| Hypotrichosis 1 |
|
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... |
OMIM:605389 |
| Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... |
ORPHA:66624 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia |
ORPHA:55654 |
| Hypotrichosis 10 |
|
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow |
OMIM:614238 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... |
OMIM:615059 |
| Hypotrichosis 4 |
|
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia |
OMIM:146550 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... |
ORPHA:2722 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... |
ORPHA:3077 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... |
ORPHA:189 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... |
ORPHA:1808 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia |
ORPHA:505 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Woolly Hair, Autosomal Recessive 3 |
|
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair |
OMIM:616760 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Ataxia, Gait disturbance, Sparse hair |
ORPHA:1174 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Thick eyebrow, Sparse hair, Intrauterine growth retardation, Widow's peak |
OMIM:606242 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia |
OMIM:617294 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Growth delay, Ataxia, Sparse hair, Small for gestational age, Alopecia |
ORPHA:3363 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Nail dystrophy, Tiger tail banding, Sparse eyebrow, Ataxia, Sparse hair |
OMIM:619692 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... |
ORPHA:3361 |
| Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Long eyebrows, Long eyelashes, Severe short stature, Sparse hair, Small for gest... |
OMIM:275400 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Hypotrichosis 7 |
|
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... |
OMIM:604379 |
| Perlman Syndrome |
|
Short nose, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Cr... |
ORPHA:2849 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter, Sparse hair |
OMIM:615074 |
| Moynahan Syndrome |
|
Short stature, Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Pseudoprogeria Syndrome |
|
Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Failure to thrive, Short s... |
ORPHA:2985 |
| Dietary Iron Overload Disease |
|
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... |
ORPHA:139507 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Obesity, Sparse body hair |
ORPHA:85274 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Failure to thrive, Sparse body hair, Intrauterine growth retardation, Truncal obesity |
ORPHA:261483 |
| Monilethrix |
|
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... |
ORPHA:573 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... |
ORPHA:1818 |
| Angioma Serpiginosum, X-Linked |
|
Nail dystrophy, Fine hair, Sparse hair |
OMIM:300652 |
| Gm2 Gangliosidosis, Ab Variant |
|
Postnatal growth retardation, Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Sho... |
ORPHA:309246 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Impotence, Osteop... |
OMIM:235200 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Severe short stature, Ridged fingernail, Sparse hair, Fingernail dy... |
ORPHA:2251 |
| Monilethrix |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia |
OMIM:158000 |
| Heyn-Sproul-Jackson Syndrome |
|
Intrauterine growth retardation, Decreased body weight, Severe short stature, Sparse hair |
OMIM:618724 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Motor stereotypy, Sparse hair, Attention deficit hyperactivity dis... |
OMIM:301029 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair |
OMIM:618625 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair |
OMIM:234030 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... |
OMIM:614931 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Hypotrichosis 9 |
|
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... |
OMIM:614237 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... |
OMIM:602032 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair |
OMIM:129490 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Joint stiffness, Sple... |
OMIM:252920 |
| Hawkinsinuria |
|
Failure to thrive, Fine hair, Sparse hair |
ORPHA:2118 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow |
OMIM:616099 |
| Crandall Syndrome |
|
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia |
ORPHA:202 |
| Schopf-Schulz-Passarge Syndrome |
|
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... |
OMIM:224750 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye... |
ORPHA:52901 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair |
ORPHA:79133 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomega... |
ORPHA:465508 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Broad-based gait, Tiger tail banding, Gait ataxia, Short stature... |
OMIM:300953 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... |
ORPHA:1433 |
| Fg Syndrome 3 |
|
Hyperactivity, Frontal upsweep of hair, Fine hair, Sparse hair |
OMIM:300406 |
| Bazex-Dupré-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... |
ORPHA:113 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Delayed puberty, Irritability, Brittle hair, Depression, Broad-based gait, Dysdiadochokinesis, Co... |
OMIM:618891 |
| Trichodental Dysplasia |
|
Slow-growing hair, Fine hair, Sparse hair, Brittle hair |
OMIM:601453 |
| Witkop Syndrome |
|
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... |
OMIM:189500 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy |
ORPHA:85447 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Short stature, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair |
OMIM:227260 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Failure to thrive, Ataxia, Sparse hair, Intrauterine growth retardation, Alopecia |
OMIM:616353 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Growth delay, Sparse hair, Attention deficit hyperactivity disorder, Fine hair, Ag... |
ORPHA:251019 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short nose, Hypospadias, Decreased skull ossification, Hypertrophic cardiomyopathy, M... |
OMIM:616897 |
| Hypotrichosis 12 |
|
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... |
OMIM:615885 |
| Filippi Syndrome |
|
Postnatal growth retardation, Decreased body weight, Frontal hirsutism, Sparse hair, Intrauterine... |
OMIM:272440 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Postnatal growth retardation, Broad-based gait, Synophrys, Short stature, Thick eyebrow, Sparse h... |
OMIM:611091 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Scarring alopecia of scalp, Growth delay, Sparse body hair, Anonychia |
ORPHA:79402 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Compulsive behaviors, Low posterior hairline, Synophrys, Ataxia, Thin eyebrow, Sparse hair, Atten... |
OMIM:619320 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo... |
ORPHA:1809 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... |
OMIM:602400 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of the eyebr... |
ORPHA:2850 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Hirsutism, Long eyelashes, Ataxia, Low anterior hairline, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Failure to thrive, Sparse hair,... |
OMIM:614602 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Low posterior hairline, Short stature, Obesity, Sparse facial hair, Absent facial hair |
ORPHA:2183 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... |
OMIM:613102 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Failure to thrive, Slender build, Sparse facial hair, Sparse axillary hair, Intrau... |
OMIM:608154 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Short stature, Growth delay, Sparse hair, Abdominal obesity |
ORPHA:631 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Delayed puberty, Truncal ataxia, Gait ataxia, Short stature, Growth delay, Sparse hair, Intrauter... |
OMIM:616817 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... |
OMIM:208540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Irritability, Loss of ambulation, Dysphagia, Sparse hair, Intrauterine growth retardation, Small ... |
OMIM:618253 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Short stature, Coarse hair, Sparse hair |
OMIM:619985 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair |
OMIM:618535 |
| Cronkhite-Canada Syndrome |
|
Anorexia, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Cachexia, Dystrophic toenail... |
ORPHA:2930 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bones, Card... |
OMIM:253250 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Abnormality of the nail, Brittle hair, Short stature, Failure to thrive... |
ORPHA:2963 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... |
ORPHA:2890 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Brittle hair, Broad-based gait, Gait ataxia, Sparse eyelashes, Failure to thri... |
OMIM:617988 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:104100 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Hypertr... |
OMIM:300280 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly |
ORPHA:615 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
| Hypotrichosis 13 |
|
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology |
OMIM:615896 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Congenital Short Bowel Syndrome |
|
Short stature, Sparse hair |
ORPHA:2301 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair |
OMIM:211390 |
| Nicolaides-Baraitser Syndrome |
|
Curly eyelashes, Highly arched eyebrow, Long eyelashes, Severe short stature, Abnormal hair patte... |
ORPHA:3051 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Synophrys, Curly hair, Sparse eyebrow, Sparse hair, Self-injurious behavior, Aggre... |
OMIM:620075 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Absent eyebrow, Sparse hair, Curly hair |
OMIM:615278 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:324410 |
| Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Short stature, Sparse hair, Attention deficit hyperactivity disorder, Tru... |
ORPHA:284180 |
| Fanconi Anemia, Complementation Group S |
|
Long eyelashes, Short stature, Failure to thrive, Ataxia, Low anterior hairline, Sparse hair |
OMIM:617883 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:617396 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Jaundice, Hepatomegaly |
ORPHA:858 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... |
ORPHA:860 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... |
OMIM:604536 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Delayed puberty, Broad-based gait, Severe postnatal growth retardation, Decreased body weight, Pr... |
ORPHA:391408 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Inability to walk, Hirsutism, Ataxia, Sparse hair, Dysmetria |
OMIM:618087 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness |
ORPHA:100924 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... |
OMIM:234050 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ... |
OMIM:212140 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... |
OMIM:239850 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
| Hypotrichosis 14 |
|
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair |
OMIM:618275 |
| Dermoodontodysplasia |
|
Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia |
ORPHA:1660 |
| Hawkinsinuria |
|
Failure to thrive, Restlessness, Sparse hair |
OMIM:140350 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Sparse body hair, Intrauterine growth retardation, Abdominal obesity, Small for ge... |
OMIM:300869 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Dysphagia |
OMIM:313200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Coarse hair, Sparse hair, Brittle hair |
ORPHA:1883 |
| Wolfram Syndrome 1 |
|
Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroidism, Hydronephros... |
OMIM:222300 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Asplenia, Aortic valve ... |
ORPHA:210122 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse body hair, Sparse hair |
ORPHA:1810 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Chromosome 5P13 Duplication Syndrome |
|
Compulsive behaviors, Low posterior hairline, Sparse hair, Motor stereotypy, Self-injurious behav... |
OMIM:613174 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... |
ORPHA:2470 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower ... |
ORPHA:1807 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Short stature, Sparse eyebrow, Sparse hair |
OMIM:619989 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Failure to thrive, Dysphagia, Sparse hair |
OMIM:620001 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... |
OMIM:602782 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability, Hirsutism, Obesity, Abdominal obesity |
OMIM:219090 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Short nose, Hyperextensibility of the finger joints, Bilateral cryptorchidism, A... |
OMIM:305400 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Short stature, Growth delay, Sparse hair, Intrauterine growth retardation, Abnormal hair whorl |
ORPHA:2872 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Desbuquois Syndrome |
|
Abnormal eyelash morphology, Severe short stature, Disproportionate short-limb short stature, Spa... |
ORPHA:1425 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Elevated urinary 3-hydr... |
ORPHA:42 |
| White-Sutton Syndrome |
|
Irritability, Hyperactivity, Waddling gait, Tics, Short stature, Failure to thrive, Obesity, Spar... |
OMIM:616364 |
| Renal Cysts And Diabetes Syndrome |
|
Biliary tract abnormality, Decreased numbers of nephrons, Atretic vas deferens, Epididymal cyst, ... |
OMIM:137920 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas... |
ORPHA:93111 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Postnatal growth retardation, Hirsutism, Stereotypical hand wringing, Long eyelashes, Short statu... |
OMIM:212066 |
| Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Absent eyebrow |
ORPHA:1897 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Hepatomegaly, Apl... |
ORPHA:456312 |
| Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair |
OMIM:301845 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Growth delay, Short stature, Sparse body hair, Alopecia |
ORPHA:177 |
| Myotonic Dystrophy 1 |
|
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy |
OMIM:160900 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Severe short stature, Sparse hair, Synophrys |
OMIM:616854 |
| Beck-Fahrner Syndrome |
|
Depression, Attention deficit hyperactivity disorder, Cardiomegaly, Joint hypermobility, Ventricu... |
OMIM:618798 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow |
ORPHA:59303 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Restlessness, Cardiomegaly, Abnormal concentration of acy... |
ORPHA:391428 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Rhizomelia, Abnormal toenail morphology, Sparse hair |
ORPHA:1515 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short stature, Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Sparse hair, Thin... |
ORPHA:1787 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... |
OMIM:232220 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Menkes Disease |
|
Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Alopecia |
OMIM:309400 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair |
OMIM:119580 |
| 19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Sparse or absent eyelashes, Cachexia, Growth delay, Failure to thrive, Sparse lat... |
ORPHA:217346 |
| Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Curly hair, Short stature, Sparse eyelashes, Absent eyebrow, Sparse hair |
OMIM:615280 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Intrauterine growth retardation, Small for gestational age, Sparse hair, Growth delay |
OMIM:610756 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... |
OMIM:201475 |
| Noonan Syndrome 6 |
|
Long eyebrows, Low posterior hairline, Curly hair, Short stature, Growth delay, Sparse hair |
OMIM:613224 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Joint hypermobility, Enuresis nocturna, Vesicouret... |
OMIM:301111 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral ref... |
OMIM:130650 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Athetosis, Short stature, Failure to thrive, Sparse hair, Intrauterine growth retardation |
OMIM:219150 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Absent eyebrow, Failure to thrive, Severe short stature, Sparse hair, Alopecia |
ORPHA:2316 |
| Bathing Suit Ichthyosis |
|
Alopecia, Nail dystrophy, Impaired temperature sensation, Sparse hair |
ORPHA:100976 |
| Tetrasomy 12P |
|
Short stature, Cachexia, Sparse eyebrow, Sparse hair |
ORPHA:884 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Trichothiodystrophy 1, Photosensitive |
|
Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Tiger tail banding, Trichoschisis... |
OMIM:601675 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Eunuchoid habitus, Obesity, Sparse body hair |
ORPHA:2234 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... |
OMIM:129400 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Irritability, Thin nail, Inability to walk, Short stature, Growth delay, Ataxia, Sparse hair, Bru... |
OMIM:617799 |
| Developmental And Epileptic Encephalopathy 95 |
|
Long nose, Hepatomegaly, Cryptorchidism, Arthrogryposis multiplex congenita, Inappropriate laught... |
OMIM:618143 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Short nose, Delayed epiphyseal ossification |
OMIM:613320 |
| Glass Syndrome |
|
Nail dysplasia, Broad-based gait, Hyperactivity, Frequent temper tantrums, Long eyelashes, Short ... |
OMIM:612313 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... |
OMIM:306955 |
| Auriculocondylar Syndrome 2B |
|
Postnatal growth retardation, Failure to thrive, Sparse hair, Synophrys |
OMIM:620458 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Acrocephalopolydactylous Dysplasia |
|
Short nose, Enlarged kidney, Hepatomegaly, Polysplenia, Craniosynostosis, Hepatic fibrosis, Pancr... |
OMIM:200995 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Atrial septal defect, Cholestasis, Biliary cirrhosis, Portal hypertension... |
OMIM:267010 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... |
OMIM:614941 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia |
OMIM:242300 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Cirrhosis, Hepatomegaly, Jaundice, Right atrial enlargement, Addictive a... |
ORPHA:57777 |
| Sickle Cell Disease |
|
Hepatomegaly, Hematuria, Jaundice, Cholelithiasis, Splenic infarction, Priapism, Splenomegaly, Ca... |
OMIM:603903 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Hypothyroidism, Left ventricular hypertrophy, C... |
OMIM:617713 |
| Bainbridge-Ropers Syndrome |
|
Inability to walk, Highly arched eyebrow, Hirsutism, Recurrent hand flapping, Long eyelashes, Gro... |
OMIM:615485 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Disproportionate short-limb short stature, Broad-based gait, Dysdiadochokinesis, Gait disturbance... |
OMIM:616541 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Short stature, Failure to thrive, Fragile nails, Sparse hair, Alopecia |
OMIM:242150 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen... |
OMIM:620642 |
| Lelis Syndrome |
|
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Sparse hair, A... |
ORPHA:140936 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, Broad-based gait, Emotional lability, Polyphagia, Sparse hair, Rest... |
ORPHA:251028 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... |
ORPHA:363705 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Sparse hair, Alopecia |
ORPHA:1839 |
| Rodrigues Blindness |
|
Short stature, Fine hair, Sparse hair |
OMIM:268320 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Failure to thrive, Sparse hair, Hyperconvex nail |
OMIM:619721 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Increased hepatic glycogen content, Depression, Cardiomyopathy, Card... |
OMIM:619259 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... |
ORPHA:85451 |
| Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Vesicoureteral reflux, Camptodactyly, Flexion contracture, Atrial septal... |
OMIM:605039 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Hypothyr... |
ORPHA:79330 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed pubic bone ossification, ... |
OMIM:618162 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... |
ORPHA:64744 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Postnatal growth retardation, Nail dysplasia, Short stature, Failure to thrive, Growth delay, Spa... |
OMIM:613026 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... |
OMIM:601346 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia |
ORPHA:69735 |
| Distal Deletion 12Q |
|
Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
| Jacobsen Syndrome |
|
Short nose, Annular pancreas, Hypospadias, Labial hypoplasia, Cryptorchidism, Clitoral hypoplasia... |
OMIM:147791 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis |
ORPHA:99931 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... |
ORPHA:116 |
| Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepa... |
OMIM:614921 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Reduced bone mineral density, Hyperactivity, Exocrine pancreatic insuffi... |
OMIM:617052 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Growth delay, Failure to thrive, Nail dystrophy, Sparse hair |
ORPHA:98813 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa... |
ORPHA:3253 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Macrovesicular hepatic steatosis, Long-chain... |
OMIM:608836 |
| Trisomy 8P |
|
Short nose, Annular pancreas, Abnormal left ventricle morphology, Multiple joint contractures, Dy... |
ORPHA:264450 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob... |
OMIM:614377 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Sparse scalp hair, Low posterior hairline, Gait ataxia, Growth delay, Failure to thrive... |
OMIM:601358 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Limited knee flexion/extension, Pollakisuria, Dysphagia, Right ventricula... |
ORPHA:268 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Revesz Syndrome |
|
Nail dystrophy, Broad-based gait, Nail pits, Ataxia, Ridged fingernail, Sparse hair, Intrauterine... |
OMIM:268130 |
| Joubert Syndrome 37 |
|
Short stature, Obesity, Sparse hair |
OMIM:619185 |
| Lesch-Nyhan Syndrome |
|
Podagra, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious behavior, Hyperuricosuria, ... |
OMIM:300322 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Hypoplasia of penis, Joint stiffness, Dysphagia, H... |
ORPHA:1606 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Postnatal growth retardation, Toenail dysplasia, Oral-pharyngeal dysphagia, Gait imbalance, Hirsu... |
OMIM:300966 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket... |
OMIM:255120 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Abnormal aortic valve morphology, Hepatomegaly, Reduced bone mineral de... |
ORPHA:581 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy, Cardiomegaly, Wide na... |
ORPHA:1517 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Patchy alopecia, Sparse hair |
OMIM:617763 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Sparse hair, Small nail |
OMIM:620601 |
| Lamellar Ichthyosis |
|
Short stature, Abnormality of the nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| ERI1-related disease |
|
Decreased body weight, Short stature, Failure to thrive, Low anterior hairline, Sparse hair, Anon... |
OMIM:608739 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Ectopic kidney, Pelvic kidney, Hypergonadotropic hypogonadism, Abnormal heart m... |
OMIM:227646 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal toenail morphology, Severe short stature, Sparse hair, Intrauterine growth retardation, ... |
ORPHA:1005 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic... |
OMIM:610199 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Fixed elbow flexion, Cholelithiasis, Limitation of joint mobility, Bilateral wr... |
ORPHA:97297 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... |
ORPHA:228308 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short stature, Fine hair, Sparse lateral eyebrow, Sparse hair |
OMIM:190351 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Joint hypermobility, Patent foramen ovale, Elbow flexion contr... |
OMIM:245600 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Leukonychia, Short stature, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair |
ORPHA:77258 |
| Meckel Syndrome |
|
Situs inversus totalis, Ureteral duplication, Accessory spleen, Pancreatic cysts, Asplenia, Crypt... |
ORPHA:564 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Large for gestational age, Loose anagen hair, Hyperactivity, Sparse scalp hair, Curly hair, Short... |
OMIM:607721 |
| Ruijs-Aalfs Syndrome |
|
Short stature, Premature graying of hair, Decreased body weight, Sparse hair |
OMIM:616200 |
| Aredyld Syndrome |
|
Cachexia, Short stature, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth... |
ORPHA:1133 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Sparse hair, Curly hair |
OMIM:619980 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis |
OMIM:614594 |
| Incontinentia Pigmenti |
|
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... |
OMIM:308300 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Nail dysplasia, Postnatal growth retardation, Premature graying of hair, Nail dystrophy, Short st... |
OMIM:612199 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Truncal obesity, Sparse hair, Thick eyebrow |
ORPHA:127 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... |
OMIM:263200 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Impotence, Increased urinary N-acetylglucosamine-rich oligosa... |
OMIM:268800 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Cryptorchidism, ... |
OMIM:229850 |
| Agel Amyloidosis |
|
Depression, Nail dystrophy, Ataxia, Sparse hair |
ORPHA:85448 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phal... |
OMIM:300967 |
| Gaucher Disease, Perinatal Lethal |
|
Short nose, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly, Arthrogrypos... |
OMIM:608013 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Hepatomegaly, Hypothyroidism, Diabetes mellitus, Achilles tendon contracture, Ex... |
OMIM:616263 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Sparse hair |
OMIM:268020 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Ifap Syndrome 2 |
|
Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Woolly hair, Sparse hair |
OMIM:619208 |
| Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Absent or minimally ossified vertebral... |
ORPHA:1190 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Joint hypermobility, Ventricular ... |
ORPHA:96191 |
| Pearson Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Splenomegaly, Dysphagia, Pancreatic fibrosis, Hepatic ... |
ORPHA:699 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Sparse scalp hair, Proportionate short stature, Sparse eyelashes, Sparse eyebrow, ... |
OMIM:234100 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Multiple renal cysts, ... |
ORPHA:1318 |
| Cartilage-Hair Hypoplasia |
|
Neonatal short-limb short stature, Sparse eyelashes, Sparse eyebrow, Absent pubertal growth spurt... |
OMIM:250250 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair |
OMIM:608615 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis, Dilated cardiomyopathy |
OMIM:208000 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Early ossification of capital femoral epiphyses, Pancreatic cysts, Renal cyst, Polycyst... |
OMIM:208500 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
| Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr... |
ORPHA:103918 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Ataxia, Sparse hair, Alopecia |
OMIM:127550 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Absent nipple, Sparse hair, Brittle hair |
OMIM:614940 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Sparse hair, Small nail |
OMIM:273400 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Abnormal thymus morphology, Cardiomegaly, Joint hypermobi... |
ORPHA:2463 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Intrauterine growth retardation, Fine hair, Athetosis, Sparse hair |
OMIM:614438 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Nail dysplasia, Breast hypoplasia, Rhizomelia, Small nail, Waddling gait, Growth delay, Failure t... |
OMIM:614813 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Postnatal growth retardation, Thick hair, Short stature, Failure to thrive, Sparse hair, Intraute... |
ORPHA:357074 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... |
OMIM:615710 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Rhizomelia, Patchy alopecia, Sparse eyelashes, Failure to thrive, S... |
OMIM:302960 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Urinary incontinence, Cardiomyopathy, Impotence |
OMIM:105210 |
| Short Syndrome |
|
Alopecia, Severe short stature, Weight loss, Sparse hair |
ORPHA:3163 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Fine hair, Abnormal fingernail morphology, Sparse hair |
ORPHA:1806 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Acute kidney injury, Proteinuria |
OMIM:618886 |
| Jacobsen Syndrome |
|
Short nose, Annular pancreas, Cryptorchidism, Aortic valve stenosis, Hydronephrosis, Attention de... |
ORPHA:2308 |
| Odontoonychodermal Dysplasia |
|
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ... |
OMIM:257980 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Macs Syndrome |
|
Decreased body weight, Short stature, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:613075 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nail dystrophy, Periungual erythema, Failure to thrive, Nailfold capillary tortuosity, Sparse hair |
OMIM:615934 |
| Alveolar Echinococcosis |
|
Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Bone cyst, Abnormal spleen mor... |
ORPHA:284 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... |
ORPHA:449432 |
| Schinzel-Giedion Syndrome |
|
Stiff elbow, Annular pancreas, Short nose, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality ... |
ORPHA:798 |
| Adams-Oliver Syndrome |
|
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Failure to thrive, Spars... |
ORPHA:974 |
| Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Hypoplastic fingernail, Sparse hair, Alopecia |
ORPHA:2457 |
| Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Slow-growing hair, Absent eyelashes, Low posterior hairline, Curly hair, Short ... |
OMIM:115150 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... |
OMIM:167800 |
| Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Irritab... |
OMIM:300855 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Thick hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:607626 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropic hypogonadism... |
OMIM:157640 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Hydroureter, Hypo... |
OMIM:265380 |
| Cardiofaciocutaneous Syndrome |
|
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal eye... |
ORPHA:1340 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Fractures of the long bones, Abnormal spleen morphology, Pericardial effusion, H... |
ORPHA:464329 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Biliary hyperplasia, Splenomegaly, Cardiomegaly, Joint hypermobility, He... |
OMIM:619991 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Short stature, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
| De Barsy Syndrome |
|
Postnatal growth retardation, Progressive cerebellar ataxia, Athetosis, Short stature, Failure to... |
ORPHA:2962 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Pancreatic fibrosis, Hepatic fibrosis, Ambiguous genitalia, Atrial s... |
OMIM:263520 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... |
ORPHA:1010 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology |
ORPHA:48818 |
| Oculodentodigital Dysplasia |
|
Brittle hair, Abnormality of the nail, Slow-growing hair, Gait disturbance, Curly hair, Abnormal ... |
ORPHA:2710 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Intrauterine growth retardation,... |
OMIM:613451 |
| Williams Syndrome |
|
Hypoplasia of penis, Pulmonic stenosis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, ... |
ORPHA:904 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Failure to thrive, Sparse eyelashes, Sparse hair, Fine hair |
OMIM:257850 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S... |
OMIM:268400 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Small nail, Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:250410 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Cryptorch... |
OMIM:616975 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
| Osteogenesis Imperfecta, Type Xx |
|
Disproportionate short-limb short stature, Highly arched eyebrow, Sparse lateral eyebrow, Sparse ... |
OMIM:618644 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Pili t... |
OMIM:225060 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:224900 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Noonan Syndrome 14 |
|
Low posterior hairline, Curly hair, Short stature, Sparse eyebrow, Sparse hair |
OMIM:619745 |
| Trichohepatoenteric Syndrome 1 |
|
Trichorrhexis nodosa, Brittle hair, Woolly hair, Curly hair, Short stature, Failure to thrive, Sp... |
OMIM:222470 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Pilomatrixoma, Compulsive beha... |
ORPHA:353281 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Testicular atrophy |
OMIM:613987 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Breast hypoplasia, Depression, Eunuchoid habitus, Sparse body hair |
ORPHA:432 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Severe intrauterine growth retardation, Short stature, Growth delay, Sparse hair, Int... |
OMIM:614114 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus, Shawl scrotum, Cryptorch... |
ORPHA:261265 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Ureteral duplication, Double ... |
ORPHA:2255 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... |
OMIM:305100 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Hepatomegaly, Hypercalciuria, 3-Methylglutaric aciduria, Macronodular cirrhosis, Exocri... |
OMIM:557000 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Growth delay, Alopecia, Sparse hair, Brittle hair |
OMIM:608612 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Sparse hair, Alopecia |
ORPHA:659 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Enlarged kidney, Hepatomegaly, Pathologic fracture, Limitation of joint mobility, Hyp... |
OMIM:252500 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Coarse hair, Alopecia |
OMIM:158310 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pancreatitis, Splenic cyst, Tracheomalacia, Patent foramen ovale, Hepatic sinusoidal dilatation, ... |
OMIM:620371 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Moderate postnatal growth retardation, Sparse hair |
OMIM:118650 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Intrahepatic bile duct dilatation, Global glomerulosclerosis, Hepatic cysts, St... |
OMIM:616307 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... |
ORPHA:308552 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Jaundice, Congenital hydrocele, Arthritis, Parotitis, Cholestasis, Hepatosplenomega... |
OMIM:620376 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Low posterior hairline, Curly h... |
OMIM:617506 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short stature, Ataxia, Small for gestational age, Sparse hair |
OMIM:300661 |
| Rothmund-Thomson Syndrome Type 1 |
|
Nail dysplasia, Sparse or absent eyelashes, Short stature, Growth delay, Attention deficit hypera... |
ORPHA:221008 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Feingold Syndrome 1 |
|
Annular pancreas, Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular ... |
OMIM:164280 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Marshall Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:560 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Broad nail, Short stature, Short nail, Sparse hair, Fine hair |
OMIM:614099 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Nail dystrophy, Aplastic/hypoplastic toenail, Abnormal eyelash morphol... |
ORPHA:1775 |
| Fucosidosis |
|
Hepatomegaly, Glycopeptiduria, Splenomegaly, Flexion contracture, Cardiomegaly, Oligosacchariduria |
OMIM:230000 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Sparse body hair |
ORPHA:3068 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Opitz-Kaveggia Syndrome |
|
Short stature, Sparse hair, Attention deficit hyperactivity disorder, Frontal upsweep of hair, Fi... |
OMIM:305450 |
| Weaver Syndrome |
|
Thin nail, Polyphagia, Deep-set nails, Sparse hair, Fine hair |
OMIM:277590 |
| Shwachman-Diamond Syndrome 2 |
|
Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Decreased body weight, Sparse hair |
OMIM:615349 |
| Cockayne Syndrome B |
|
Postnatal growth retardation, Severe failure to thrive, Abnormal hair morphology, Failure to thri... |
OMIM:133540 |
| Oculodentodigital Dysplasia |
|
Slow-growing hair, Fragile nails, Ataxia, Sparse hair, Fine hair, Dry hair |
OMIM:164200 |
| Aicardi-Goutières Syndrome |
|
Irritability, Arthritis, Hypertrophic cardiomyopathy, Hypothyroidism, Prolonged neonatal jaundice... |
ORPHA:51 |
| Kid Syndrome |
|
Postnatal growth retardation, Trichilemmoma, Nail dystrophy, Scarring alopecia of scalp, Sparse e... |
ORPHA:477 |
| Hallermann-Streiff Syndrome |
|
Abnormality of hair texture, Proportionate short stature, Sparse eyelashes, Sparse body hair, Spa... |
ORPHA:2108 |
| Gapo Syndrome |
|
Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Growth delay, Sparse eyelashes, Sparse ey... |
OMIM:230740 |
| Papillon-Lefèvre Syndrome |
|
Nail dystrophy, Abnormality of the nail, Abnormal fingernail morphology, Sparse body hair, Genera... |
ORPHA:678 |
| X-Linked Intellectual Disability, Snyder Type |
|
Ectopic kidney, Hypospadias, Recurrent fractures, Abnormality of the Leydig cells, Osteoporosis, ... |
ORPHA:3063 |
| Generalized Arterial Calcification Of Infancy |
|
Irritability, Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Ventricular hyper... |
ORPHA:51608 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... |
ORPHA:1071 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Postnatal growth retardation, Trichiasis, Abnormal fear-induced behavior, Highly arched eyebrow, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Postnatal growth retardation, Trichiasis, Abnormal fear-induced behavior, Highly arched eyebrow, ... |
ORPHA:353277 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine... |
ORPHA:892 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocell... |
OMIM:618278 |
| Craniolenticulosutural Dysplasia |
|
Short stature, Coarse hair, Sparse hair, Brittle hair |
ORPHA:50814 |
| Scarf Syndrome |
|
Hypoplastic nipples, Low posterior hairline, Sparse hair |
ORPHA:3134 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Osteoporosis, Flexion contracture, Dysphagia, Left ven... |
ORPHA:365 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,... |
OMIM:106260 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Failure to thrive, Sparse hair |
OMIM:615508 |
| Abetalipoproteinemia |
|
Osteopenia, Cirrhosis, Hepatomegaly, Hypothyroidism, Cardiomegaly, Hepatic fibrosis, Hepatic stea... |
ORPHA:14 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Cerebellar-Facial-Dental Syndrome |
|
Failure to thrive, Sparse eyebrow, Severe short stature, Sparse hair, Fine hair, Infancy onset sh... |
ORPHA:444072 |
| Stuve-Wiedemann Syndrome 1 |
|
Impaired pain sensation, Short stature, Dysphagia, Sparse hair, Intrauterine growth retardation |
OMIM:601559 |
| Down Syndrome |
|
Delayed puberty, Impaired pain sensation, Gait disturbance, Short stature, Obesity, Sparse hair |
ORPHA:870 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Broad-based gait, Highly arched eyebrow, Hypoplastic nipples, Gait ata... |
OMIM:280000 |
| Nablus Mask-Like Facial Syndrome |
|
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L... |
OMIM:608156 |
| Steinert Myotonic Dystrophy |
|
Impotence, Aggressive behavior, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:273 |
| Rothmund-Thomson Syndrome |
|
Nail dysplasia, Small nail, Abnormality of the nail, Short stature, Sparse eyelashes, Sparse eyeb... |
ORPHA:2909 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Tracheobronchomalacia, Abnormal heart morphology, Tetralogy of Fallot, Partial an... |
ORPHA:95430 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... |
ORPHA:731 |
| Hamamy Syndrome |
|
Abnormal number of hair whorls, Low posterior hairline, Sparse eyelashes, Sparse lateral eyebrow,... |
OMIM:611174 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Postnatal growth retardation, Highly arched eyebrow, Low posterior hairline, Short stature, Failu... |
OMIM:613563 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect |
ORPHA:137675 |
| Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen |
ORPHA:1305 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Distal sensory impairment, Dysdiadochokinesis, Sparse scalp hair, Gait ataxia, Failure to thrive,... |
OMIM:606721 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Growth delay, Abnormal eyebrow morphology,... |
ORPHA:2232 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, Short stature, Low anterior hairline, Sparse hair |
OMIM:272950 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... |
ORPHA:3384 |
| Myhre Syndrome |
|
Short stature, Obesity, Ataxia, Thick eyebrow, Sparse hair, Intrauterine growth retardation, Fine... |
OMIM:139210 |
| Cockayne Syndrome A |
|
Severe postnatal growth retardation, Gait disturbance, Short stature, Failure to thrive, Ataxia, ... |
OMIM:216400 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Attention deficit hyperactivity disorder, Sparse hair |
OMIM:619934 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Absent sternal ossification, Renal artery stenosis, Cardiomyop... |
ORPHA:3472 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Nail dystrophy, Difficulty walking, Short stature, Failure to thrive, Sparse hair, Alopecia unive... |
ORPHA:158668 |
| Scarf Syndrome |
|
Hypoplastic nipples, Low anterior hairline, Low posterior hairline, Sparse hair |
OMIM:312830 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Joint stiffness, Secundum atrial septal defect, Flexio... |
OMIM:609069 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid... |
OMIM:193300 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Decreased body weight, Synophrys, Short stature, Failure to ... |
OMIM:602535 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... |
OMIM:260370 |
| Scalp-Ear-Nipple Syndrome |
|
Nail dysplasia, Breast aplasia, Patchy alopecia, Short stature, Sparse pubic hair, Sparse axillar... |
OMIM:181270 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Failure to thrive, Sparse eyebrow, Sparse hair |
OMIM:244450 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Sparse scalp hair, Long eyelashes, Sparse lateral eyebrow, Short stature, ... |
OMIM:619841 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint hypermobility, Annular pancreas, Hip contracture, Knee flexion contracture |
ORPHA:488642 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Aplasia of the sweat glands, Sparse scalp hair, Sparse hair |
OMIM:612132 |
| Craniolenticulosutural Dysplasia |
|
Short stature, Coarse hair, Sparse hair, Brittle hair |
OMIM:607812 |
| Tooth Agenesis, Selective, 4 |
|
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,... |
OMIM:150400 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Abnormality of the hepatic vasc... |
ORPHA:1677 |
| Leprosy |
|
Steppage gait, Loss of eyelashes, Impaired temperature sensation, Alopecia, Dissociated sensory l... |
ORPHA:548 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Chronic pancreatitis, Stage 5 chronic kidney disease, Pancreatic cysts, Renal c... |
OMIM:613159 |
| Rothmund-Thomson Syndrome Type 2 |
|
Nail dysplasia, Sparse or absent eyelashes, Short stature, Growth delay, Sparse hair, Aplasia/Hyp... |
ORPHA:221016 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Sparse eyebrow, Sparse ... |
ORPHA:175 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Flexion contracture... |
OMIM:256040 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys |
OMIM:609460 |
| Menkes Disease |
|
Hypopigmentation of hair, Chorea, Woolly hair, Sparse hair, Intrauterine growth retardation |
ORPHA:565 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Sparse hair |
OMIM:601812 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Lysinuric Protein Intolerance |
|
Short stature, Failure to thrive, Sparse hair, Fine hair, Truncal obesity |
OMIM:222700 |
| Woodhouse-Sakati Syndrome |
|
Fine hair, Choreoathetosis, Sparse hair, Alopecia |
OMIM:241080 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Growth delay, Abnormal hair pattern, Sparse ... |
ORPHA:920 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Ataxia, Sparse hair, Coarse hair, Alopecia |
ORPHA:2750 |
| Neurocardiofaciodigital Syndrome |
|
Short stature, Failure to thrive, Sparse eyebrow, Sparse hair, Small for gestational age |
OMIM:619869 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Nail dysplasia, Hypoplastic nipples, Sparse scalp hair, Sparse eyelashes, Nail pits, Sparse eyebr... |
OMIM:129900 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Nail dystrophy, Alopecia of scalp, Absent eyebrow, Sparse hair, Intrauterine growth retardation |
ORPHA:436252 |
| Primrose Syndrome |
|
Delayed puberty, Dystrophic fingernails, Sparse scalp hair, Tics, Synophrys, Short stature, Spars... |
OMIM:259050 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Nail dysplasia, Loss of ambulation, Unsteady gait, Motor stereotypy, Sparse hair |
OMIM:616682 |
| Orofaciodigital Syndrome I |
|
Short stature, Alopecia, Sparse hair, Dry hair |
OMIM:311200 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Aplasia of the eccrine sweat glands, Sparse hair |
OMIM:300291 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Intrauterine growth retardation, Failure to thrive, Short stature, Sparse hair |
OMIM:151050 |
| Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Thin nail, Slow-growing hair, Short nail, Sparse hair, Fine hair |
OMIM:218330 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hypoplastic fingernail, Hyperconvex fingernails, Abnormal hair morphology, Abnormality of the nai... |
ORPHA:2273 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Disproportionate short stature, Severe postnatal growth retardation, Sparse scalp hai... |
OMIM:210710 |
| Atypical Werner Syndrome |
|
Delayed puberty, Premature graying of hair, Abnormal hair morphology, Abnormal hair quantity, Dec... |
ORPHA:79474 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Nail dystrophy, Small nail, Hypoplastic nipples, Absent nipple, Short stature, Sparse eyebrow, Sp... |
OMIM:620186 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Short stature, Failure to thrive, Sparse body hair, Sparse pubic hair, Sparse ax... |
ORPHA:90796 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Severe postnatal growth retardation, Sparse hair |
OMIM:620005 |
| Wrinkly Skin Syndrome |
|
Postnatal growth retardation, Progressive cerebellar ataxia, Short stature, Failure to thrive, Sp... |
ORPHA:2834 |
| Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:613610 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Costello Syndrome |
|
Thin nail, Curly hair, Short stature, Failure to thrive, Deep-set nails, Fragile nails, Sparse ha... |
OMIM:218040 |
| Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, Hirsutism, Severe intrauterine growth retardation, Sparse scalp hair, Synophrys, ... |
ORPHA:3455 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Postnatal growth retardation, Nail dystrophy, Short stature, Sparse eyebrow, Sparse hair |
OMIM:619127 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short stature, Failure to thrive, Obesity, Frontal hirsutism, Sparse hair, Intrauterine growth re... |
OMIM:617157 |
| Roberts Syndrome |
|
Postnatal growth retardation, Severe intrauterine growth retardation, Sparse hair |
ORPHA:3103 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... |
ORPHA:75565 |
| Focal Dermal Hypoplasia |
|
Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Absent fingernail... |
OMIM:305600 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Mitral valve calcification, Osteopor... |
OMIM:182250 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Severe short stature, Thin eyebrow, Sparse hair, Intrauterine growth retardati... |
ORPHA:2636 |
| Chime Syndrome |
|
Fine hair, Sparse hair |
ORPHA:3474 |
| Renpenning Syndrome 1 |
|
Short stature, Sparse lateral eyebrow, Sparse hair, Brittle hair |
OMIM:309500 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Sparse hair, Breast aplasia |
ORPHA:2036 |
| Trichothiodystrophy |
|
Osteopenia, Gonadal dysgenesis, Multiple joint contractures, Increased bone mineral density, Card... |
ORPHA:33364 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Alopecia of scalp, Sparse scalp hair, Growth delay, Fragile nails, Thick eyebrow, Sparse hair, Mi... |
OMIM:150230 |
| Wrinkly Skin Syndrome |
|
Short stature, Failure to thrive, Short nail, Fragile nails, Sparse hair, Intrauterine growth ret... |
OMIM:278250 |
| Restrictive Dermopathy |
|
Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, Short nail, Sparse e... |
ORPHA:1662 |
| Ablepharon-Macrostomia Syndrome |
|
Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair |
OMIM:200110 |
| Branchiooculofacial Syndrome |
|
Premature graying of hair, Postnatal growth retardation, Hypoplastic fingernail, Low posterior ha... |
OMIM:113620 |
| Pallister-Killian Syndrome |
|
Stillbirth, Rhizomelia, Inability to walk, Mesomelic/rhizomelic limb shortening, Sparse anterior ... |
OMIM:601803 |
| Menke-Hennekam Syndrome 1 |
|
Thick eyebrow, Sparse hair, Long eyelashes |
OMIM:618332 |
| Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Stillbirth, Severe intrauterine growth retardation, Sparse hair |
OMIM:268300 |
