior beaking of lumba... |
ORPHA:349 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Scoliosis |
OMIM:614409 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size |
OMIM:615433 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, ... |
ORPHA:2075 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... |
ORPHA:201 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Scoliosis |
ORPHA:3191 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Hirsutism |
OMIM:619255 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to t... |
OMIM:608776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Synophrys, Hirsutism, Scoliosis |
OMIM:300861 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:300337 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Kyphosis, Scoliosis |
ORPHA:816 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... |
OMIM:300280 |
Kleefstra Syndrome 2 |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
Leopard Syndrome 1 |
|
Hypospadias, Kyphoscoliosis, Short neck, Delayed menarche, Cryptorchidism, Hypoplasia of the ovar... |
OMIM:151100 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Hypergonadotropic hypogonadism, Scoliosis |
OMIM:248800 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Multiple renal c... |
ORPHA:3378 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis |
ORPHA:61 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Spina... |
ORPHA:2311 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty |
OMIM:180870 |
Alg9-Cdg |
|
Hepatomegaly, Short neck, Low posterior hairline, Periportal fibrosis, Bicornuate uterus, Hypopla... |
ORPHA:79328 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Williams Syndrome |
|
Hypoplasia of penis, Hypoplastic toenails, Abnormal form of the vertebral bodies, Vertebral segme... |
ORPHA:904 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Abnormal hair pattern, Short neck, Cachexia, Kyphosis, Synophrys, Obesity, H... |
ORPHA:85293 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
ORPHA:352447 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... |
ORPHA:64755 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Hypertrichosis |
OMIM:614898 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Lumbar scolios... |
OMIM:609128 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Thick hair, Onychauxis, Precocious puberty, Hypothyroidism, Insulin-resistant d... |
ORPHA:769 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Hepatomegaly |
ORPHA:87876 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Kyphosis, Patent ductus arteriosus, Splenomegaly, Abnormal form of the vertebral b... |
ORPHA:354 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligom... |
OMIM:219090 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Kyphosis, Obesity, Scoliosis |
ORPHA:464282 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:2916 |
Diastrophic Dysplasia |
|
Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Abnormality of the ... |
OMIM:209900 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Ge... |
ORPHA:3121 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism |
ORPHA:238750 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Scoliosis, Short neck |
ORPHA:75840 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:536516 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Short neck, Cryptorchidism, Kyphosis, Low anterio... |
ORPHA:261318 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:2115 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Hepatic steatosis, Decreased te... |
OMIM:619321 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... |
OMIM:619244 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism |
ORPHA:90322 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Fail... |
OMIM:617988 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Follicular hyperkeratosis, Scoliosis, Failure to thrive, Slender build |
OMIM:254090 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... |
ORPHA:2616 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, ... |
OMIM:618820 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Scoliosis, Th... |
OMIM:618443 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Palmar hyperkeratosis, High anterior hairline |
OMIM:314580 |
Sialidosis Type 1 |
|
Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hyperkeratosis, Scoliosis |
ORPHA:812 |
Alg1-Cdg |
|
Kyphosis, Decreased liver function, Scoliosis |
ORPHA:79327 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis,... |
ORPHA:798 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Hyperkeratosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnorm... |
ORPHA:1005 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Beakin... |
OMIM:230500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitoral hypoplasia, Sco... |
ORPHA:2510 |
Emanuel Syndrome |
|
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Scoliosis, Micropenis, Failure... |
OMIM:609029 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Slender build |
ORPHA:364028 |
Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Testicular neoplasm, Cachexia, Enlarged polycystic ovarie... |
ORPHA:744 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Hypogona... |
ORPHA:261349 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Long eyelashes, Scoliosis, ... |
OMIM:617190 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Low anterior hairline, Frontal upsw... |
OMIM:617061 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia... |
OMIM:253220 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Abnormality of hai... |
OMIM:610443 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platyspondyly, Neonata... |
OMIM:616482 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis |
ORPHA:404440 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchid... |
ORPHA:96169 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Cohen Syndrome |
|
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, ... |
ORPHA:193 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly |
ORPHA:2655 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis, Failure to thrive |
ORPHA:500055 |
Pycnodysostosis |
|
Ridged nail, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone s... |
ORPHA:763 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Widow's p... |
ORPHA:2745 |
Noonan Syndrome 14 |
|
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ... |
OMIM:619745 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Low p... |
ORPHA:2789 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Coarse hair, Sc... |
OMIM:130720 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Decreas... |
OMIM:619005 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Large for gestational age, Kyphosis, Patent ductus arteriosus, Hydro... |
ORPHA:314588 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... |
ORPHA:236 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:619951 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Ramon Syndrome |
|
Enlarged labia minora, Kyphosis, Hyperkeratosis, Scoliosis, Decreased body weight, Hypertrichosis |
OMIM:266270 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis |
ORPHA:98863 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Kyphosis, Scoliosis, Hirsutism |
OMIM:607015 |
Marden-Walker Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:248700 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... |
ORPHA:958 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98855 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy |
OMIM:616449 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Cryptorchidism, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis... |
ORPHA:2215 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar ver... |
ORPHA:955 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scolio... |
ORPHA:7 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Bilateral cryptorchidism... |
OMIM:602535 |
Fountain Syndrome |
|
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... |
ORPHA:3219 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive |
OMIM:617602 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis, Neonatal death |
OMIM:620351 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline, Obesity |
ORPHA:261222 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Patent ductus arteriosus, Platyspondyly |
ORPHA:93274 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98853 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Aplasia/Hypoplasia of the nails |
OMIM:619123 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis |
ORPHA:702 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Truncal obesity, Increas... |
OMIM:219080 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Fine hair, Hydroce... |
OMIM:277590 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Kyphosis, Splenomegaly, Cirrhosis, Delayed puberty, Vertebral compre... |
ORPHA:77259 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:261250 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,... |
OMIM:619718 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Failure to thrive |
ORPHA:583 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Fai... |
OMIM:615512 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Decreased body weight, Cachexia, Hype... |
ORPHA:800 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arte... |
ORPHA:1606 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Hypoplastic toenails, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline, Abn... |
ORPHA:251014 |
Cdags Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectovaginal fistula |
OMIM:603116 |
Mgat2-Cdg |
|
Abnormality of the endocrine system, Kyphosis, Patent ductus arteriosus, Long eyelashes, Hypoplas... |
ORPHA:79329 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circ... |
OMIM:162300 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Hypospadias, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnormality of the g... |
ORPHA:280 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplen... |
OMIM:607014 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
Pelger-Huet Anomaly |
|
Kyphosis, Failure to thrive |
OMIM:169400 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hepatosplenomegaly, Hypertrichosis |
OMIM:309900 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus, Low anterior hairline |
OMIM:619909 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the vertebral colum... |
ORPHA:1328 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Renal... |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Cryptorchidism, Patent duc... |
ORPHA:464306 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Cryptorchidism, Kyphosis, Splenomegaly, Irregular menstruation, Thymic ho... |
OMIM:216400 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Clitoral hypoplasi... |
OMIM:616894 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus stenosis, Scoliosi... |
ORPHA:464738 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:420794 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Tes... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Tes... |
ORPHA:363958 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Small for gestational age, Abnormal hair morphology, Cryptorchidism, Kyph... |
OMIM:133540 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Scoliosis, Shawl scrotum, M... |
OMIM:301040 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Elevated circul... |
ORPHA:314769 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc... |
OMIM:300966 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal fingernail morphology, Elevated circul... |
ORPHA:963 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Absence of labia majo... |
OMIM:265000 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly |
ORPHA:1860 |
Alexander Disease |
|
Diabetes mellitus, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis, Failure to... |
ORPHA:58 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Alopecia, Diabetes mellitus, Kyphoscoliosis, Cryptorchidism, K... |
ORPHA:536532 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... |
ORPHA:69085 |
Rett Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
OMIM:312750 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Sacral dimple, Alopecia, Multicystic kidney dysplasia, Short neck, Cryptorch... |
ORPHA:1507 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Kyphosis,... |
ORPHA:2273 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Small for gestational age, Highly... |
OMIM:194190 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... |
ORPHA:140 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Multicystic kidney dysplasia, Short n... |
ORPHA:818 |
Holt-Oram Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:392 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... |
ORPHA:3042 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Synophrys, Failure to thrive, Scoliosis |
ORPHA:476126 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Poland Syndrome |
|
Diabetes mellitus, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Low posterio... |
ORPHA:2911 |
Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Scoliosis, Hypoplastic ... |
ORPHA:192 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow |
OMIM:609944 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes |
OMIM:618476 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Kyphosis, Hepatitis, Platyspondyly, Hypoth... |
ORPHA:1855 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral co... |
ORPHA:77301 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Failure to thrive, Hirsutism, Congenital hypothyroidism |
OMIM:617527 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Failure to thrive, Scoliosis, Hypertrichosis |
OMIM:618050 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... |
ORPHA:268261 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Sparse eyebrow, Cryptorchidism, Kyphosis, Synophrys, Abnormality of ... |
ORPHA:3063 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Sparse eyebrow, Kyphosis, Patent ductus arteriosus, Hemivertebrae... |
OMIM:617140 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Obesity, Scoliosis |
OMIM:618493 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Sacral dimple, Thick eyebrow, Hypospadias, Dry hair, Cryptorchidism, Patent du... |
OMIM:135900 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Hypothyroidism, Scoliosis |
ORPHA:2479 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Broad eyebrow, Elevated hepatic transaminase, Hypospadias, Overweight, ... |
OMIM:619475 |
Mucolipidosis Type Ii |
|
Dry hair, Kyphosis, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair, Weight loss |
ORPHA:576 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Microp... |
ORPHA:457359 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Failure to thrive, Hirsutism |
ORPHA:521426 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Sparse scalp hair, Hepatomegaly, Kyphosis, Scoliosis |
ORPHA:394 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Epispadias, Kyphosis, Abnor... |
ORPHA:2461 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Diabetes mellitus, Cachexia, Cryptorchidis... |
ORPHA:191 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Pineal cyst, Scoliosis, Delay... |
OMIM:300967 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis, High anterior hairline |
OMIM:619194 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Cryptorchidism, Kyphosis, Fine hair, Azoospermia, Platysp... |
ORPHA:534 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... |
OMIM:303600 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Hyperconvex nail |
OMIM:258850 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive |
OMIM:239000 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Rectovaginal fistula |
OMIM:619708 |
Mend Syndrome |
|
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis |
ORPHA:401973 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Cachexia, Scoliosis |
ORPHA:1969 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte... |
OMIM:208400 |
Mend Syndrome |
|
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis |
OMIM:300960 |
Occipital Horn Syndrome |
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Thick hair, Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Coarse hair, Scoliosis |
ORPHA:198 |
Cockayne Syndrome Type 3 |
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Elevated hepatic transaminase, Hepatomegaly, Dry hair, Kyphosis, Splenomegaly, Premature graying ... |
ORPHA:90324 |
Atelis Syndrome 2 |
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Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo... |
OMIM:620185 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617011 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Absent eyebrow, Thin fingernail, Hypospadias, Absent eyelashes, Kyphosis |
ORPHA:85199 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Kyphosis, Synophrys, Scoliosis |
OMIM:619557 |
Lymphedema-Distichiasis Syndrome |
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Yellow nails, Kyphosis, Patent ductus arteriosus, Distichiasis |
OMIM:153400 |
Primrose Syndrome |
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Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Bilater... |
OMIM:259050 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow... |
OMIM:143095 |
Osteogenesis Imperfecta, Type Iv |
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Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Neurofibromatosis Type 1 |
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Abnormal hair quantity, Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of the endocrin... |
ORPHA:636 |
Wrinkly Skin Syndrome |
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Short nail, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:278250 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Kyphosis |
OMIM:616914 |
Familial Osteodysplasia, Anderson Type |
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Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Scoliosis |
OMIM:613454 |
Alkaptonuria |
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Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Frank-Ter Haar Syndrome |
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Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Branchiooculofacial Syndrome |
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Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Renal cys... |
OMIM:113620 |
Osteogenesis Imperfecta |
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Small for gestational age, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal ... |
ORPHA:666 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly, Coarse hair, Pili torti |
OMIM:304150 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Hypospadias, Phimosis, Cryptorchidism, Patent ductus arteriosus, Kyphosi... |
ORPHA:821 |
Lowe Oculocerebrorenal Syndrome |
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Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:309000 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Stickler Syndrome |
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Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, ... |
ORPHA:828 |
Marfan Syndrome |
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Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis |
ORPHA:558 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Sparse e... |
OMIM:216340 |
Cleidocranial Dysplasia 1 |
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Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Cerebrocostomandibular Syndrome |
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Kyphosis, Multicystic kidney dysplasia |
ORPHA:1393 |
17Q11 Microdeletion Syndrome |
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Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormality of the vertebral column, Pheochro... |
ORPHA:97685 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis |
ORPHA:171629 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Kyphosis, Patent ductus arteriosus, Scoliosis, Failure to thrive, Hy... |
OMIM:619472 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |