Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... |
OMIM:262190 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Deeply set eye, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thriv... |
ORPHA:261483 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Proptosis, Pancreatic islet-cell ... |
OMIM:246200 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad... |
OMIM:300869 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis... |
ORPHA:528 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Deeply set ... |
ORPHA:3044 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... |
OMIM:614841 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... |
ORPHA:99429 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal... |
ORPHA:769 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism, Abse... |
ORPHA:432 |
Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Hypertelorism, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Leprechaunism |
|
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... |
ORPHA:508 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Nail dystrophy, Spa... |
OMIM:618625 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... |
OMIM:604625 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... |
ORPHA:261534 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Carious teeth, Talon ... |
OMIM:613684 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of ... |
ORPHA:2234 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... |
ORPHA:96181 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Thin eyebrow, ... |
ORPHA:3242 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Bent Bone Dysplasia Syndrome 1 |
|
Hypertelorism, Clitoral hypertrophy, Hirsutism, Hepatosplenomegaly |
OMIM:614592 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia, Hypertelorism |
ORPHA:2471 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Deeply set eye, Truncal obesity, Thick eyebrow |
ORPHA:3459 |
Transaldolase Deficiency |
|
Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Synophrys, Hepatospl... |
OMIM:606003 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Submucous cleft sof... |
ORPHA:2751 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small nail, Palmoplantar hyp... |
OMIM:610644 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Deeply set eye, Delayed puberty, Micropenis |
OMIM:301900 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Hypertelorism, Cryptorchidism, Fi... |
ORPHA:85201 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Low anterior hairline, Deeply se... |
OMIM:300882 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow pala... |
ORPHA:166108 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... |
OMIM:300148 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Bardet-Biedl Syndrome 7 |
|
Deeply set eye, Hypogonadism, Obesity, Hypertelorism |
OMIM:615984 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Deeply set eye, Facial hypertrichosis, Failure to th... |
OMIM:600118 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Aica-Ribosiduria |
|
Fused labia minora, Clitoral hypertrophy |
ORPHA:250977 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Deeply set eye, Truncal obesity, Hypogonadism... |
ORPHA:127 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... |
ORPHA:99772 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair |
ORPHA:1264 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypertelor... |
ORPHA:280679 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or ... |
ORPHA:217346 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia, Hyperhidrosis, Fine hair, Long eyelashes, Labial hypopla... |
ORPHA:231137 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Abnormality of the endocrine system, Per... |
OMIM:264600 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Malar flattening, High palate, Bifid uvula, Attention deficit hyperactivity disorder |
OMIM:300850 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Long eyelashes, Failure to thrive |
ORPHA:163693 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply set eye, Incre... |
ORPHA:1227 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
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 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
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 |
Filippi Syndrome |
|
Hypertrichosis, Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Sparse hair, Microdo... |
OMIM:272440 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Hirsutism, Gonadal calcification, Dysgerminoma, ... |
ORPHA:206484 |
Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy |
OMIM:150700 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Highly arched eyebrow, Elevated circulating luteiniz... |
OMIM:618419 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Hypertelorism, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic an... |
ORPHA:2575 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Clitoral hypertrophy, Hypoglycemi... |
OMIM:608688 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Obesity, Low posterior ha... |
ORPHA:2183 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Low posterior hairline, Dee... |
ORPHA:2983 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypertelorism, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas... |
OMIM:214110 |
Seckel Syndrome 9 |
|
Small for gestational age, Agonadism, Ambiguous genitalia, Clitoral hypertrophy, Hypertrichosis |
OMIM:616777 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate,... |
OMIM:617412 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... |
ORPHA:347 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl... |
OMIM:211380 |
Megalencephaly |
|
Macroorchidism, Deeply set eye, Long penis, Truncal obesity |
ORPHA:2477 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hypertelorism, Cryptorchidism, Obesity, Deeply set eye, Sparse hair, M... |
OMIM:619185 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... |
ORPHA:110 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Hypoglycemia, Adrenal hypopl... |
ORPHA:95496 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Seckel Syndrome 5 |
|
Cryptorchidism, Hypospadias, Clitoral hypertrophy |
OMIM:613823 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Hypoplastic ... |
OMIM:613803 |
Pierpont Syndrome |
|
Hypertelorism, Cryptorchidism, Micropenis, Deeply set eye, Decreased body weight, High anterior h... |
OMIM:602342 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decrea... |
OMIM:269700 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Deeply set eye, Patchy alopecia, Decreased testicular size, Cryptorchidism |
ORPHA:85279 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... |
ORPHA:99330 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Chung-Jansen Syndrome |
|
Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Thick eyebrow |
OMIM:617991 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Weight loss, Anemia |
ORPHA:83469 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Aplasia/H... |
ORPHA:2930 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hypertelorism, Sparse hair, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age, External genital hypoplasia, Hyperhidrosis |
ORPHA:231147 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Small for gestational age, Deeply set eye, Sparse hair, Micropenis |
OMIM:610756 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Abnormal external genitalia, Hypoglycemia, Hyperhidrosis, Decreased bo... |
ORPHA:231140 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Diabetes mellitus, Acute pancreatitis, Decreased serum leptin, Decreased fe... |
OMIM:608594 |
Gand Syndrome |
|
Sparse hair, Deeply set eye, Hypertelorism |
OMIM:615074 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Pierpont Syndrome |
|
Small for gestational age, Hypertelorism, Cryptorchidism, Deeply set eye, High anterior hairline |
ORPHA:487825 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Failure... |
ORPHA:912 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes... |
OMIM:612292 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... |
ORPHA:317 |
Perlman Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Deeply set eye |
ORPHA:2849 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Deeply set eye, Failure to thrive, Hypospadias |
OMIM:300934 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
O'Donnell-Luria-Rodan Syndrome |
|
Deeply set eye, Cryptorchidism |
OMIM:618512 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrodontia, Long phil... |
OMIM:615502 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... |
ORPHA:237 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Thick eyebrow |
ORPHA:2429 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia, Hypertri... |
OMIM:201550 |
Forsythe-Wakeling Syndrome |
|
Deeply set eye, Nephrotic syndrome, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... |
ORPHA:2298 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hypertelorism, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low poste... |
OMIM:300860 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... |
OMIM:609757 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Hypertelorism, Large for gesta... |
OMIM:619075 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Aredyld Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes mel... |
ORPHA:1133 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... |
ORPHA:2118 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism |
OMIM:618681 |
Alazami Syndrome |
|
Deeply set eye, Retractile testis, Decreased body weight |
OMIM:615071 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hypertelorism, Hirsutism, Hepatosplenomegaly, Clitoral hypertrophy |
ORPHA:313855 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... |
ORPHA:324575 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Deeply set eye, Micropenis, Failure to thrive, D... |
ORPHA:370079 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Clitoral hypertrophy, Failure to thrive, Thin eyebrow |
ORPHA:2707 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Deeply set eye, Hypospadias, Hypotelorism |
ORPHA:276422 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Meier-Gorlin Syndrome 2 |
|
Hypoplastic labia majora, Labial hypoplasia, Failure to thrive, Breast hypoplasia, Clitoral hyper... |
OMIM:613800 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia, Anemia |
OMIM:610090 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... |
ORPHA:2047 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Hypertelorism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:8 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Hypertelorism, Deeply set eye, Adrenal insufficiency, Hydronephrosis |
ORPHA:251076 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemia, Cryptorchidism... |
ORPHA:397590 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Cryptorchidism, Renal hypoplasia, Fine hair, Hypotelorism, Recurrent h... |
OMIM:616817 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Synophrys, Horseshoe kidney, Deeply set eye, Long eyelashes, Thin eyebrow, Hypopl... |
ORPHA:502434 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Obesity, Tapered finger |
OMIM:309585 |
Fanconi Anemia, Complementation Group S |
|
Hypertelorism, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse... |
OMIM:617883 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Seckel Syndrome 1 |
|
Cryptorchidism, Pancytopenia, Hypospadias, Clitoral hypertrophy |
OMIM:210600 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low anterior hairline, ... |
ORPHA:1787 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate, Extension of hair growth on temples to lateral eyebrow |
ORPHA:1241 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Insulin resistance,... |
OMIM:616541 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Displacement of the urethral meatus |
ORPHA:2301 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
OMIM:606072 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Synophrys, Deeply set eye, Gonadal... |
ORPHA:3306 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... |
OMIM:300953 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia |
ORPHA:298 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
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 1 |
|
Female infertility |
OMIM:615774 |
Developmental And Epileptic Encephalopathy 89 |
|
Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Hypoplastic labia minora, Hypoplastic labia... |
OMIM:619124 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Deeply set eye, High anterior hairline |
OMIM:301024 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Frontal balding, Early balding, Deeply set eye, Truncal obesity, Hyp... |
ORPHA:3041 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Hemifacial Atrophy, Progressive |
|
Deeply set eye, Patchy alopecia, Poliosis |
OMIM:141300 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... |
ORPHA:2850 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Adrenal hypoplasia, Hypertelorism, Cryptorchidism, Aminoaciduria, Albuminuria, Failu... |
OMIM:214100 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... |
OMIM:614564 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Hypog... |
ORPHA:79237 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Cryptorchidism, Stage 5 chronic kidney di... |
OMIM:617575 |
Weaver Syndrome |
|
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypertelorism, Hy... |
ORPHA:3447 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... |
OMIM:268020 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Roberts Syndrome |
|
Clitoral hypertrophy, Hypertelorism, Cryptorchidism, Long penis, Proptosis, Polycystic kidney dys... |
ORPHA:3103 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Hypertelorism, Splenomegaly, Cryptorchidism, Renal cyst, ... |
OMIM:614866 |
Smith-Kingsmore Syndrome |
|
Curly hair, Hypoglycemia, Large for gestational age, Hypertelorism, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism, Deeply set eye, Failure to thrive, Hypertelorism |
ORPHA:2053 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hyperhidrosis, Hypogona... |
ORPHA:85293 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Cryptorchidism, Proptosis, Breast aplasia, Thin eyebrow, Decreas... |
OMIM:617063 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Supernumerary nipple, Cryptorchidism, Deeply set eye, Thin eyebrow |
OMIM:617635 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Hypertelorism, Cryptorchidism, Abnormal hair whorl, Sparse hair, Micropenis |
ORPHA:2872 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st... |
ORPHA:3464 |
Rhyns Syndrome |
|
Deeply set eye, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypertelorism, Sparse eyebrow, Hypoplastic labia majora, Sparse hair, Failure to thrive, Clitoral... |
OMIM:244450 |
14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Sparse lateral eyebrow, Highly arched eyebrow, Hypertelorism |
ORPHA:261120 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Mirage Syndrome |
|
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Hypoglyce... |
OMIM:617053 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Deeply set eye, Nephrotic syn... |
OMIM:619428 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly |
OMIM:300577 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Synophrys, Talon cusp, Deep philtrum, Cleft palate, Microdontia |
OMIM:605282 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Hypotelori... |
ORPHA:250999 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Long eyelashes, Hypogonadotropic hypogonadism, Hypoglycemia |
ORPHA:48431 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Type I diabetes mellitus, Sparse hair, Anterior hypopituitarism, Sparse body hair, ... |
ORPHA:181 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Low anterior hairline, Deeply set eye, Micropenis, Decreased testi... |
OMIM:615663 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... |
ORPHA:2221 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplastic labia minora, Hypoplast... |
ORPHA:2554 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A... |
OMIM:268305 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Hypertelorism, Polycystic ovaries, Truncal obesity, Sparse hair, High anterior ha... |
ORPHA:284180 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... |
OMIM:620107 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... |
OMIM:618165 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Urinary retention, Prostate ... |
ORPHA:2126 |
Tetrasomy 12P |
|
Cachexia, Hypertelorism, Sparse eyebrow, Hypohidrosis, Sparse hair |
ORPHA:884 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Highly arched eyebrow, Hypertelorism, Synophrys, Deeply set eye, Thick eyebrow |
OMIM:615979 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Hypertelorism, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, U... |
OMIM:618820 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus |
ORPHA:1979 |
C Syndrome |
|
Cryptorchidism, Clitoral hypertrophy, Failure to thrive, Renal cortical cysts |
OMIM:211750 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... |
OMIM:241080 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, High anterior hairline, Notched primary central incisor |
OMIM:620062 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... |
ORPHA:90790 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Deeply set eye, Obesity |
OMIM:619058 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Insulin resistance, Deeply set eye, Failure to thrive,... |
OMIM:214150 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Deeply set eye, Failure to t... |
OMIM:608154 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Hypoplasti... |
OMIM:224690 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome |
OMIM:201910 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Abnormality of hair texture, Hypertelorism, Widow's peak, Low posterior hairline, Sh... |
ORPHA:1520 |
Christianson Syndrome |
|
Deeply set eye, Cachexia, Thick eyebrow |
ORPHA:85278 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... |
ORPHA:247768 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Low posterior hairline, Downturned corners of mouth, Wide ... |
OMIM:618779 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infancy, Fine hair, De... |
OMIM:618891 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Deeply set eye, Micropenis, Unilateral renal agenesis, Cryptorchidism |
OMIM:618504 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Neutropenia, Sparse hair |
OMIM:618253 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Deeply set eye, Truncal obesity |
OMIM:300471 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Hypertelorism, Concave nail, Cryptorchidism, Hypotelorism, Fine hair, Small nail, Mi... |
OMIM:300978 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Small for gestational age, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Ov... |
OMIM:617796 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Cdkl5-Deficiency Disorder |
|
Deeply set eye, Synophrys |
ORPHA:505652 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... |
ORPHA:276608 |
Shox-Related Short Stature |
|
Obesity, Tibial bowing, Skeletal muscle hypertrophy, Short foot, Genu valgum, Forearm undergrowth... |
ORPHA:314795 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Deeply set eye, Decreased urinary s... |
OMIM:272300 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Failure to thrive, Hypoglycemia |
OMIM:618958 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obe... |
ORPHA:633 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Silent Sinus Syndrome |
|
Deeply set eye |
ORPHA:71276 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Hypertelorism, Pancreat... |
OMIM:617052 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Hypertelorism, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Ren... |
ORPHA:464288 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Short philtrum, Widely spa... |
OMIM:619841 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Small for ges... |
OMIM:180860 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Small for gestational age, Hypertelorism, Oligozoospermia, Deeply set eye, Cli... |
OMIM:614813 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... |
OMIM:300707 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith... |
OMIM:606407 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... |
ORPHA:276580 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Wolman Disease |
|
Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Anemia |
ORPHA:75233 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
1p36 microdeletion syndrome |
|
Deeply set eye |
DECIPHER:18 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... |
ORPHA:73272 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Deeply set eye, Aplasia/Hypoplasia of the eyebrow, Hypertelorism |
ORPHA:261304 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Horseshoe kidney, Deep... |
OMIM:613680 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Abnormal mandible morpho... |
ORPHA:3201 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Hypertelorism, Cryptorchidism, Fine hair, Aplastic/hyp... |
ORPHA:1812 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Deeply set eye, High anterior hairline |
OMIM:618859 |
Desanto-Shinawi Syndrome |
|
Hypertelorism, Synophrys, Hirsutism, Deeply set eye, Thick eyebrow |
OMIM:616708 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Hypotelorism, U... |
ORPHA:3082 |
2q37 monosomy |
|
Deeply set eye |
DECIPHER:44 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set eye, Proptosis, Micropenis |
OMIM:619435 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Clinodactyly of the 5th toe |
ORPHA:99976 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Hypertelorism, Cryptorchidism, Low p... |
OMIM:613224 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypoglycemia, Synophrys, Low anterior hairline, Fin... |
ORPHA:391408 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Everted lower lip v... |
OMIM:618067 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of the dentition, Supernumerary tooth... |
ORPHA:77258 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Hypertelorism, Cryptorchidism, Fine hair, Hypogonadism |
ORPHA:228390 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... |
ORPHA:1882 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Deeply set eye |
OMIM:614113 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Periventricular Nodular Heterotopia 7 |
|
Hypertelorism, Cryptorchidism, Deeply set eye, Proptosis, Failure to thrive |
OMIM:617201 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema |
OMIM:302350 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Deeply set eye, Hypertelorism |
OMIM:614257 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Muscular dystrophy, Distal... |
ORPHA:459033 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
20Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Hypertelorism |
ORPHA:444051 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... |
OMIM:110100 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Fasti... |
ORPHA:276575 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1071 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Hypotelorism, Deeply set ... |
ORPHA:3378 |
Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence,... |
OMIM:235200 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Hyp... |
OMIM:618316 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... |
ORPHA:3051 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Hypertelorism, Cryptorchidism, Synophrys, Low posterior hairline, Interhypo... |
OMIM:618929 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Hematuria, Sparse hair, Abnormal morphology of female internal genitalia |
ORPHA:1839 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Deeply set eye, Oligomenorrhea |
OMIM:620393 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Deeply set eye, Slender build |
OMIM:300699 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Deeply set eye, Synophrys |
OMIM:615541 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Large for gestational age, Hypertelorism, Cryptorchidism, Neonatal hypog... |
ORPHA:457485 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Low anterior hairline, Hypoplastic labia majora, Deeply set eye, M... |
OMIM:614225 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Pre... |
ORPHA:69087 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Deeply set eye, Recurrent hypoglycemia |
OMIM:618158 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal... |
ORPHA:79644 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi... |
ORPHA:35878 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... |
OMIM:620114 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... |
OMIM:190351 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, N... |
OMIM:234050 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Microcytic anemia, Hepatosplenomegaly, Deeply set eye, Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Fraser Syndrome 1 |
|
Absent eyebrow, Hypospadias, Hypertelorism, Absent eyelashes, Cryptorchidism, Extension of hair g... |
OMIM:219000 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thick hair, Synophrys, Deeply set eye, Long eyelashes, Horizontal eyebrow, Thick eyebrow, Hypertr... |
OMIM:618381 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria |
ORPHA:1933 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Deeply set eye, Patchy alopecia, Decreased body weight, Cholelithiasis, Micropeni... |
OMIM:300534 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypertelorism, Hypoplastic toenail... |
ORPHA:544488 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Hypertelorism, Long eyebrows, Precocious puberty, Synophrys... |
OMIM:619312 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Short philtrum, Thick... |
ORPHA:364028 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Hypertelorism, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Hypertelorism, Cryptorchidism, Low posterior hairline, Coarse hair, Hypoplastic fi... |
ORPHA:1912 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Clitoral hypertrophy, Hypertelorism, Ectop... |
OMIM:135900 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Deeply set eye, Fine hair, Hypospadias, Hypertelorism |
ORPHA:363686 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Failure to thrive, Hypospadias, Abnormal eyelash morphology, Epispadia... |
ORPHA:2556 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Alexander Disease Type I |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Deeply set eye, Synophrys, Lymphopenia, Premature ovarian insufficiency |
ORPHA:391307 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Hypertelorism, Insulin resistance, Weight loss, Deeply set eye, Spar... |
ORPHA:3163 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, D... |
ORPHA:502 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Hypertelorism, Ectopic kidney, Abnormality of the spleen, Synophrys, Renal hyp... |
ORPHA:94063 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hyperte... |
ORPHA:818 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Deeply set eye, Hirsutism, Hypertelorism |
OMIM:618087 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Deeply set eye, Hypospadias |
ORPHA:544254 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, A... |
ORPHA:37042 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... |
ORPHA:2985 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Alopecia, Diabetes mellitus, Hypospadias, Abnormal hair pattern, Failure to ... |
ORPHA:2315 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial hypoplasia, Vesi... |
ORPHA:140952 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati... |
ORPHA:264580 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o... |
ORPHA:438216 |
Spinocerebellar Ataxia 48 |
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Urinary incontinence, Cachexia |
OMIM:618093 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Sparse eyelashes, Hypospadias, Hypertelorism, Sparse eyebrow, Cryptorchidism, ... |
ORPHA:3472 |
Trichodermodysplasia-Dental Alterations Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Leukocytosis, Renal hypoplasia, Deeply set eye, Abdominal obesity, Hypoplasia of the ov... |
OMIM:619321 |
Intellectual Developmental Disorder, X-Linked 97 |
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Obesity |
OMIM:300803 |
Chromosome 17Q12 Duplication Syndrome |
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Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Noonan Syndrome 9 |
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Curly hair, Hydroureter, Hypertelorism, Sparse eyebrow, Cryptorchidism |
OMIM:616559 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia |
OMIM:610706 |
Johanson-Blizzard Syndrome |
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Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ... |
OMIM:243800 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age |
OMIM:256450 |
Hemifacial Hyperplasia With Strabismus |
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Submucous cleft hard palate |
OMIM:141350 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Alaninuria, Hypoglycemia |
OMIM:615158 |
Cardiofaciocutaneous Syndrome 2 |
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Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
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Sparse eyebrow, Deeply set eye, Thick eyebrow |
OMIM:617268 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... |
ORPHA:199299 |
Alport Syndrome |
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Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ... |
ORPHA:63 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Small for gestational age, Cryptorchidism, Hypospadias, Anemia |
OMIM:620135 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, Deeply set eye, B lymphocytopenia, Micropenis, Abnormal natural killer cell mo... |
OMIM:615966 |
X-Linked Acrogigantism |
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Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Whipple Disease |
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Cachexia, Splenomegaly, Insulin resistance, Proptosis, Erectile dysfunction, Hypothyroidism, Anemia |
ORPHA:3452 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... |
OMIM:222300 |
Pili Torti-Onychodysplasia Syndrome |
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Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Microduplication Xp11.22P11.23 Syndrome |
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Toe syndactyly, Obesity |
ORPHA:217377 |
Trichothiodystrophy 3, Photosensitive |
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Failure to thrive, Brittle hair, Bilateral cryptorchidism, Hypotelorism, Neutropenia, Tiger tail ... |
OMIM:616395 |
Basilicata-Akhtar Syndrome |
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Precocious puberty, Deeply set eye, Neonatal hypoglycemia |
OMIM:301032 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Premature ovarian insufficiency, Hypospadias, Endometriosis, Unilateral renal agenesis, Horseshoe... |
ORPHA:363444 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
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Synophrys, Obesity, Deeply set eye, Long eyelashes, Thick eyebrow |
ORPHA:480907 |
2Q32Q33 Microdeletion Syndrome |
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Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Trichohepatoenteric Syndrome 2 |
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Brittle hair, Small for gestational age, Hypertelorism, Uncombable hair, Sparse hair, Woolly hair... |
OMIM:614602 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
Bardet-Biedl Syndrome 22 |
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Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age |
OMIM:617119 |
Bloom Syndrome |
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Malar flattening, Agenesis of maxillary lateral incisor, Hypertrichosis |
OMIM:210900 |
Naxos Disease |
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Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Small scrotum, Cryptorchidism, Hypotelorism, Deeply set eye, Microphallus, Micropenis |
OMIM:300486 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Prolactinoma |
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Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Summitt Syndrome |
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Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... |
ORPHA:3210 |
Galloway-Mowat Syndrome 5 |
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Proteinuria, Hypertelorism, Stage 5 chronic kidney disease, Deeply set eye, Focal segmental glome... |
OMIM:617731 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Type I diabetes mellitus, Lymp... |
OMIM:620365 |
Acute Adrenal Insufficiency |
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Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Decreased female li... |
ORPHA:95409 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
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Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
Immunodeficiency, Common Variable, 10 |
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Trachyonychia, Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation t... |
OMIM:615577 |
Horner Syndrome, Congenital |
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Deeply set eye |
OMIM:143000 |
Insulin-Like Growth Factor I, Resistance To |
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Sparse scalp hair, Diabetes mellitus, Highly arched eyebrow, Synophrys, Increased circulating ins... |
OMIM:270450 |
Johnson Neuroectodermal Syndrome |
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Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Hypogonadism, Sparse hair, Failure to t... |
ORPHA:2316 |
Oculofaciocardiodental Syndrome |
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Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
Short Syndrome |
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Small for gestational age, Insulin-resistant diabetes mellitus, Insulin resistance, Deeply set ey... |
OMIM:269880 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Alopecia, Small scrotum, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic ... |
ORPHA:3253 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Cachexia |
ORPHA:157973 |
Schimke Immunoosseous Dysplasia |
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Pancytopenia, Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidi... |
OMIM:242900 |
Majeed Syndrome |
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Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytos... |
ORPHA:77297 |
Auriculocondylar Syndrome 3 |
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Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Hypertelorism, Cryptorchidism, Fine hair, Deeply set eye, Sparse hair |
OMIM:614438 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Cryptorchidism, Deeply set eye, 3-Methylglutaconic aciduria, Delayed puberty |
ORPHA:496790 |
Craniosynostosis 2 |
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Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Trichothiodystrophy 8, Nonphotosensitive |
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Sparse eyebrow, Hypotelorism, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
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Deeply set eye, Hypertelorism, Low posterior hairline, Hypotelorism |
OMIM:618672 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Urinary incontinence, Hypertelorism, Puberty and gonadal disorders, Obesity, Deeply set eye |
ORPHA:464282 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Skeletal muscle hypertrophy, Irregular femoral epiphysis, Firm muscles, Genu valgum |
OMIM:255710 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Genitopatellar Syndrome |
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Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchi... |
OMIM:606170 |
Stormorken-Sjaastad-Langslet Syndrome |
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Asplenia, Deeply set eye, Anemia |
ORPHA:3204 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Odontoonychodermal Dysplasia |
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Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Fine hair,... |
OMIM:257980 |
Dilated Cardiomyopathy With Ataxia |
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Hypoplasia of penis, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hypospadia... |
ORPHA:66634 |
D-Glyceric Aciduria |
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Hypoglycemia, Deeply set eye, Aminoaciduria, Micropenis, Failure to thrive |
OMIM:220120 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... |
ORPHA:370010 |
Hypotrichosis 13 |
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Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc... |
OMIM:615234 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Cachexia |
ORPHA:42 |
20P13 Microdeletion Syndrome |
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Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Synophrys, Deeply set eye, Sm... |
ORPHA:313781 |
Robinow Syndrome, Autosomal Recessive 2 |
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Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long eyelashe... |
OMIM:618529 |
Noonan Syndrome 5 |
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Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Large for gestational age, Fine hair, ... |
OMIM:611553 |
Macrocephaly/Autism Syndrome |
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Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Coarse hair... |
OMIM:605309 |
Blue Diaper Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
Bainbridge-Ropers Syndrome |
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Thick eyebrow, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Precocious puberty, Sy... |
OMIM:615485 |
Hypotrichosis And Recurrent Skin Vesicles |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Heyn-Sproul-Jackson Syndrome |
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Sparse hair |
OMIM:618724 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Alopecia, Severe B lymphocytopenia, Decreased circulating cortisol level, Alopecia totalis, Decre... |
ORPHA:293978 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Failure... |
OMIM:619151 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
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Sparse hair, Deeply set eye, Patchy alopecia, Hypothyroidism |
OMIM:617763 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
X-Linked Intellectual Disability, Schimke Type |
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Vesicoureteral reflux, Deeply set eye, Failure to thrive in infancy, Hydronephrosis |
ORPHA:85285 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair |
ORPHA:69735 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Smith-Magenis Syndrome |
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Failure to thrive in infancy, Hypertelorism, Precocious puberty, Synophrys, Abnormality of the ur... |
ORPHA:819 |
Progressive Hemifacial Atrophy |
|
Deeply set eye |
ORPHA:1214 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Deeply set eye, Synophrys, Long eyelashes, Failure to thrive in infancy |
OMIM:619064 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Deeply set eye, Highly arched eyebrow |
OMIM:611867 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Hypertelorism, Sparse eyebrow, Deeply... |
OMIM:618829 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Deeply set eye, Long eyelashes, Vesicour... |
OMIM:618828 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Head-banging, Wide... |
OMIM:619103 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema |
OMIM:619718 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Pancreat... |
OMIM:619386 |
Barth Syndrome |
|
Failure to thrive, Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic ... |
OMIM:302060 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Proteinuria, Hypoglycemia, Delayed puberty |
ORPHA:369 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair, Hypertelorism |
ORPHA:3068 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Noonan Syndrome 8 |
|
Curly hair, Large for gestational age, Hypertelorism, Cryptorchidism, Failure to thrive |
OMIM:615355 |
Transaldolase Deficiency |
|
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Micrognathia |
ORPHA:166016 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Schilbach-Rott Syndrome |
|
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... |
OMIM:164220 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proptosis, Proteinuria, Cachexia |
ORPHA:2774 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Blepharocheilodontic Syndrome 1 |
|
Hypertelorism, Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair, Hypertelorism |
ORPHA:2324 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Deeply set eye, Truncal obesity |
ORPHA:85280 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary nipple, Micrognathia, Widow's peak, Submucous cleft hard palate, Unilateral cleft l... |
OMIM:619122 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow, Hypertelorism |
OMIM:619989 |
Kury-Isidor Syndrome |
|
Deeply set eye, Alopecia, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples,... |
ORPHA:3134 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fing... |
ORPHA:1775 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Urethral stenosis, F... |
OMIM:613990 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hypogonadism, Sparse hair, Decreased body weight |
OMIM:616200 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Deeply set eye |
ORPHA:137831 |
Trisomy 18 |
|
Cachexia, Hypertelorism, Cryptorchidism, Cyclopia, Abnormal morphology of female internal genital... |
ORPHA:3380 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Hypertelorism, Synophrys, Hypotelorism, Sparse hair, Thick eyebrow |
OMIM:611091 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Hypotelorism, Deeply set eye, Aminoaciduria, Neutropenia, Thr... |
OMIM:603585 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Hydrocele testis, Deeply set eye, Low posterior hairline, Hypertelorism |
OMIM:619493 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Ethylmalonic aciduria, Ketotic hypoglycemia, Increased level of methylsuccinic... |
ORPHA:26792 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Anemia |
OMIM:618838 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Propto... |
ORPHA:370348 |
Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Splenomegaly, Hypogonadism, Anemia |
OMIM:613313 |
Glycogen Storage Disease Iii |
|
Deeply set eye, Hypoglycemia |
OMIM:232400 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Deeply set eye |
OMIM:612138 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture |
OMIM:601003 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... |
OMIM:615631 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Deeply set eye, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:447896 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Fragile nails, Hypogonadism, N... |
OMIM:601675 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Renal hypoplasia, Coarse hair, Pos... |
ORPHA:75389 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... |
ORPHA:2905 |
6P22 Microdeletion Syndrome |
|
Deeply set eye, Hydronephrosis, Hypotelorism |
ORPHA:251046 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Deeply set eye, Highly arched eyebrow |
ORPHA:457365 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Ketotic hypoglycemia, Splenomegaly, Irregular menstruation, Increased body weight, ... |
ORPHA:79240 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... |
ORPHA:97289 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow |
ORPHA:436174 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Hypertelorism, Cryptorchidism, Long penis, ... |
OMIM:268300 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hypertelorism, Cryptorchidism, Hypotelorism, Sparse hair, Failure to thrive |
OMIM:219150 |
Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... |
ORPHA:2189 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Natal tooth, Hyperactivity, Sparse eyelashes, Selective tooth agenesis, Microg... |
OMIM:234100 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypotelorism, Deeply set eye... |
OMIM:612530 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea |
OMIM:604250 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Chopra-Amiel-Gordon Syndrome |
|
Deeply set eye, High anterior hairline, Unilateral renal agenesis |
OMIM:619504 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Vaginal dryness, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent ey... |
OMIM:106260 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Hypertelorism |
ORPHA:1438 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Nail dystrophy, Thrombocytopenia |
OMIM:613987 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Deeply set eye, Aminoaciduria |
ORPHA:833 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Deeply set eye, Synophrys, Increased body weight |
OMIM:182290 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Small for gestational age, Hypoglycemia, Cryptorchidism, Micropenis, ... |
OMIM:607143 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia, Cryptorchidism, Low anterior hairline, Deeply set eye, Micropenis |
OMIM:620224 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Cryptorchidism, Fine hair, Deeply set eye, Sparse hair, Micropenis, ... |
ORPHA:251028 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Deeply set eye, Failure to thrive |
OMIM:617228 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Anemia, N... |
OMIM:606054 |
Noonan Syndrome 4 |
|
Curly hair, Ureteral duplication, Hypertelorism, Sparse eyebrow, Cryptorchidism, Large for gestat... |
OMIM:610733 |
Chromosome 2Q37 Deletion Syndrome |
|
Deeply set eye, Hypothyroidism, Obesity, Highly arched eyebrow |
OMIM:600430 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Spa... |
OMIM:613026 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Deeply set eye, Abnormality of globe location |
ORPHA:576283 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Hypohidrosis, Nail dystrophy, Increased B cell count, Sparse hair, Hypopi... |
ORPHA:98813 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria |
ORPHA:289504 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Deeply set eye, Highly arched eyebrow, Decreased body weight |
OMIM:618342 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, R... |
ORPHA:263455 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Deeply set eye, Long eyelashes, Obesity, Hypertelorism |
OMIM:618089 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hydronephrosis |
OMIM:618494 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Increased urine succinate level, Hypoglycemia |
OMIM:619048 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the... |
ORPHA:178303 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... |
ORPHA:617 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic ki... |
OMIM:608612 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Smooth philtrum, Hyperactivity, Rectal prolapse, Gingival overgrowth, ... |
OMIM:235510 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Scarring alopecia of scalp, Sp... |
ORPHA:59303 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Renal phosphate wasting, Ovarian cyst, Increased circulating... |
ORPHA:562 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Nephronophthisis 15 |
|
Polydactyly, Obesity |
OMIM:614845 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, Highly arched ... |
ORPHA:2162 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Retrognathia,... |
ORPHA:314621 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Hypertelorism, Bilateral cryptorchidism... |
OMIM:613457 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Low posterior hairline, ... |
ORPHA:163654 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h... |
OMIM:619004 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hypogonadism, Infert... |
ORPHA:96170 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hypertelorism, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Spar... |
OMIM:620075 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neuromuscular dysphagia, Dystonia, Macrodontia of permanent maxillary centra... |
ORPHA:466722 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Micropenis, Failure ... |
OMIM:609029 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Deeply set eye |
OMIM:614254 |
5Q14.3 Microdeletion Syndrome |
|
Deeply set eye, Thick eyebrow |
ORPHA:228384 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Highly arched eyebrow, Autoimmune thrombocytopenia, Deeply set eye... |
OMIM:301069 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Deeply set eye, Congenital hypoparathyro... |
ORPHA:2323 |
Recon Progeroid Syndrome |
|
Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Deeply set eye, Thrombocytopenia |
OMIM:620370 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Nizon-Isidor Syndrome |
|
Sparse eyebrow, Deeply set eye, Hypospadias, Hypertelorism |
OMIM:618872 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M... |
OMIM:261540 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Highly arched eyebrow, Hypertelorism, Unilateral renal agenesis, Synophrys, Proptos... |
OMIM:617190 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Deeply set eye, Failure to thrive |
OMIM:617602 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Deeply set eye, Obesity |
ORPHA:521390 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Alopecia, Dry hair, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Ca... |
OMIM:311200 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Hypertelorism, Microcytic anemia, Sparse eyebrow, Cryptorch... |
OMIM:611174 |
Developmental And Epileptic Encephalopathy 64 |
|
Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Deeply set eye, Long eyelashes, Thi... |
OMIM:618004 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Delayed eru... |
OMIM:268400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis,... |
ORPHA:109 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Hypotelorism |
ORPHA:1515 |
Chops Syndrome |
|
Curly hair, Thick hair, Hypertelorism, Splenomegaly, Synophrys, Cryptorchidism, Obesity, Horsesho... |
OMIM:616368 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypertelorism, Freckled genitalia, Anemia |
ORPHA:79076 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Hypospadias, Small for gestational age, Increased mean platelet volume,... |
OMIM:222470 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Micropenis, Brittle hair, Sparse eyebrow |
OMIM:618810 |
Pontocerebellar Hypoplasia, Type 6 |
|
Deeply set eye, Failure to thrive |
OMIM:611523 |
Desbuquois Syndrome |
|
Sparse hair, Proptosis, Abnormal eyelash morphology |
ORPHA:1425 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Low anterior hairline, Low posterior hairline, Perineal hypospadia... |
OMIM:312830 |
Shukla-Vernon Syndrome |
|
Sparse hair, Hypertelorism |
OMIM:301029 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dilated thi... |
OMIM:619244 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Alagille Syndrome |
|
Hypertelorism, Cryptorchidism, Abnormality of the ureter, Deeply set eye, Nephrotic syndrome, Del... |
ORPHA:52 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Hypohidrosis, Deeply set eye, Male hypogonadism... |
ORPHA:90321 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia |
ORPHA:100024 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpus... |
ORPHA:300298 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss |
ORPHA:54251 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Diabetes insipidus, Hypertelorism, Deeply set eye, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, Deeply set eye |
ORPHA:251071 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Nephrocalcinosis, Neutropenia, Failure to thrive, Hypothyroidism, Hirsutism |
OMIM:618005 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Deeply set eye, Failure to thrive, Diabetes mellitus, Small for gestational age |
OMIM:620194 |
Marshall Syndrome |
|
Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierr... |
OMIM:154780 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Hypotelorism, Anemia, Deeply set eye, Hematuria, Hypoplastic splee... |
OMIM:185070 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Pancytopenia, Failure to thrive, Hypospadias, Cryptorchidism, Premature graying of ha... |
OMIM:620331 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Small for gestational age, Hypertelorism, Cryptorchidism, Penoscrotal... |
OMIM:619148 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft... |
OMIM:619680 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Urinary incontinence, Hypertelorism, Sparse eyebrow, Synophrys, Deeply set eye, Retractile testis |
OMIM:617193 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonat... |
OMIM:619046 |
Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... |
OMIM:263400 |
Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Cryptorchidism... |
ORPHA:3132 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypotelorism, D... |
OMIM:614114 |
Noonan Syndrome 14 |
|
Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis,... |
OMIM:619745 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Abnormality of hair texture, Aggressive behavior, Synophrys, Hypoplast... |
ORPHA:73223 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia |
OMIM:614741 |
17Q12 Microduplication Syndrome |
|
Deeply set eye, Synophrys |
ORPHA:261272 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Cachexia, Hypertel... |
ORPHA:800 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Hypertelorism, Absent eyelashes, Sparse eyebrow, Cryptor... |
OMIM:608156 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities |
OMIM:255700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Amenorrhea, Weight loss, Infertil... |
ORPHA:465508 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypotelorism, Sex reversal, Deepl... |
OMIM:612651 |
Pitt-Hopkins Syndrome |
|
Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Deeply set eye, Frontal upsweep of hair, ... |
OMIM:610954 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Synophr... |
OMIM:614701 |
Cockayne Syndrome |
|
Anhidrosis, Dry hair, Diabetes mellitus, Neurogenic bladder, Urinary incontinence, Unilateral ren... |
ORPHA:191 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy... |
OMIM:143880 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Microsporidiosis |
|
Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Prostatitis, Urethriti... |
ORPHA:2552 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Hepatos... |
ORPHA:85450 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Deeply set eye, Horseshoe kidney |
OMIM:617598 |
Tenorio Syndrome |
|
Hypoglycemia, Enuresis, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Deeply set eye |
OMIM:616809 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Renal hypoplasia, Sparse hair |
OMIM:616854 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive ... |
OMIM:304790 |
Camurati-Engelmann Disease |
|
Cachexia, Splenomegaly, Leukopenia, Proptosis, Hypogonadism, Urinary retention, Delayed puberty, ... |
ORPHA:1328 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Trichiasis, Sparse eyebrow, Deeply set eye, Thin eyebrow |
OMIM:609944 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Cryptorchidism, Renal ... |
OMIM:618454 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Deeply set eye, Small for gestational age, Failure to thrive in infancy, Hypotelorism |
OMIM:614104 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Hypertelorism |
OMIM:601163 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Anemia |
OMIM:618835 |
Macs Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Decr... |
OMIM:613075 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Micrognathi... |
ORPHA:2108 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Anemia |
OMIM:618839 |
Luo-Schoch-Yamamoto Syndrome |
|
Highly arched eyebrow, Hypertelorism, Deeply set eye, Long eyelashes, Failure to thrive |
OMIM:619460 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Urolithiasis, Hypote... |
OMIM:300661 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Multicystic kidney dysplasia, Thrombocytopenia |
OMIM:619980 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... |
OMIM:619950 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Cleft hard palate, Cleft lip, Cleft palate, Bilateral br... |
ORPHA:69085 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Cervix cancer, Deeply set eye, Pilomatrixoma, Multinodular goiter |
OMIM:620189 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Mal... |
ORPHA:86818 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Deeply set eye, Fail... |
OMIM:610965 |
Ssr4-Cdg |
|
Deeply set eye, Failure to thrive, Horseshoe kidney |
ORPHA:370927 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism, Deeply set eye, Hypotelorism |
OMIM:602471 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary nipple, Highly arched eyebrow, Spa... |
ORPHA:1001 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:488632 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Deeply set eye, Horizontal eyebrow, Vesicoureteral reflux, High anterior h... |
OMIM:618797 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Branchiogenic-Deafness Syndrome |
|
Trismus, Submucous cleft hard palate |
OMIM:609166 |
Chromosome 5P13 Duplication Syndrome |
|
Hypertelorism, Vesicoureteral reflux, Low posterior hairline, Hypotelorism, Proptosis, Sparse hair |
OMIM:613174 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Hypertelorism, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Deeply set eye, Hypertelorism, Hypotelorism |
OMIM:613604 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... |
ORPHA:848 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Hypertrichosis, Tracheoesophageal fistula, Low p... |
OMIM:619227 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... |
OMIM:251000 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Anemia, Retr... |
ORPHA:230 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia |
OMIM:606851 |
Cerebellofaciodental Syndrome |
|
Aggressive behavior, Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of ... |
OMIM:616202 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive, Hypogonadism, Abnormality of hair texture, Megaloblastic anemia |
ORPHA:79351 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Sparse eyebrow, Deeply set eye, Sparse eyelashes, Urinary incontinence |
OMIM:620070 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypertelorism, Methylmalonic aciduria, Elevated urinary a... |
OMIM:614105 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... |
ORPHA:96169 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Deeply set eye, Breast aplasia, Hypertelorism |
OMIM:612242 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Nail dysplasia, Polycystic kidney dysplasia... |
OMIM:614091 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Chronic neutropenia, Hypoglycemia, Irregular menstruation, Thyroiditis, Stage 5 chro... |
ORPHA:79259 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic... |
ORPHA:90024 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Hypertelorism, Sparse eyebrow, Bilateral cryptorchidism, Fine... |
OMIM:613451 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Anemia, 3-Methylgluta... |
OMIM:246450 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypoglycemia, H... |
OMIM:307030 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Hirsutism |
OMIM:616078 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia |
ORPHA:2158 |
Cousin Syndrome |
|
Hypertelorism, Ambiguous genitalia, female, Low anterior hairline, Deeply set eye, Ambiguous geni... |
OMIM:260660 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Renal arter... |
ORPHA:71273 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Postaxial polydactyly |
OMIM:615985 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... |
ORPHA:647 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Synophrys, Deeply set eye, High anterior hai... |
OMIM:620098 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:620357 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Small f... |
ORPHA:464306 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Deeply set eye, Hypertelorism |
OMIM:613443 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ... |
ORPHA:2710 |
Cockayne Syndrome A |
|
Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Irregular m... |
OMIM:216400 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Hypertelorism, Sparse anterior scalp hair, Cryptorchidism... |
ORPHA:96121 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Deeply set eye |
OMIM:617915 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... |
OMIM:127550 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Hypertelorism, Cryptorchidism, Micropenis, Hypoplasia of ... |
OMIM:151100 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Pelviscapular Dysplasia |
|
Deeply set eye, Low posterior hairline, Hypertelorism |
ORPHA:93333 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Obesity |
ORPHA:141333 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Alopecia, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Op... |
ORPHA:1507 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Arthrogryposis, Distal, Type 2A |
|
Deeply set eye, Failure to thrive, Small for gestational age, Cryptorchidism |
OMIM:193700 |
Arthrogryposis, Distal, Type 3 |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Failure to thrive |
OMIM:245400 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Small for gestational age, Abnormal hair ... |
OMIM:133540 |
Faundes-Banka Syndrome |
|
Sparse scalp hair, Premature thelarche, Hypertelorism, Hypoplastic toenails, Cryptorchidism, Deep... |
OMIM:619376 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Aplastic anemia, Alopecia totalis, Small for gestational age, Cr... |
ORPHA:221008 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Cachexia, Vacuo... |
ORPHA:275761 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Hypertelorism, Neoplasm of the thymus, Splenomegaly, Enl... |
ORPHA:744 |
Peeling Skin Syndrome 1 |
|
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia |
OMIM:270300 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... |
ORPHA:464311 |
Deafness-Craniofacial Syndrome |
|
Deeply set eye, Temporal hypotrichosis |
ORPHA:3241 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Deeply set eye, Synophrys |
ORPHA:284169 |
Sotos Syndrome |
|
Hypertelorism, Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, Small ... |
OMIM:117550 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Aplasia/Hypop... |
ORPHA:39041 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Concave nail, Hypop... |
ORPHA:3071 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Fine hair, Anemia, Truncal obesity, Abnormality of female external genitalia,... |
ORPHA:2637 |
Leigh Syndrome |
|
Alopecia, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal ... |
ORPHA:506 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Sparse medial eyebrow, Bi... |
OMIM:619314 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Deeply set eye, Dystrophic fingernails |
ORPHA:2314 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Deeply set eye |
ORPHA:1154 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Hypertelorism |
OMIM:620001 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Hypertelorism, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Deeply... |
OMIM:252940 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:246900 |
Trisomy 9P |
|
Hypertelorism, Hypoplastic toenails, Deeply set eye, Fingernail dysplasia, Hypoplastic fingernail |
ORPHA:236 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Hypospadias, Abnormality o... |
ORPHA:235 |
Houge-Janssens Syndrome 1 |
|
Deeply set eye, Hypoglycemia, Hypertelorism |
OMIM:616355 |
De Barsy Syndrome |
|
Hypertelorism, Cryptorchidism, Deeply set eye, Sparse hair, Failure to thrive |
ORPHA:2962 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Ogden Syndrome |
|
Cryptorchidism, Proptosis, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Carney Complex |
|
Increased body weight, Papillary thyroid carcinoma, Thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia,... |
OMIM:609069 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Low anterior hairl... |
ORPHA:261318 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Deeply set eye, Highly arched eyebrow |
OMIM:616900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestational age, Nephr... |
OMIM:616026 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... |
ORPHA:634 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Amyotrophy, Hereditary Neuralgic |
|
Deeply set eye, Hypotelorism |
OMIM:162100 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Deeply set eye, Low anterior hairline, Hypertelorism |
OMIM:616875 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Hemihypotrophy of low... |
ORPHA:412035 |
Bardet-Biedl Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity |
OMIM:615981 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Pierre-Robin sequence, ... |
OMIM:117650 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parot... |
OMIM:154500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Leopard Syndrome 2 |
|
Curly hair, Hypertelorism |
OMIM:611554 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Low posterior hairline... |
ORPHA:79324 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Hypertelorism, Abnormal eyelash mo... |
ORPHA:1340 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hyperteloris... |
ORPHA:529962 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Hypertelorism, Sparse eyebrow, Low anterior hairline, Low posterior hairline, Deeply set eye |
OMIM:619720 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
OMIM:614739 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Thyroiditis, Weight loss, Iron deficiency anemia, Infertility, Delay... |
OMIM:212750 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hypoglycemia |
ORPHA:2394 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Alopecia totalis,... |
ORPHA:2909 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Coarse hair, Hypospadias, Abnormal hair pattern |
ORPHA:1786 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tub... |
ORPHA:49041 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Fine... |
ORPHA:3474 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Hypertelorism, Cryptorchidism, Deeply set eye, Vesicoureteral reflux, ... |
ORPHA:96061 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Deeply set eye, Obesity, Hypertelorism |
OMIM:619056 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, A... |
OMIM:617303 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia |
OMIM:615160 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Overgrowth, Small for gestational age, Diastasis recti, Large for gestational age |
ORPHA:254534 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate... |
OMIM:309800 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
Harel-Yoon Syndrome |
|
Deeply set eye |
OMIM:617183 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Weight loss, Lymphocyto... |
ORPHA:514 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, Deeply set eye, High anterior ... |
OMIM:600987 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria, Weight loss |
ORPHA:79238 |
Malan Overgrowth Syndrome |
|
Deeply set eye, Low posterior hairline |
ORPHA:420179 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Decreased testicular size, Anemia |
OMIM:620040 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Deeply set eye, Aminoaciduria, Cryptor... |
ORPHA:534 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Hypoglycemia |
OMIM:614702 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Highly arched eyebrow, Hypertelorism, Phimosis, Cryptorchidism, Synoph... |
ORPHA:363611 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Deeply set eye |
OMIM:300558 |
Mandibuloacral Dysplasia |
|
Alopecia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Glucose into... |
ORPHA:2457 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Hydronephrosis |
ORPHA:1745 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
OMIM:151660 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Hypertelorism, Stage 5 chronic kidney disease, Hypotelorism, Focal s... |
OMIM:619603 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Deeply set eye, Hypertelorism |
OMIM:201170 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Deeply set eye, Male pseudohermaphroditism |
ORPHA:1422 |
Alg9-Cdg |
|
Ureteral hypoplasia, Hypertelorism, Low posterior hairline, Proptosis, Hypoplasia of the ovary, H... |
ORPHA:79328 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Tapered finger |
ORPHA:589905 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly... |
OMIM:619418 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair, Hypertelorism |
ORPHA:2107 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Leukopenia, Nail dystrophy, Periungual erythema, Sparse hair, Thro... |
OMIM:615934 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Hyperhidrosi... |
ORPHA:96123 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Hypertelorism, Splenomegaly, Cryptorchid... |
OMIM:613563 |
Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia |
ORPHA:93316 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Hypospadias, Hypertelorism, Cryptorchidism, Widow's peak, Lo... |
OMIM:304110 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... |
OMIM:616007 |
Distal Xq28 Microduplication Syndrome |
|
Deeply set eye, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow |
ORPHA:293939 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Bile duct proliferation, Fasting hypoglycemia, Hypoglycemia |
OMIM:613027 |
Alazami Syndrome |
|
Sparse eyebrow, Deeply set eye |
ORPHA:319671 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Low anterior hairline, Papillary cystadenoma of th... |
OMIM:180849 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... |
ORPHA:65759 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Hypertelorism, Concave nail, Cryptorchi... |
ORPHA:33364 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Unilater... |
ORPHA:268261 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Deeply set eye, Proptosis |
OMIM:618707 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:289 |
Diamond-Blackfan Anemia 21 |
|
Hypertelorism, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eye... |
OMIM:620072 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Hypertelorism, Abnormal T cell subset distribution, Low posterior hair... |
ORPHA:221139 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Azoo... |
ORPHA:2072 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Hypertelorism, Large for gestational age, Cryptorchidism, Loose an... |
OMIM:607721 |
Frank-Ter Haar Syndrome |
|
Deeply set eye, Hypertelorism |
ORPHA:137834 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Failure to thrive |
OMIM:210210 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Hypotelorism, Deeply set eye, Erectile dysfunction, ... |
ORPHA:649 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Sparse ax... |
ORPHA:2136 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Hypertelorism, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholelit... |
OMIM:301066 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small scrotum, Small for gestational age, Hypoglycemia, Hypotelorism, Deeply set ey... |
OMIM:613658 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Developmental And Epileptic Encephalopathy 84 |
|
Deeply set eye, Synophrys |
OMIM:618792 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal h... |
OMIM:603467 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Hypospadias, Failure to thrive, Hy... |
OMIM:264090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Deeply set eye |
OMIM:619059 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Micrognathia, Open bite, High, narrow palate, Supernumerary tooth, Abn... |
ORPHA:3107 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Hypertelorism, Cryptorchidism, Widow's peak, Renal cyst, Hypotelorism, Deeply set ey... |
OMIM:616975 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptor... |
ORPHA:1606 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurodon... |
ORPHA:444072 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hypertelorism, Synophrys, Obesity, Deeply set eye, Thick eyebrow |
OMIM:618443 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Arthrogryposis, Distal, Type 5 |
|
Deeply set eye |
OMIM:108145 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Small for gestational age, Abnormality of hair texture, Cryptorchidism, Hypote... |
OMIM:610443 |
X-Linked Agammaglobulinemia |
|
Alopecia, Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:47 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, ... |
OMIM:619325 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deeply set eye, Decreased body weight |
OMIM:278760 |
Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... |
ORPHA:93928 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature |
ORPHA:85325 |
Joubert Syndrome 14 |
|
Deeply set eye, Renal cyst, Highly arched eyebrow, Hypertelorism |
OMIM:614424 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Highly arched eyebrow, Abnormality of the dentition, Hypopl... |
ORPHA:1299 |
Paganini-Miozzo Syndrome |
|
Deeply set eye, Urinary incontinence |
OMIM:301025 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Deeply set eye, Micropenis, Failure to thrive |
ORPHA:2896 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Sparse eyelashes, High, narrow palate, S... |
OMIM:612863 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline, Hypertelorism |
OMIM:613707 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Brachydactyly |
OMIM:603233 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Horizontal eyebrow, Vesicoureteral refl... |
OMIM:617330 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia... |
ORPHA:79474 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean platelet volume... |
ORPHA:84064 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Deeply set eye, Failure to thrive |
OMIM:614388 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Hypoglycemia |
OMIM:618120 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Renal insufficiency, Acute pancreatitis, Proteinuria, Stage 5 chronic kidney di... |
OMIM:619487 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micrognathia, Abnormal eyelash morphology, Trismus, Abnormal hair mo... |
ORPHA:2671 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Deeply set eye, Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
ORPHA:250989 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche |
OMIM:616878 |
Thrombocytopenia 6 |
|
Deeply set eye, Thrombocytopenia, Hypotelorism |
OMIM:616937 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Deeply set eye, Failure to ... |
OMIM:615802 |
Leber Congenital Amaurosis 8 |
|
Deeply set eye |
OMIM:613835 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Failure to thrive in infancy, Hypertelorism, Abnormality of the ureter... |
ORPHA:798 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Lamellar Ichthyosis |
|
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria |
OMIM:248360 |
Distal Deletion 12Q |
|
Hyperactivity, Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Esophage... |
ORPHA:96149 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia |
OMIM:256500 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... |
ORPHA:168572 |
Congenital Myopathy 22A, Classic |
|
Deeply set eye, Synophrys, Proptosis |
OMIM:620351 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hypoglycemia, Splenomegaly, Low anterior hairline, Failure to thrive, Hydrone... |
OMIM:608779 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Hyperhidrosis |
ORPHA:86893 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... |
OMIM:600901 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Low posterio... |
OMIM:617506 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Primary adrenal insufficiency, Fine hair, Urinary urgency,... |
ORPHA:139399 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fi... |
ORPHA:261349 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Hypospadias, Sparse eye... |
ORPHA:1896 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Renal cyst, Weight loss, Ovarian cyst, Membranous n... |
ORPHA:400 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hypospadias, Small for gestational age, Hypertelorism, Cryptorchidism, Low posterior hairline, Hy... |
OMIM:309590 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Nocturia, Weight loss |
ORPHA:178029 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Small for gestational age, Thin nail, Deeply set eye, Urinary retention, Neutropenia,... |
OMIM:617799 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Al-Raqad Syndrome |
|
Deeply set eye |
OMIM:616459 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Deeply set eye, Proptosis, Patchy alopecia, Hashimoto thyroiditis |
ORPHA:90289 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopi... |
OMIM:227650 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Low posterior hairline, Nephrocal... |
OMIM:136140 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous ... |
ORPHA:457279 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypertelorism, Hyposegmentation of neutrophil nuclei, Fine hair, Proptosis, Thick eyebrow |
OMIM:614800 |
Down Syndrome |
|
Decreased fertility, Obesity, Type II diabetes mellitus, Sparse hair, Hypothyroidism, Acute megak... |
ORPHA:870 |
Lessel-Kreienkamp Syndrome |
|
Deeply set eye |
OMIM:619149 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, Ne... |
ORPHA:116 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... |
ORPHA:79445 |
Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... |
OMIM:607626 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chro... |
OMIM:158310 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Angelman Syndrome |
|
Deeply set eye, Fair hair |
OMIM:105830 |
Serkal Syndrome |
|
Abnormal penis morphology, Abnormality of the adrenal glands, Hypospadias, Sex reversal |
ORPHA:139466 |
Myhre Syndrome |
|
Small for gestational age, Hypertelorism, Cryptorchidism, Obesity, Fine hair, Deeply set eye, Spa... |
OMIM:139210 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate, Highly arched eyebrow, Micrognathia |
ORPHA:2282 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Adrenocortica... |
OMIM:130650 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia |
OMIM:261750 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Chordee, Sparse hair, ... |
OMIM:151050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hypertelorism, Synophrys, Deeply set eye, Proptosis, Sparse hair, Toenail dysplasia, Hirsutism |
OMIM:300966 |
Ogden Syndrome |
|
Global glomerulosclerosis, Maternal diabetes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Fine... |
OMIM:300855 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Deeply set eye, Obesity |
OMIM:618430 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Micrognathia |
OMIM:222765 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Hypertelorism, Cryptorchidism, Coarse hair, Sparse hair |
OMIM:607812 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Deeply set eye, Failure to thrive in infancy, Decreased body weight |
OMIM:610758 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia, Hypertelorism |
ORPHA:1848 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Neonatal hypoglycemia, Nocturia, Reduced circulating prolactin concentration |
OMIM:223360 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormal hair pattern, Absent eyelashes... |
ORPHA:920 |
Rhabdoid Tumor |
|
Hematuria, Thrombocytopenia, Anemia, Weight loss |
ORPHA:69077 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Synophrys, Fine hair, Proptosis, Long eyelashes |
OMIM:620250 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Deeply set eye, Hypertrichosis |
OMIM:618590 |
Phelan-Mcdermid Syndrome |
|
Hypertelorism, Hypoplastic toenails, Deeply set eye, Long eyelashes, Polycystic kidney dysplasia,... |
OMIM:606232 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Deeply set eye |
OMIM:618480 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... |
ORPHA:445038 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hypertelorism, Hyperconvex thumb nails, Fine hair, Hydronephrosis |
ORPHA:3079 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Anemia, Leukopenia, A... |
OMIM:222700 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Perlman Syndrome |
|
Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Pancreatic islet-cell h... |
OMIM:267000 |
Glycogen Storage Disease Ib |
|
Proteinuria, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Nephrolithiasis, Focal... |
OMIM:232220 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Micrognathia, Absent eyelashes, Open bite, Abnorma... |
OMIM:115150 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Hypertelorism, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia |
OMIM:610768 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Deeply set eye, Failure to thrive, Hypertelorism, Hypotelorism |
OMIM:612940 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Deeply set eye, Ves... |
ORPHA:3455 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive, Hyperhidrosis |
OMIM:615279 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Hypotelorism, Deeply set eye, T... |
OMIM:619503 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia |
ORPHA:134 |
Acromegaly |
|
Diabetes mellitus, Abnormal fingernail morphology, Hypogonadotropic hypogonadism, Elevated circul... |
ORPHA:963 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Hypertelorism, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... |
ORPHA:507 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Alopecia totalis, Small for gestational age, Cryptorchidism, Sparse or absent ey... |
ORPHA:221016 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Deeply set eye, Low anterior hairline |
ORPHA:480898 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Failure to thrive, Dicarboxylic aciduria, Recurrent hypoglycemia |
OMIM:212140 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Neonatal hypoglycemia |
ORPHA:565624 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia |
OMIM:306000 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Unilate... |
OMIM:620305 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Hyperconvex nail, Decreased response to growth hormon... |
OMIM:613406 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Hypertelorism, Ectopic k... |
OMIM:227646 |
Noonan Syndrome |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the spleen, ... |
ORPHA:648 |
Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Hemochromatosis, Neonatal |
|
Hypoglycemia |
OMIM:231100 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Hypertelorism, Splenomegaly, Abnormality of the ureter, Aminoaciduria, ... |
ORPHA:30 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Deeply set eye, Hypotelorism |
OMIM:268850 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Hypertelorism |
ORPHA:1005 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Nail dystrophy, Type I dia... |
ORPHA:436252 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Hypertelorism, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Primrose Syndrome |
|
Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Hyperte... |
OMIM:259050 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, 3-hyd... |
OMIM:210200 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... |
ORPHA:99226 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Deeply set eye, Urinary incontinence |
OMIM:301041 |
Turner Syndrome |
|
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... |
ORPHA:881 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Deeply set eye, Neurogenic bladder, Hypertelorism |
ORPHA:280229 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Impulsivity, Aggressive beha... |
ORPHA:353281 |
Tyrosinemia, Type I |
|
Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... |
OMIM:276700 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Hyperactivity, Micrognathia, Carious teeth, Velopha... |
OMIM:223370 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy |
OMIM:300322 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair, Proptosis |
ORPHA:1185 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Renal hypoplasia, Anemia, Sparse hair... |
OMIM:620005 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Hyperhidrosis |
OMIM:618905 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Failure to thrive, Hyperconvex nail |
OMIM:619721 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Hyperhidrosis, Weight loss, Proptosi... |
ORPHA:35687 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb... |
OMIM:612199 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Abnormality of hair texture, Hypertelorism |
ORPHA:2752 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Hypertelorism, Dilatation of renal calices, Synophrys, Hirsutism, Obesity, Deeply set eye, Trunca... |
ORPHA:466950 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Hypoglycemia, Long-chain dica... |
OMIM:608836 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Decreased response... |
ORPHA:444077 |
Noonan Syndrome 7 |
|
Curly hair, Large for gestational age, Hypertelorism, Hyperhidrosis, Low posterior hairline |
OMIM:613706 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... |
ORPHA:247806 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope... |
ORPHA:974 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia, Hypertelorism, Sparse eyebrow, Large for gestational age, Proptosis, Shall... |
ORPHA:457359 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Weight loss, Abnormality of the scrotum, Failure to thrive, Gen... |
ORPHA:354 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Hypert... |
ORPHA:84 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia |
ORPHA:391428 |
Hawkinsinuria |
|
Sparse hair, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:140350 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Cholelithiasis, Hypertelorism, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, ... |
OMIM:618268 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Hypertelorism, Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair |
OMIM:616682 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Hepatosplenomegaly, Weight loss, Ovarian carcinoma,... |
ORPHA:1333 |
Tolchin-Le Caignec Syndrome |
|
Micrognathia, Submucous cleft hard palate, Hirsutism, High palate, Attention deficit hyperactivit... |
OMIM:618971 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Acute pancreatitis, Ketonuria, Leukocytosis, Weight loss, Leukopenia, 3-... |
ORPHA:20 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ketonuria, Hypoglycemia, Hyperglycemia |
OMIM:615453 |
Noonan Syndrome 2 |
|
Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Leukemia |
OMIM:605275 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, Anemia, Fai... |
ORPHA:905 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism, Hypertelorism |
ORPHA:2095 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Bladder Exstrophy |
|
Hypoplasia of penis, Epispadias, Abnormality of the ureter, Abnormality of the clitoris, Vesicour... |
ORPHA:93930 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Hypertelorism, Failure to thrive, Curly hair, Hypotelorism |
OMIM:300986 |
Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Narrow mouth, Re... |
ORPHA:35107 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Deeply set eye |
ORPHA:2570 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Somatomammotropinoma |
|
Diabetes mellitus, Abnormal fingernail morphology, Hypogonadotropic hypogonadism, Elevated circul... |
ORPHA:314769 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Ketonuria, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Episodic hyperhidrosis, El... |
ORPHA:94080 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... |
OMIM:232200 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Hyposp... |
OMIM:305000 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Exercise-induced myoglobinuria |
OMIM:300559 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... |
OMIM:219800 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... |
OMIM:305100 |
19P13.13 Microdeletion Syndrome |
|
Deeply set eye, Long eyelashes, Hypertelorism |
ORPHA:357001 |
Premature Aging Syndrome, Penttinen Type |
|
Hypertelorism, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Prop... |
OMIM:601812 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Obesity, Postaxial polydactyly |
OMIM:605231 |
Chromosome 16P13.3 Duplication Syndrome |
|
Hypertelorism, Cryptorchidism, Synophrys, Low anterior hairline, Deeply set eye, Hirsutism |
OMIM:613458 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... |
OMIM:250410 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Hypertelorism, Pseudohypoparathyroidism, Renal hypoplasia, Obesity, Deeply set eye, Sparse hair, ... |
OMIM:617157 |
Kabuki Syndrome 2 |
|
Highly arched eyebrow, Neonatal hypoglycemia, Horseshoe kidney, Long eyelashes, Decreased body we... |
OMIM:300867 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair pattern, Elevated circulati... |
ORPHA:2796 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Hypertelorism |
ORPHA:50814 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Hypertelorism, Epispadias, Proptosis, Shaw... |
ORPHA:2211 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Hypertelorism, Low anterior hairline... |
OMIM:272950 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair, Neurogenic bladder, Hypertelorism |
OMIM:130720 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... |
ORPHA:2753 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoglycemia |
OMIM:618329 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... |
ORPHA:171876 |
Shigellosis |
|
Failure to thrive in infancy, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, ... |
ORPHA:810 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematuria, Neutropenia... |
ORPHA:520 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypertelorism, Hypoplastic toenails, Cryptorchidism, Low posterior hai... |
ORPHA:261337 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Cryptorchidism, Low anterior hair... |
OMIM:601358 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Failure to thrive, Reduced circulating growth hormone concentration |
OMIM:615508 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Marshall Syndrome |
|
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Proptosis, Sparse hair |
ORPHA:560 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Hypertelorism, Stage 5 chronic kidney disease, Deeply s... |
OMIM:617729 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Deeply set eye, Failure to thrive |
ORPHA:60040 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Hypospadias |
OMIM:619184 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ambiguous genitalia, Hypertelorism, Absent eyelashes, Hypoplastic labia majora, H... |
OMIM:200110 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypospadias, Hypoglycemia, Methylmalonic aciduria, Hyperhidrosis, 3... |
ORPHA:17 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Hydronephrosis, Delayed puberty |
OMIM:614921 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Deeply set eye, Urinary incontinence |
OMIM:619934 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Deeply set eye, Anhidrosis |
ORPHA:64752 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Deeply set eye, Dilated third ventricle, Obesity |
OMIM:617296 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Wide mouth, Short... |
OMIM:300967 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E... |
ORPHA:26791 |
Cockayne Syndrome Type 3 |
|
Dry hair, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Spleno... |
ORPHA:90324 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Intestinal malrotat... |
OMIM:616268 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Anemia, Neutropenia, Abnor... |
ORPHA:537 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Takayasu Arteritis |
|
Weight loss, Anemia, Hyperhidrosis |
ORPHA:3287 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, S... |
OMIM:230740 |
Holoprosencephaly 1 |
|
Hypoglycemia, Adrenal hypoplasia, Micropenis, Hypotelorism, Cyclopia, Diabetes insipidus |
OMIM:236100 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Hypertelorism, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair, Cryptorchidism, Hypertelorism |
OMIM:616564 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, White hair, Anemia, Fine hair |
ORPHA:935 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Thick eyebrow, Failure to thrive, Hypospadias, Hypertelorism, Overweight, Synophry... |
OMIM:619475 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Pancreatic fibrosis, Small for gestational... |
OMIM:557000 |
Glutaric Acidemia I |
|
Glutaric aciduria, Failure to thrive, Ketonuria, Hypoglycemia |
OMIM:231670 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hypoglycemia |
ORPHA:156 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Stage 5 chronic kidne... |
ORPHA:2044 |
Marshall-Smith Syndrome |
|
Failure to thrive, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism,... |
OMIM:602535 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Pancreatitis, Hypoglycemia |
OMIM:248600 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Hypertelorism, Large for gestational age, Fine hair, Acute lymphoblastic l... |
OMIM:280000 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Splenomegaly, Generalized aminoaciduria, Failure to thrive, Thrombocytopenia |
OMIM:251880 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... |
OMIM:600057 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Hypertelorism, Sparse eyebrow, Ectopic kidney, Synophrys, Cryptorchidism, Proptosis,... |
ORPHA:3063 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Aggressive behavior, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Intention... |
ORPHA:314647 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Abnormal fingernail morphology, Pyelonephritis, Hypohidrosis, Duplication o... |
ORPHA:2036 |
White-Sutton Syndrome |
|
Hypertelorism, Obesity, Hypoglycemic seizures, Sparse hair, Failure to thrive |
OMIM:616364 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat glands, Sparse ha... |
OMIM:612132 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Methioninuria, Failure to thrive, Homocystinuria, Pancreatitis |
OMIM:236200 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Hypertelorism, Coarse hair, Sparse hair, Failure to thrive |
ORPHA:357074 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Highly arched eyebrow, Hypertelorism, Hypoglyc... |
OMIM:220111 |
Isolated Complex I Deficiency |
|
Failure to thrive, Proximal tubulopathy, Diabetes mellitus, Hypoglycemia |
ORPHA:2609 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Failure to thrive, Absent nipple, Small scrotum, Small for gestational age, Hy... |
OMIM:612289 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Trichiasis, Highly arched ey... |
ORPHA:353284 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Trichiasis, Highly arched ey... |
ORPHA:353277 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Horseshoe kidney, Abnormality of the clitoris, ... |
ORPHA:93929 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Highly arched eyebrow, Hypertelorism, Low posterior hairline, Thick eyebrow |
OMIM:617360 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Ketonuria, Hypoglycemic seizures |
ORPHA:480864 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
ORPHA:434179 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Hypoglycemia, Fasting hypoglycemia, Neonatal hypoglycemia |
ORPHA:348 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair |
OMIM:614099 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia |
ORPHA:90060 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Hypoglycemia, Aminoaciduria, Failure to thrive, Neonatal hypoglycemia |
OMIM:619055 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Hypoglycemia, Splenomegaly, Lacticaciduria, Failure ... |
OMIM:252010 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
Cholera |
|
Abnormality of renal excretion, Hypoglycemia, Deeply set eye, Acute kidney injury, Decreased urin... |
ORPHA:173 |
Neonatal Marfan Syndrome |
|
Deeply set eye, Small for gestational age, Decreased testicular size |
ORPHA:284979 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Proteinuria, Vaginal neoplasm, Chronic kidney disease, Stage 5 chronic kidney ... |
ORPHA:1018 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy... |
OMIM:181270 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia |
OMIM:201450 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Zttk Syndrome |
|
Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Horseshoe ki... |
OMIM:617140 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Coarse hair, Mucopolysacchariduria, Thick eyebrow |
ORPHA:585 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Hypospadias, Hypertelorism, Splenomegaly, Synophrys, Low anterior... |
ORPHA:955 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia |
ORPHA:746 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Supernumerary nipple, Deep philtrum, Submucous cleft hard palate, Thin ... |
OMIM:619194 |
Duane Retraction Syndrome |
|
Deeply set eye, Patchy hypopigmentation of hair, Ectopic kidney, Low posterior hairline |
ORPHA:233 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Hydronephrosis |
OMIM:302960 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair, Thrombocytopenia, Shallow orbits |
OMIM:612394 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, T lymphocytope... |
ORPHA:508533 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Failure to thrive, Dicarboxylic aciduria, Thrombocytopenia |
ORPHA:99901 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Bilateral cryptorchidism, Hydrometrocolpos, Vesicoureteral refl... |
OMIM:150230 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Deeply set eye |
OMIM:601559 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:276621 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Congenital Myopathy 22B, Severe Fetal |
|
Deeply set eye, Synophrys, Proptosis |
OMIM:620369 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hypoglycemia, Megaloblastic anemia, Hemolytic-uremic syndrome, Me... |
ORPHA:79282 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Deeply set eye, Thick eyebrow |
OMIM:620047 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, Proptosis |
ORPHA:85184 |
Tetrasomy 9P |
|
Absent gallbladder, Hypertelorism, Cryptorchidism, Pilomatrixoma, Horseshoe kidney, Oligozoosperm... |
ORPHA:3310 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... |
ORPHA:98908 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Hypertelorism, Sparse eyebrow, Congenital hypothyroidism, H... |
OMIM:620186 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Distal 17P13.1 Microdeletion Syndrome |
|
Deeply set eye |
ORPHA:319171 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Hypertelorism, Synophrys, Obesity, Deeply set eye, Pelvic kidney, Dilatation of renal calices |
ORPHA:466943 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Small for gestational age, Hydronephrosis, Hypoglycemia |
OMIM:617093 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:29072 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... |
OMIM:619355 |
Immunodeficiency 59 And Hypoglycemia |
|
High anterior hairline, Hypoglycemia, Decreased proportion of class-switched memory B cells |
OMIM:233600 |
Pyomyositis |
|
Renal insufficiency, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Al Amyloidosis |
|
Renal insufficiency, Howell-Jolly bodies, Proteinuria, Xerostomia, Weight loss, Nephrotic syndrom... |
ORPHA:85443 |
15Q14 Microdeletion Syndrome |
|
Deeply set eye |
ORPHA:261190 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Nail dystrophy, Sparse hair |
ORPHA:85448 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... |
ORPHA:2658 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... |
ORPHA:273 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Abnormality of hair texture |
ORPHA:88618 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recurren... |
OMIM:124000 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Pancreatitis, Weight loss |
ORPHA:65682 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Hypertelorism, Ectopic kidney, Cryptorchidism, Synophry... |
OMIM:607872 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia |
OMIM:617049 |
16P11.2P12.2 Microdeletion Syndrome |
|
Deeply set eye, Hypotelorism |
ORPHA:261211 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Stromme Syndrome |
|
Accessory spleen, Hypertelorism, Bilateral renal hypoplasia, Deeply set eye, Hydronephrosis |
OMIM:243605 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Proptosis, Decreased body weight |
OMIM:615349 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Hyperhidrosis |
ORPHA:99868 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Hypohidrosis, Anoperineal fistula, Nail dystrophy, Sparse hair, Failure to th... |
ORPHA:158668 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Weight loss, Iron deficiency anemia, Paraganglioma, Atypical pu... |
ORPHA:100075 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Deeply set eye |
OMIM:305390 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Cryptorchidism, Loss of eyelashes, Abnormal circulating calcium-phosphate ... |
ORPHA:2636 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Hypoglycemia, Thin nail, Concave nail, Hypertelo... |
OMIM:218040 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertelo... |
ORPHA:2750 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... |
ORPHA:37 |
Menkes Disease |
|
Hypopigmentation of hair, Hypoglycemia, Bladder diverticulum, Sparse hair, Woolly hair |
ORPHA:565 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow |
OMIM:212066 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia |
OMIM:609015 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Abdominal obesity, Obesity |
OMIM:219090 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Hypohidr... |
ORPHA:548 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Coarse hair, B ... |
ORPHA:83617 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Hypertelorism, Asplenia, Deeply set eye, Bicornuate uterus, Annular pan... |
OMIM:265380 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:42642 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hype... |
ORPHA:2461 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Sparse hair, Decreased testicular size, Sp... |
OMIM:309500 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Hypertelorism, Sparse eyeb... |
OMIM:614748 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Liver Disease, Severe Congenital |
|
Dry hair, Failure to thrive, Hypospadias, Biliary hyperplasia, Thrombocytopenia, Splenomegaly, Ab... |
OMIM:619991 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Cleft lip, Low anterior hairline, High palate, Adenocarcinoma of... |
ORPHA:124 |
Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Short nail, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuc... |
OMIM:275210 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Neonatal hypoglycemia |
OMIM:616271 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
Loeys-Dietz Syndrome 4 |
|
Deeply set eye, Hypertelorism |
OMIM:614816 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Weight loss, Renal tu... |
ORPHA:99885 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Felty Syndrome |
|
Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria |
OMIM:620300 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hematur... |
OMIM:232240 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Dicarboxylic aciduria, Hypoketotic hypoglycemia |
OMIM:255120 |
Menke-Hennekam Syndrome 1 |
|
Cryptorchidism, Deeply set eye, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:618332 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Giant Cell Arteritis |
|
Renal insufficiency, Alopecia, Hyperhidrosis, Hematuria, Weight loss, Diabetes insipidus |
ORPHA:397 |
Alagille Syndrome 1 |
|
Hypertelorism, Multiple small medullary renal cysts, Renal hypoplasia, Stage 5 chronic kidney dis... |
OMIM:118450 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Lacticaciduria, Elevated urine a... |
OMIM:615751 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglottis, Hypodo... |
OMIM:617088 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... |
OMIM:181450 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Deeply set eye, Proptosis |
OMIM:616914 |
Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Dermatan sulfate excretion in urine,... |
OMIM:253220 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia |
OMIM:600649 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Large for gestational age, Cryptorchidism, Hepatosplenomegaly, Deepl... |
ORPHA:96334 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Deeply set eye, Failure to thrive, Hypertelorism |
ORPHA:412069 |
Oculodentodigital Dysplasia |
|
Dry hair, Neurogenic bladder, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia, Hypertelorism |
ORPHA:572798 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Hyperhidrosis |
ORPHA:391 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Absent fingernail, Highly arched eyebrow, Absent toenail |
ORPHA:261330 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Renal insufficiency, Hypoglycemia, Orchitis, Neutrophilia in presen... |
ORPHA:99826 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha... |
ORPHA:363618 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Nephro... |
ORPHA:139402 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Sparse hair, Thick eyebrow |
OMIM:609460 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst... |
OMIM:210710 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Renal magnesium wasting, Chronic kidney disease, Stage ... |
OMIM:218330 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe ... |
OMIM:305600 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Geroderma Osteodysplasticum |
|
Deeply set eye, Hypertelorism |
OMIM:231070 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Hydroureter, Abnormal eyelash morphology, Abnormal hai... |
ORPHA:2273 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Hypertelorism, Cryptorchidism, Deeply set eye, ... |
OMIM:235730 |
Viss Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Chronic gastritis, Duodenitis, Intestinal malrota... |
OMIM:619472 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
OMIM:207900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Hypertelorism, Abnormal eyelash morphology, C... |
ORPHA:286 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Hypertelorism, Large for gestational age, Renal cyst, Deeply set eye, Bifi... |
OMIM:617107 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Hirsutism |
OMIM:301044 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Exercise-induced myoglobinuria |
OMIM:201475 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Small for gestational age, Highly arched eyebrow, Unilateral renal a... |
ORPHA:508488 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Hypertelorism, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Sparse hair, Fa... |
OMIM:252500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... |
ORPHA:261537 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Dry hair, Low anterior hairline |
OMIM:618569 |
Granulomatosis With Polyangiitis |
|
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Prostatitis, Weight loss, Hema... |
ORPHA:900 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra... |
ORPHA:36426 |
Alveolar Echinococcosis |
|
Eosinophilia, Pancreatic cysts, Renal cyst, Weight loss, Abnormal spleen morphology, Abnormal adr... |
ORPHA:284 |
17Q11 Microdeletion Syndrome |
|
Hypertelorism, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, Deeply set ey... |
ORPHA:97685 |
Brucellosis |
|
Small for gestational age, Glomerulonephritis, Hypersplenism, Thrombocytopenia, Leukocytosis, Spl... |
ORPHA:1304 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... |
OMIM:614162 |
Chronic Graft Versus Host Disease |
|
Alopecia, Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, Weight loss, Hematuri... |
ORPHA:99921 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Hypertelorism, Large fo... |
ORPHA:500095 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Mucopolysacchariduria, Neutropenia, Sparse hair, Failure to thrive, Anemia |
ORPHA:175 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, H... |
ORPHA:2152 |
Igg4-Related Kidney Disease |
|
Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Sialadenitis, Nephrotic... |
ORPHA:449395 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Obesity, Hypohidrosis, Deeply set eye, Long eyelashes, Vesicoureteral reflu... |
ORPHA:48652 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Elevated hemoglobin A1c, Sparse eyebrow, Focal segmental glomerulosclerosis, Proptos... |
OMIM:619127 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Increased body weight, Proximal amyotrophy |
ORPHA:189427 |
Stickler Syndrome |
|
Proptosis, Slender build, Cachexia, Hypertelorism |
ORPHA:828 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Trichilemmoma, Nail d... |
ORPHA:477 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... |
ORPHA:740 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Reduced ... |
OMIM:301074 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia |
ORPHA:26793 |
Secondary Short Bowel Syndrome |
|
Weight loss, Failure to thrive, Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Polyuria, Impaired glucose tolerance, Insulin resis... |
OMIM:606721 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
3Q27.3 Microdeletion Syndrome |
|
Deeply set eye |
ORPHA:397695 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis |
ORPHA:188 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia |
ORPHA:228305 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss |
ORPHA:33276 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Short nail, Hypertelorism, Aplasia/Hypoplastia of the eccrine ... |
ORPHA:1662 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
Pettigrew Syndrome |
|
Deeply set eye |
OMIM:304340 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Iron deficiency anemia, Small intestine carcinoid, Increased serum serotonin, Hydron... |
ORPHA:100078 |
Wrinkly Skin Syndrome |
|
Short nail, Hypertelorism, Cryptorchidism, Sparse hair, Failure to thrive, Fragile nails |
OMIM:278250 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Short uvula, Submucous cleft hard palate, Retrogn... |
OMIM:619539 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Lacticaciduria |
ORPHA:3008 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Menometrorrhagia, Weight loss, Long eyelashes, Neu... |
ORPHA:79430 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... |
ORPHA:261552 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Castleman Disease |
|
Renal insufficiency, Weight loss, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral ... |
ORPHA:160 |
Developmental And Epileptic Encephalopathy 2 |
|
Deeply set eye |
OMIM:300672 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Failure to thrive, Anemia |
OMIM:619377 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Splenomegaly, Renal cyst, B... |
OMIM:613610 |
Campomelic Dysplasia |
|
Irregular dentition, Short nail, Micrognathia, Carious teeth, Submucous cleft hard palate, Cleft ... |
OMIM:114290 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Deeply set eye |
OMIM:618343 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Highly arched eyebrow, Hypertelorism, Frontal balding, Synophrys, Hypotelorism, Deeply set eye, T... |
OMIM:612474 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4... |
ORPHA:90362 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Weight loss |
ORPHA:449400 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair, Weight loss, Shallow orbits |
ORPHA:576 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia |
OMIM:256810 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Yao Syndrome |
|
Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss, Anemia, Hyperhidrosis |
ORPHA:52417 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Hypertelorism, Hyperconvex fingernails, Coarse hair, Decreased body weight... |
OMIM:303600 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in... |
OMIM:149730 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Phimosis, Sparse anterior scalp hair, Cry... |
ORPHA:821 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Sparse e... |
ORPHA:500150 |
Wrinkly Skin Syndrome |
|
Sparse hair, Cryptorchidism, Failure to thrive, Hypertelorism |
ORPHA:2834 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Branchiooculofacial Syndrome |
|
Hypospadias, Supernumerary nipple, Hypertelorism, Cryptorchidism, Renal cyst, Low posterior hairl... |
OMIM:113620 |
Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hypertelorism, Coarse hair, Proptosis, Frontal hirsutism, Failure to thrive, H... |
OMIM:309350 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Kikuchi-Fujimoto Disease |
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Alopecia, Splenomegaly, Weight loss, Anemia, Leukopenia, Enlargement of parotid gland, Lymphocyto... |
ORPHA:50918 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Micrognathia, Submucous cleft hard palate, Bifid uvula, Retrognathia, Neoplasm of the tongue |
ORPHA:3047 |
Focal Myositis |
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Weight loss |
ORPHA:48918 |
Bardet-Biedl Syndrome 12 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity |
OMIM:615989 |
Mucopolysaccharidosis Type 3 |
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Thick hair, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Mucopolysac... |
ORPHA:581 |
Magel2-Related Prader-Willi-Like Syndrome |
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Flexion contracture, Small hand, Increased body weight, Short foot, Abdominal obesity, Failure to... |
ORPHA:398069 |
Primary Hepatic Neuroendocrine Carcinoma |
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Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm |
ORPHA:100085 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Supernumerary tooth, Ankyloglossia, Micrognathia |
OMIM:619525 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Failure to thrive, Hypoglycemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:617156 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Anemia, Abnormality of hair texture |
ORPHA:667 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight loss, Enlargement of parotid gland, Tub... |
ORPHA:79078 |
Cerebral Visual Impairment |
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Neonatal hypoglycemia |
ORPHA:447788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Deeply set eye |
OMIM:614643 |
Glucose-Galactose Malabsorption |
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Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Fructose Intolerance, Hereditary |
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Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology |
ORPHA:722 |
African Trypanosomiasis |
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Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Abnormal... |
ORPHA:3385 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Nephrotic syndrome, Hypothyroi... |
OMIM:615846 |
Loeffler Endocarditis |
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Eosinophilia, Weight loss |
ORPHA:75566 |
Eosinophilic Granulomatosis With Polyangiitis |
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Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
Autosomal Dominant Epidermolytic Ichthyosis |
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Weight loss |
ORPHA:312 |
Inflammatory Bowel Disease 11 |
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Weight loss |
OMIM:191390 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased body weight |
OMIM:615830 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Proptosis, Eosinophilia, Cachexia |
ORPHA:75565 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia |
ORPHA:25 |
Primary Sclerosing Cholangitis |
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Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Hepatosplenomegal... |
ORPHA:171 |
Fatal Familial Insomnia |
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Weight loss, Urinary retention, Hyperhidrosis |
OMIM:600072 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Amoebiasis Due To Entamoeba Histolytica |
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Leukocytosis, Anemia, Weight loss |
ORPHA:67 |
Osteosarcoma |
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Weight loss |
ORPHA:668 |
Pulmonary Alveolar Microlithiasis |
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Calcium nephrolithiasis, Decreased fertility, Weight loss, Gonadal calcification, Hematuria, Test... |
ORPHA:60025 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... |
OMIM:601803 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Hy... |
ORPHA:79318 |
Caroli Disease |
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Splenomegaly, Leukocytosis, Weight loss, Polycystic kidney dysplasia, Cholelithiasis |
ORPHA:53035 |
Pneumocystosis |
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Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Simple Cryoglobulinemia |
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Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Chronic lymphatic leu... |
ORPHA:91139 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Weight loss, T... |
ORPHA:71493 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Renal insufficiency, Failure to thrive, Anterior pituitary hypoplasia, Hypertelorism,... |
OMIM:619534 |
Polyarteritis Nodosa |
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Weight loss |
ORPHA:767 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Weight loss |
ORPHA:216866 |
Nephroblastoma |
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Hematuria, Weight loss |
ORPHA:654 |
Cap Polyposis |
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Weight loss |
ORPHA:160148 |
Acute Liver Failure |
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Acute kidney injury, Adrenal insufficiency, Thrombocytopenia, Hypoglycemia |
ORPHA:90062 |
Neurocardiofaciodigital Syndrome |
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Small for gestational age, Sparse eyebrow, Vesicoureteral reflux, Sparse hair, Failure to thrive |
OMIM:619869 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Weight loss |
ORPHA:411703 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Weight loss |
ORPHA:103910 |
Multiple Myeloma |
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Splenomegaly, Weight loss, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia |
ORPHA:29073 |
Q Fever |
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Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Weight loss, Thrombocytopenia |
ORPHA:781 |
Rat-Bite Fever |
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Parotitis, Pancreatitis, Anemia, Weight loss |
ORPHA:31205 |
Hereditary Fructose Intolerance |
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Episodic hyperhidrosis, Renal insufficiency, Chronic kidney disease, Reactive hypoglycemia |
ORPHA:469 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
3-Methylglutaconic Aciduria, Type Viii |
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3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Failure to thrive, Neonatal ... |
OMIM:617248 |
Occipital Horn Syndrome |
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Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis |
OMIM:304150 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
1P21.3 Microdeletion Syndrome |
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Deeply set eye, Obesity |
ORPHA:293948 |
Von Hippel-Lindau Disease |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Juvenile Dermatomyositis |
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Alopecia, Weight loss |
ORPHA:93672 |
Postinfectious Vasculitis |
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Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Weight loss,... |
ORPHA:48435 |
Lymphoid Interstitial Pneumonia |
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Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Congenital Tufting Enteropathy |
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Failure to thrive, Weight loss |
ORPHA:92050 |
Nodular Non-Suppurative Panniculitis |
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Splenomegaly, Weight loss |
ORPHA:33577 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Behçet Disease |
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Renal insufficiency, Orchitis, Splenomegaly, Weight loss, Pancreatitis |
ORPHA:117 |
Carney-Stratakis Syndrome |
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Paraganglioma, Weight loss |
ORPHA:97286 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Deeply set eye |
OMIM:616393 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Increased body weight, Proximal amyotrophy |
ORPHA:96253 |
Budd-Chiari Syndrome |
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Splenomegaly, Weight loss |
ORPHA:131 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Marfan Syndrome |
|
Deeply set eye |
OMIM:154700 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Polycythemia Vera |
|
Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Curly hair, Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, H... |
ORPHA:480880 |
Occipital Horn Syndrome |
|
Bladder diverticulum, Coarse hair, Thick hair |
ORPHA:198 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail, Weight loss |
ORPHA:221 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, T... |
ORPHA:91500 |
Fibromuscular Dysplasia, Multifocal |
|
Deeply set eye |
OMIM:619329 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney |
OMIM:261740 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Reactive Arthritis |
|
Dystrophic fingernails, Abnormality of the nail, Weight loss |
ORPHA:29207 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Hypercalciuria, Weight loss, Abnormal saliv... |
OMIM:181000 |
Hereditary Late-Onset Parkinson Disease |
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Spastic/hyperactive bladder, Weight loss |
ORPHA:411602 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Riddle Syndrome |
|
Weight loss, Enuresis nocturna |
ORPHA:420741 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
Nocardiosis |
|
Abnormality of the adrenal glands, Thyroiditis, Weight loss |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Choreoacanthocytosis |
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Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Acanthocytosis |
ORPHA:2388 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |