Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Acrokeratosis, Sparse eyebrow |
OMIM:620199 |
Dermoodontodysplasia |
|
Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Thin skin... |
ORPHA:1660 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Dermoodontodysplasia |
|
Dry skin, Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa... |
ORPHA:2348 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Xanthomatosis, Acanthosis nigricans, Hepatic steatosis, Generalized hirsutism,... |
ORPHA:79083 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
|
Distichiasis, Low-set ears, Sparse lateral eyebrow |
OMIM:136500 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Wide nasal bridge, Skin dimple, Thin skin, Sparse hair, Macrotia, Aplasia/Hypoplasia... |
ORPHA:261304 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morpho... |
ORPHA:1818 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin... |
ORPHA:2500 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy |
|
Absent eyelashes, Absent eyebrow, Absent hair |
OMIM:308830 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Hirsutism, Upslanted palpebral fissure, Long eyelashes, Horizontal eyebrow, Low-set ears, Thick e... |
OMIM:618608 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryp... |
ORPHA:75496 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Dystrophic fing... |
OMIM:602401 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Dry skin, Na... |
ORPHA:2890 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl... |
ORPHA:163934 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin, Fr... |
OMIM:617364 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule, Type II diabetes mellitus, Generalized hirsutism |
ORPHA:2297 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Palmoplan... |
ORPHA:89838 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair... |
ORPHA:1807 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin |
ORPHA:1810 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Acroosteolysis of distal phalanges (feet), Premature graying of hair, Increased intraabdominal fa... |
ORPHA:280365 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, ... |
ORPHA:1979 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Wide nasal bridge, Fin... |
ORPHA:978 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dry skin, Dystrophic fingernails, ... |
OMIM:150400 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Camptodactyly of finger, Hypopigmented skin patches, Protruding ear, Fingernail dysplas... |
ORPHA:2251 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Testicular mass, ... |
ORPHA:548 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,... |
OMIM:606242 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Abnormal t... |
ORPHA:202 |
Griscelli Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Silver-gray hair, Large clumps of pigment irregularly distributed... |
OMIM:214450 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome |
|
Absent eyelashes, Absent eyebrow |
ORPHA:2339 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes |
ORPHA:2821 |
Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Dry skin, Protruding... |
ORPHA:317 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:129490 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... |
OMIM:275400 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, N... |
ORPHA:79397 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... |
ORPHA:1133 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Proteus Syndrome |
|
Epidermal nevus, Splenomegaly, Facial hyperostosis, Multiple lipomas, Hyperkeratosis, Calvarial h... |
OMIM:176920 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Atypical scarring of skin, Conjunc... |
OMIM:263700 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... |
ORPHA:2028 |
Quinquaud Folliculitis Decalvans |
|
Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Erythematous plaque, Thin skin, Dermal atro... |
ORPHA:158673 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti |
OMIM:607903 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Hearing impairment, Cryptorchidism, Fine hair, Sparse or absent eyelashes, ... |
ORPHA:217346 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hy... |
ORPHA:69125 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... |
ORPHA:525 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Sparse eyebrow, Erythema, Papule, Comedo |
OMIM:604093 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Protruding ear |
OMIM:278200 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Dystonia, Failure to thrive |
ORPHA:67046 |
Progeroid Syndrome, Petty Type |
|
Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair,... |
ORPHA:2963 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Ename... |
ORPHA:79402 |
Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a... |
ORPHA:742 |
Distichiasis |
|
Distichiasis |
OMIM:126300 |
Tristichiasis |
|
Three rows of eyelashes |
OMIM:190800 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin,... |
ORPHA:2584 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Synophrys, Flexion contracture, Low anterior hairline, Wide nasal bridge, Absent toen... |
OMIM:618658 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hearing impai... |
OMIM:129400 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... |
ORPHA:1366 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H... |
ORPHA:129 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Severe sensorineural h... |
ORPHA:79499 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
Trichomegaly |
|
Long eyelashes |
OMIM:190330 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Flexion contractu... |
OMIM:614438 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, D... |
ORPHA:89843 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot |
OMIM:618625 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey... |
ORPHA:1812 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Abnormal odontoid tissue morphology |
ORPHA:401911 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Onycholysis, Nail dyst... |
OMIM:224750 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nasolacrimal duct obstruction,... |
OMIM:103285 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Macrotia, Sparse body hair, Aplasia/Hypoplasia ... |
ORPHA:2850 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin |
OMIM:212360 |
Ulerythema Ophryogenesis |
|
Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Hyperkeratotic papule, Sparse lat... |
ORPHA:3406 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Epicanthus, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hepatoerythropoietic Porphyria |
|
Scarring, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic blepha... |
ORPHA:95159 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... |
ORPHA:2325 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Acrokeratosis Verruciformis |
|
Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hyperkeratosis |
OMIM:101900 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, Low-set ears, Sparse hair, Ptosis |
OMIM:615278 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Thickened skin, Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Preauricular pit, Absent lacrimal punctum, Sacral dimple, Hypoplastic lacrimal duct, Cryptorchidi... |
OMIM:273390 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Posteriorly rotated ears, Low anterior hairline, Upper eyelid edema, Protruding ea... |
OMIM:616819 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... |
OMIM:104100 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Upper limb muscle wea... |
ORPHA:309169 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Inguinal hernia, Cryptorchidism, Hypertrichosis, Long eyelashes, Thick eyebrow... |
OMIM:618362 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Long eyel... |
OMIM:617126 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Conjunct... |
OMIM:612843 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Hypermelanotic macule, Adipose tissue loss, Hyperinsulinemia, Acanthosis... |
OMIM:246200 |
Recon Progeroid Syndrome |
|
Attached earlobe, Hyperconvex thumb nails, Absent lower eyelashes, Keratoconjunctivitis sicca, Mi... |
OMIM:620370 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex ... |
ORPHA:257 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Sparse eyelashes, Cupped ear, Wide nasal bridge, Lower eyelid colobom... |
OMIM:616367 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Blepharitis, Spars... |
OMIM:618535 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Flexion contracture, Large fleshy... |
OMIM:203550 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Scaling skin, Sparse hair, Alopecia of scalp, D... |
OMIM:604536 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Craniodigital-Intellectual Disability Syndrome |
|
Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Generalized hirsutism, Thick eyebrow |
ORPHA:1514 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Th... |
ORPHA:1899 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Blepharo... |
ORPHA:3051 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circ... |
ORPHA:42 |
Piebald Trait-Neurologic Defects Syndrome |
|
Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Senso... |
ORPHA:2885 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:411593 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Axial hypotonia, Hypoglycemia, Hypertonia, Failure to thrive, Anemia |
OMIM:610090 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti... |
ORPHA:90153 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cachexia, Bone cyst, Skin ulcer, Dermal atrophy, Type II diabe... |
ORPHA:2047 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Cutis laxa, Thin skin, Low-set ears, Sparse hair, Umbilical hern... |
OMIM:219150 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypopla... |
ORPHA:100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Subcutaneous nodule, Hearing impairment |
ORPHA:337 |
Hypertrichosis Cubiti |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2220 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Small nail, Nail dysplasia, Sparse hair... |
OMIM:119580 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati... |
OMIM:615895 |
Rombo Syndrome |
|
Abnormal eyelash morphology, Abnormal eyebrow morphology |
OMIM:180730 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Absent eyebrow, Alopecia totalis, Hypermelanotic... |
ORPHA:740 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Posteriorly rotated ears, Long nose, Cryptorchidism, Loss of eyelashes, Abnormal tragus... |
ORPHA:2636 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Epicanthus, Posteriorly rotated ears, Prominent crus of helix, Synophrys, Widow's peak, Upper eye... |
OMIM:617804 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Underfolded helix, Abnormal hair pattern, Highly arched eyebrow, S... |
ORPHA:178303 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Abnormal hair pattern, Redundan... |
ORPHA:920 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Hearing impairment, Salivary gland neoplasm, Skin-colored papule, Skin n... |
ORPHA:79493 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Limb dystonia, Slender build |
OMIM:128101 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hyperkeratosis, Hypomelan... |
ORPHA:79399 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia |
OMIM:609016 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Inguinal hernia, Redundant skin, Hearing impairment, Abnormal eyelash mo... |
ORPHA:1252 |
Noonan Syndrome 6 |
|
Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Sensorineural hearing im... |
OMIM:613224 |
Dystonia 30 |
|
Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia |
OMIM:619291 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Wide nasal bridge, Thin eyebrow, Downslant... |
OMIM:617392 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Thenar muscle atrophy, Flexion contracture, Thin skin, Failure to thrive |
ORPHA:157965 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Gand Syndrome |
|
Sparse hair, Narrow palpebral fissure, Wide nasal bridge, Blepharophimosis |
OMIM:615074 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Coarse hair, Thickened helices, Sparse hair, Preauricular pit, Highly arched eyebrow, Cryptorchid... |
OMIM:617506 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Conductive hearing impairment, Sparse body hair, Aplasi... |
ORPHA:1006 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Posteriorly rotated ears, Abnormal eyelid morph... |
ORPHA:1787 |
Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia, Histiocytosis |
ORPHA:139436 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Severe muscular hypotonia, Elevated circulating creatine kin... |
ORPHA:300179 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis |
ORPHA:735 |
Congenital Erythropoietic Porphyria |
|
Scarring, Increased connective tissue, Scarring alopecia of scalp, Loss of eyelashes, Keratoconju... |
ORPHA:79277 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thickened skin, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Distal Duplication 6P |
|
Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Aplasia/Hypoplasia of the ear... |
ORPHA:1745 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,... |
ORPHA:69735 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule |
OMIM:244850 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Abnormal toenail morphology, Abnormality of the nail,... |
ORPHA:494 |
Glass Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Long nose, Long eyelashes, Thin skin, Nail dysplasia, ... |
OMIM:612313 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia, Cachexia |
ORPHA:1216 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Hypopigmented skin patches, Pre... |
OMIM:613265 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Hypotonia, Myopathy |
ORPHA:157973 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Epidermoid cyst, Abnormal eyelid morphology, Ectropion of lower eyelids, ... |
ORPHA:1997 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair |
ORPHA:1174 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Epicanthus, Hearing impairment, Sparse eyebrow, Low-set ears, Sparse hair, Downslanted palpebral ... |
OMIM:619989 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Telecanthus, Abnormal pinna morphology, Synophrys, Low anterior hairline, Long ey... |
OMIM:615859 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Skeletal muscle atrophy, Muscle fiber atrophy, Cachexia, H... |
ORPHA:300605 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Synophrys, Widow's peak, Sensorineural hearing impairment, Long eyelashes, Anonych... |
OMIM:616455 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Lower limb muscle weakness, Dystonia |
OMIM:619681 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ... |
ORPHA:90154 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... |
ORPHA:90156 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Conductive hearing impairment, Protruding ear, Multip... |
ORPHA:2316 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... |
ORPHA:79474 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Papule |
ORPHA:1336 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Th... |
ORPHA:3242 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Osteoporosis, Hypotonia, I... |
ORPHA:369 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contracture |
OMIM:615704 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity |
OMIM:619687 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyelashes, Absent eyebrow |
OMIM:182815 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly, Hypotonia, Dystonia |
ORPHA:139406 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomega... |
ORPHA:77297 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Tremor,... |
ORPHA:363400 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Dystonia, Arthrogryposis multiplex congenita, Thick eyebrow |
ORPHA:85278 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Synophrys, Low anterior hairline, ... |
OMIM:618828 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, Long palpebral fissure, Dry skin, ... |
OMIM:600906 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Sparse body hair |
ORPHA:85274 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconj... |
OMIM:234050 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Orbital cyst, Eyelid coloboma |
OMIM:164180 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Albinism, Synophrys, Sensorineural hearing impairment, Wide nasal... |
OMIM:193510 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment |
ORPHA:123 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Epicanthus, Alopecia, Brittle hair, Wide nasal bridge, Upslanted palpebral fissure |
ORPHA:50812 |
Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... |
OMIM:269880 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinna morphology, Redundant ski... |
ORPHA:1231 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Focal Facial Dermal Dysplasia Type Ii |
|
Abnormal pinna morphology, Trichiasis, Sparse eyebrow, Absent earlobe, Ectropion of lower eyelids... |
ORPHA:398173 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Hypo... |
OMIM:618373 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Omphalo... |
OMIM:200110 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increase... |
OMIM:232700 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Ptosis |
ORPHA:1067 |
Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Long eyelashes, Wide nasal bridge, Highly arched eyebrow |
ORPHA:411493 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Hypotonia, Weight loss, Generalized hypotonia, Slender build |
OMIM:613662 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Blepharophimosis, Sparse ... |
OMIM:613026 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Striae distensae, Impaired glucose tolerance, Pituitary adenoma, Osteopo... |
OMIM:219090 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Myopathy, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis, Infan... |
ORPHA:26792 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebro... |
ORPHA:897 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h... |
ORPHA:171706 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... |
ORPHA:3437 |
Mehmo Syndrome |
|
Axial hypotonia, Small for gestational age, Decreased response to growth hormone stimulation test... |
OMIM:300148 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Cogwheel rigidity, Hypertonia, Dystonia, Decreased body weight, Spastic gait |
OMIM:618284 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Dystonia, Hypertrichosis |
OMIM:618244 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae |
OMIM:225310 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Prolonge... |
ORPHA:446 |
Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ectropion |
OMIM:242510 |
Fetal Encasement Syndrome |
|
Omphalocele, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Protruding ear, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Epicanthus |
OMIM:618724 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Hearing impairment, Abnorm... |
ORPHA:894 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Macule, Alopecia, Entropion, Hypermelanotic macule, Hearing impairme... |
ORPHA:910 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Microtia, Sparse hair, Aplasia cutis congenita, Short nose |
OMIM:616854 |
Tietz Albinism-Deafness Syndrome |
|
Congenital sensorineural hearing impairment, White eyelashes, White eyebrow |
OMIM:103500 |
Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia, Increased muscle glycogen content, Increased... |
OMIM:261750 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Dry skin, Sparse body hair |
ORPHA:177 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Hypotonia, Decreased liver function, Spasticity, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Short nose, Generalized hirsutism, Thin skin |
ORPHA:561 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Thickened skin, Skin nodule, Osteoporosis, Palmoplantar hyperkera... |
OMIM:601812 |
Progressive Nodular Histiocytosis |
|
Cachexia, Subcutaneous nodule, Papule |
ORPHA:158022 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Conjunctivitis, Na... |
OMIM:308800 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Abnormal pinna morphology, Blepharophimosis, Sparse eyebrow, Upslanted p... |
OMIM:244450 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged... |
ORPHA:298 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
Piebaldism |
|
Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nas... |
ORPHA:2884 |
Smith-Kingsmore Syndrome |
|
Curly hair, Hypoglycemia, Diastasis recti, Large for gestational age, Cryptorchidism, Wide anteri... |
OMIM:616638 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Hypomelanosis Of Ito |
|
Epicanthus, Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
De Barsy Syndrome |
|
Epicanthus, Inguinal hernia, Lipodystrophy, Cryptorchidism, Cutis laxa, Large earlobe, Excessive ... |
ORPHA:2962 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Monosomy 18P |
|
Epicanthus, Alopecia, Wide nasal bridge, Low posterior hairline, Protruding ear, Abnormal antihel... |
ORPHA:1598 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... |
OMIM:612350 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Horner syndrome, Patchy alopecia, Microtia, Blepharophimosis |
OMIM:141300 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Appendicul... |
OMIM:616801 |
Non-Distal Duplication 13Q |
|
Abnormal fingernail morphology, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Hypoplast... |
ORPHA:1702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Posteriorly rotated ears, Wide nasal bridge, Thin skin, Low-set ears |
OMIM:201170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Focal Dermal Hypoplasia |
|
Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e... |
ORPHA:2092 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Dystonia, Sp... |
OMIM:610329 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Epicanthus, Alopecia, Hyperpigmented papule, Flexion contracture, Camptodactyly |
ORPHA:88630 |
Ramon Syndrome |
|
Diabetes mellitus, Abnormal dental enamel morphology, Osteolysis, Hyperkeratosis, Failure to thri... |
ORPHA:3019 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, S... |
ORPHA:100976 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Lymphadenopathy... |
ORPHA:2221 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity |
ORPHA:77260 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Wide nasal bridge,... |
ORPHA:3253 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Purpura |
ORPHA:745 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Hypopigmented skin patches, Pre... |
OMIM:277580 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Protruding ear, Narrow palpebral fissure, Small nail, Low-set ea... |
OMIM:614219 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Posteriorly rotated ears, Synophrys, Wide nasal bridge, Low posterior hairline, Upslanted palpebr... |
OMIM:619320 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Tremor, Thrombocytopenia, Osteoporosis, Fine hair, Premature graying of hair, Thin sk... |
OMIM:612199 |
Hypoglycemia, Leucine-Induced |
|
Spasticity, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Low-set, posteriorly rotated ears, Thick eyebrow, Palpebral edema, Highly arched eyebrow, Low ant... |
ORPHA:466688 |
Dyschromatosis Symmetrica Hereditaria |
|
Macule, Torsion dystonia |
ORPHA:41 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Camptodactyly, Joint contracture of the hand |
OMIM:225280 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf... |
ORPHA:1010 |
Silver-Russell Syndrome 2 |
|
Thin skin, Neonatal hypoglycemia |
OMIM:618905 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia, Spasticity, Failu... |
OMIM:618276 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, lin... |
OMIM:300887 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Wide nasal bridge, Upper eyelid colob... |
OMIM:613456 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... |
OMIM:167320 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Dystonia, Neonatal death,... |
OMIM:618186 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair |
OMIM:227010 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Axial hypotonia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Failure to thrive |
OMIM:612075 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Epicanthus, Synophrys, Protruding ear, Long eyelashes, Low-set ears, Lipoma, Downslanted palpebra... |
ORPHA:480907 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Osteoporosis, Truncal obesity, Macronod... |
OMIM:219080 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperin... |
OMIM:262190 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Erythema, Skin ulcer,... |
ORPHA:659 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... |
OMIM:601345 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Enamel hypoplasia, Macrotia |
OMIM:613576 |
Necrobiosis Lipoidica |
|
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Annular cutaneous lesion, Sk... |
ORPHA:542592 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Abnormal helix morphology, Sparse hair, Dry skin, Abnormality of the nai... |
ORPHA:313 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... |
ORPHA:824 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... |
ORPHA:100024 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Follicular hy... |
ORPHA:79100 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Decreased testicular size, Sparse body hair |
ORPHA:261483 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... |
ORPHA:2199 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair shafts flat... |
OMIM:262000 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Downslant... |
OMIM:300590 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Decreased liver function, D... |
OMIM:246900 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st... |
OMIM:615280 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Epicanthus, Alopecia, Posteriorly rotated ears, Supernumerary nipple, Sensorineural hearing impai... |
ORPHA:3224 |
Werner Syndrome |
|
Sparse scalp hair, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodyst... |
ORPHA:902 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Melanocytic nevus, Small p... |
OMIM:612079 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Tremor, Hypotonia, Limb muscle weakness |
ORPHA:97229 |
Rapadilino Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Narrow palpebral fissure, Blepharophimosis, ... |
OMIM:266280 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Osteoporosis, Long eyelashes, Intent... |
ORPHA:48431 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion |
OMIM:242300 |
Man1B1-Cdg |
|
Epicanthus, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Wide nasal bridge, Cu... |
ORPHA:397941 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Absent eyelashes, Absent eyebrow, Short nose |
OMIM:200130 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Small for gestational age, Diastasis recti, Decreased body weight, Nevus flammeus, ... |
ORPHA:231140 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Telecanthus, Blepharophimosis, Synophrys, Achilles tendon contracture, Wide nasal bridge, Sparse ... |
OMIM:611091 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Decreased calvarial ossification, Stillbirth, Thin skin |
OMIM:259410 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia, Generalized hirsutism, Elevated circulating creatine kinase co... |
ORPHA:1933 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... |
ORPHA:166113 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Protruding ear, Fine hair, Keratoconjunctivitis sicca... |
ORPHA:1806 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
Orofacial Cleft 15 |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Ectropion of lower eyelids, Protrud... |
OMIM:616788 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Posteriorly rotated ears, Flexion contracture, Protruding ear, Low-set ears, Sparse hair, Downsla... |
OMIM:620001 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Dense calvaria, Limb dystonia |
ORPHA:306741 |
Blepharonasofacial Malformation Syndrome |
|
Facial palsy, Torsion dystonia |
OMIM:110050 |
Scarf Syndrome |
|
Epicanthus, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Wid... |
OMIM:312830 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Epicanthus, Prominent antitragus, Protruding ear, Large earlobe, Long eyela... |
OMIM:620191 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Spastic tetraplegia, Myopathy, Generalized hypotonia, Dystonia, Neonatal dea... |
OMIM:618237 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hearing impa... |
ORPHA:1647 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Weight loss |
ORPHA:79238 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Upslanted palpebral fissure, Alopecia, Flexion contracture, Sensorineural hearing impairment |
OMIM:215100 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Long nose, Cryptorchidism, Upslan... |
OMIM:617602 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, Generalized hirsutism, Brow ptosis, Highly arched eyebrow, Crypt... |
OMIM:605130 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia |
OMIM:615010 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Upslant... |
ORPHA:75389 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Small for gestational age, Hypoglycemia, Generalized hypotonia, Neutropenia, Spa... |
OMIM:618253 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... |
OMIM:300559 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Paronychia, Eryth... |
ORPHA:37 |
Baralle-Macken Syndrome |
|
Hirsutism, Obesity, Acanthosis nigricans, Dystonia, Neonatal hypotonia, Spasticity, Cafe-au-lait ... |
OMIM:619255 |
Radio-Tartaglia Syndrome |
|
Synophrys, Low anterior hairline, Conductive hearing impairment, Highly arched eyebrow, Wide nasa... |
OMIM:619312 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Thick eyebrow, Posteriorly rotated ears, Highly arched eyebrow, Long eyelashes, Poste... |
OMIM:613684 |
Cushing Disease |
|
Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Impaired glucos... |
ORPHA:96253 |
Spinocerebellar Ataxia 48 |
|
Tremor, Cachexia, Dystonia |
OMIM:618093 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Alopecia, Psoriasiform dermatitis, Myositis, Autoimmune hemolytic ... |
ORPHA:37042 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... |
OMIM:606721 |
Hereditary Acrokeratotic Poikiloderma |
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Camptodactyly of finger, Hearing impairment, Erythema, Hypopigmented skin patches, Skin ulcer, Ke... |
ORPHA:2907 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Scarf Syndrome |
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Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Cryptorchidism, Low posterior hai... |
ORPHA:3134 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Coffin-Siris Syndrome 5 |
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Sparse scalp hair, Thick eyebrow, Hypoplastic toenails, Low anterior hairline, Long eyelashes, Dy... |
OMIM:616938 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Failure to thrive, Hepatic steatosis |
OMIM:617872 |
Wolman Disease |
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Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia |
ORPHA:75233 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Anteverted ears, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Short nose, ... |
OMIM:618087 |
Braddock-Carey Syndrome 1 |
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Curly hair, Telecanthus, Posteriorly rotated ears, Wide nasal bridge, Camptodactyly, Sparse hair,... |
OMIM:619980 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Sensorineural hearing impairment, Thin... |
ORPHA:2719 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Sparse scalp hair, Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow,... |
OMIM:619293 |
Combined Oxidative Phosphorylation Deficiency 47 |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Generalized hypotonia,... |
OMIM:618958 |
Flotch Syndrome |
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Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Abnormali... |
ORPHA:2045 |
Dystonia 32 |
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Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Cornelia De Lange Syndrome 5 |
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Telecanthus, Highly arched eyebrow, Hearing impairment, Cryptorchidism, Synophrys, Low anterior h... |
OMIM:300882 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
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Posteriorly rotated ears, Thick hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set e... |
OMIM:617773 |
Congenital Short Bowel Syndrome |
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Sparse hair, Lipoatrophy |
ORPHA:2301 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Wide nasal bridge, Low p... |
ORPHA:163654 |
Spastic Ataxia 1, Autosomal Dominant |
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Spastic paraplegia, Leg muscle stiffness, Dystonia |
OMIM:108600 |
Aquagenic Palmoplantar Keratoderma |
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Orthokeratotic hyperkeratosis, Skin plaque, White papule, Palmoplantar keratoderma |
ORPHA:498359 |
Congenital Ichthyosiform Erythroderma |
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Alopecia, Abnormality of the nail, Hearing impairment, Ectropion |
ORPHA:79394 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
Bethlem Myopathy |
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Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Bartsocas-Papas Syndrome |
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Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sparse or absent ey... |
ORPHA:1234 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati... |
ORPHA:79240 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi... |
ORPHA:1901 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
Desbuquois Syndrome |
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Sparse hair, Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal eyelash morphology |
ORPHA:1425 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia, Bile duct pro... |
OMIM:613027 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Hip contracture, Axial hypotonia, Cachexia, Elbow flexion contracture, Hypotonia, Spastic tetrapl... |
ORPHA:371364 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Skeletal muscle atrophy, Spina bifida occulta, Hypotonia, Thin skin |
ORPHA:230839 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Myopathy, Hypoglycemia |
ORPHA:366 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Skeletal muscle atrophy, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Limb-g... |
OMIM:112250 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Sacral dimple, Bi... |
ORPHA:544488 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Glu... |
ORPHA:2298 |
Huriez Syndrome |
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Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Small nail, Dry skin, Abnormality of the... |
ORPHA:384 |
Congenital Disorder Of Glycosylation, Type Iq |
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Elevated hepatic transaminase, Microcytic anemia, Hypotonia, Hyperkeratosis, Ichthyosis, Spastici... |
OMIM:612379 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
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Sparse hair, Coarse hair, Ankle flexion contracture |
OMIM:619985 |
Coffin-Siris Syndrome 3 |
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Sparse scalp hair, Ptosis, Thick eyebrow, Inguinal hernia, Hearing impairment, Central diaphragma... |
OMIM:614608 |
Endocardial Fibroelastosis |
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Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Osteopenia, Osteoporosis, Ovarian cyst, Truncal obesity, Thin skin, Pancreatitis, Striae distensae |
OMIM:610475 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hyp... |
ORPHA:276575 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant... |
OMIM:605676 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Writer's cramp |
ORPHA:163727 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... |
OMIM:614564 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Absence of Stensen duct, Decreased response to growth hormone stimulation test, Conductive hearin... |
OMIM:129900 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Short nose, Flexion contracture, Absence of subcutaneous fat, Dry sk... |
OMIM:601675 |
Autosomal Recessive Spastic Paraplegia Type 56 |
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Spastic paraplegia, Spastic gait, Dystonia |
ORPHA:320411 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Inguinal hernia, Highly arched eyebrow, Wide nasal bridge, Cutis laxa, Long eyelashes, Downslante... |
OMIM:619451 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Hereditary Bullous Dystrophy, Macular Type |
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Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na... |
ORPHA:1867 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyp... |
ORPHA:276608 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Sensorineural hearing impairment, Microtia, Ectropion |
OMIM:275630 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Abnormal pinna morphology, Inguinal he... |
OMIM:614607 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Tremor, Spasticity, Dystonia |
OMIM:614561 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Axial hypotonia, Hypoglycemia, Thrombocytopenia, Neutropenia, Osteopo... |
OMIM:606054 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Posteriorly rotated ears, Blepharophimosis, Wide nasal bridge, Low posterior hairline... |
OMIM:613174 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Postural tremor, Hypoglycemia, Abnormal erythrocyte ... |
ORPHA:79239 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia |
OMIM:306000 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thick hair, Synophrys, Long eyelashes, Horizontal eyebrow, Low-set ears, Thick eyebrow, Hypertric... |
OMIM:618381 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Alexander Disease Type I |
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Cachexia, Hypotonia, Generalized hypotonia, Spasticity, Failure to thrive |
ORPHA:363717 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Axial hypotonia, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Diabetes mellitu... |
ORPHA:391408 |
Silver-Russell Syndrome |
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Decreased muscle mass, Failure to thrive in infancy, Shoulder dimple, Cachexia, Cryptorchidism, I... |
ORPHA:813 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced hapto... |
OMIM:612126 |
Tetrasomy 12P |
|
Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Short nose, Ptosis |
ORPHA:884 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Knee flexion contracture, Premature skin wrinkling, Thin skin, Low-set... |
OMIM:601559 |
Fg Syndrome 3 |
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Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair... |
OMIM:300406 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Telecanthus, Prominent ear helix, Synophrys, Low anterior hairline, Large earlobe, Long eyelashes... |
ORPHA:411986 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Thickened helices, Sparse hair, Dystrophic fingernails, Low-set, po... |
ORPHA:1340 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Wide nasal bridge, Long eyelashes, Low-set ears, Anterio... |
ORPHA:2863 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails |
OMIM:226650 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun... |
ORPHA:293964 |
Filippi Syndrome |
|
Cryptorchidism, Wide nasal bridge, Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Sparse scalp hair, Failure to thrive, Hepatomegaly, Cholangitis, Craniosynostosis, Pa... |
OMIM:266920 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Axial hypotonia, Hypoglycemia, Tremor, Spastic tetraplegia, Athetosis, H... |
OMIM:617710 |
Shashi-Pena Syndrome |
|
Ptosis, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Nevus flammeus of the forehe... |
OMIM:617190 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
Striatonigral Degeneration, Childhood-Onset |
|
Elevated circulating creatine kinase concentration, Hypotonia, Hypertonia, Dystonia, Craniofacial... |
OMIM:617054 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia, Generalized hypotonia |
OMIM:614741 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Low-se... |
OMIM:601853 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Spastic tetraplegia, Congenital contracture, Dystonia, Arthrogryposis multiplex ... |
OMIM:618285 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Papule, Skin ulcer |
ORPHA:2337 |
Ifap Syndrome 2 |
|
Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Perioral erythema, S... |
OMIM:619016 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Severe conductive hearing impairment, Atrophic scars, Thin skin, Thick eyebrow, ... |
ORPHA:230851 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal i... |
ORPHA:98813 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Long eyelashes, Low-set ears |
OMIM:615502 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Scarring alop... |
ORPHA:35173 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Tremor, Synophrys, Obe... |
ORPHA:85293 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Dystonia, Failure to thrive |
ORPHA:289504 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Sensorineural hearing impair... |
OMIM:619075 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Distichiasis |
ORPHA:2598 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set ears, Conduct... |
OMIM:617412 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Tremor, Distal amyotrophy, Dystonia, Spasticity, Lower limb muscle ... |
OMIM:607317 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormal pinna morphology, Nasolacrimal duct obstruction, Hypoplastic nipples, Small nail, Sparse... |
OMIM:273400 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp... |
ORPHA:79395 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short nose, Long eyelashes |
ORPHA:969 |
Nablus Mask-Like Facial Syndrome |
|
Telecanthus, Small earlobe, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow, Bl... |
OMIM:608156 |
Kury-Isidor Syndrome |
|
Alopecia, Sacral dimple, Hypertrichosis, Low-set ears, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Short Syndrome |
|
Alopecia, Telecanthus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Sensori... |
ORPHA:3163 |
Lipoid Proteinosis |
|
Scarring, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Dystonia, Alopecia of scalp, Papule |
ORPHA:530 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Small ... |
OMIM:181270 |
Kosaki Overgrowth Syndrome |
|
Wide nasal bridge, Xanthelasma, Thin skin, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... |
OMIM:615866 |
Blepharocheilodontic Syndrome 2 |
|
Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Nail dysplasia, Distichiasis |
OMIM:617681 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Cutis laxa,... |
OMIM:208050 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dystonia |
OMIM:619661 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Underfolded helix, Abs... |
OMIM:268400 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Dystonia |
OMIM:615030 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Abnormality of the subungual region, Atrophic scars, Palmoplantar keratoderma, Nail... |
ORPHA:79411 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... |
OMIM:614594 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Thick hair, Rigidity, Hypotonia, Dystonia |
OMIM:618239 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Ptosis |
ORPHA:1214 |
Chromomycosis |
|
Erythematous macule, Subcutaneous nodule, Verrucous papule, Hypopigmented skin patches, Osteolysi... |
ORPHA:182 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotrans... |
OMIM:245400 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Skin erosion, Localized skin lesion, Erythematous papule, Atypica... |
ORPHA:79410 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonychia, Alopecia u... |
OMIM:609638 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre... |
ORPHA:100083 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo... |
OMIM:226700 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Chilblain Lupus |
|
Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis, Increased circulating antibody level... |
ORPHA:90280 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Sensorineural hearing impairment, Coarse hair, Joint contr... |
ORPHA:1883 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Axial hypotonia, Small for gestational age, Failure to thrive in infancy... |
ORPHA:59 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Abnormal pinna morphology, Highly arched eyebrow, Cryptorchidism, Flexion contract... |
OMIM:617452 |
Joubert Syndrome 37 |
|
Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge, Low-set ears, Sparse hair, Decreased... |
OMIM:619185 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Hypotonia, Muscular dystroph... |
OMIM:617066 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Upslanted palpebr... |
ORPHA:1005 |
Pachyonychia Congenita |
|
Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dys... |
ORPHA:2309 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Tremor, Splenomegaly, Hypotonia, Hyperkeratosis, Hernia |
ORPHA:812 |
Prolidase Deficiency |
|
Skin ulcer, Low posterior hairline, Facial hirsutism, Short nose, Petechiae, Ptosis |
OMIM:170100 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Posteriorly rotated ears, Symblepharon, Ankle flexion contracture, Conductive hearing... |
OMIM:618175 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis, Dystonia |
OMIM:610181 |
Periventricular Nodular Heterotopia |
|
Thin skin, Hernia |
ORPHA:98892 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal brid... |
ORPHA:1794 |
Sézary Syndrome |
|
Alopecia, Dry skin, Nail dystrophy, Ectropion |
ORPHA:3162 |
Hypotonia-Cystinuria Syndrome |
|
Axial hypotonia, Facial palsy, Decreased response to growth hormone stimulation test, Ragged-red ... |
OMIM:606407 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Cryptorchidism, Cafe-au-lait spot, S... |
ORPHA:166035 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Upslanted palpebral fissure, Nail dystrophy, Sparse hair, A... |
ORPHA:140936 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
X-Linked Agammaglobulinemia |
|
Alopecia, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Neut... |
ORPHA:47 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Small earlobe, Absent eyebrow, Alopecia, Absent ey... |
OMIM:264090 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Lower limb spasticity, Tremor, Spastic paraplegia, Leg muscle stiffness, Spastic dysarthria, Hype... |
ORPHA:251282 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Sparse facial hair, Small for gestational age, Sparse axillary hair, Congenital gener... |
OMIM:608154 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Cryptorchidism, Facial diplegia, Generalized hypotonia, Dystonia, Neonat... |
OMIM:611890 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Oste... |
OMIM:616200 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypoth... |
ORPHA:95619 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Spastic tetraplegia, Elevated circulating creatine kinase concentration, Dystonia |
OMIM:617389 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:608779 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, Anemia |
OMIM:619302 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Low-set ears |
ORPHA:228390 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Proximal muscle weakness ... |
ORPHA:453533 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar... |
OMIM:613451 |
2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Low-set ears, Sparse hair, Downslanted palpebral fissures, Decreased testicular size |
ORPHA:251019 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Par... |
ORPHA:398124 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Head tremor, Limb dystonia |
OMIM:614860 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Synophrys, Upslanted palpebral fissure, Long eyelashe... |
ORPHA:289522 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail, Ectropion |
OMIM:242100 |
Kaposi Sarcoma |
|
Macule, Generalized lymphadenopathy, Hypermelanotic macule, Abnormality of the spleen, Skin nodul... |
ORPHA:33276 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Hypoglycemia, Alopecia totalis, Decreased response to gro... |
OMIM:615577 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:31112 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Generalized hypotonia, D... |
OMIM:618238 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ... |
OMIM:617052 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Blepharophimosis, Low anterior hairline, Ovarian neoplasm, Upslanted palpebral fissur... |
OMIM:617883 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Long eyelashes, Low-set ... |
OMIM:615009 |
Developmental And Epileptic Encephalopathy 7 |
|
Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia, Fine hair, Long eyelashes, High anterior hairline |
ORPHA:231137 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Wide nasal bridge, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Long eyelashes, Hypotonia, Hypoglycemia |
ORPHA:163693 |
Bartsocas-Papas Syndrome 1 |
|
Skin tags, Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepha... |
OMIM:263650 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sensorineural hearing impairment, Low-set ears... |
OMIM:620075 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia,... |
OMIM:264470 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Lacrimal duct stenosis, Anterior pituitary hypoplasia, Cryptorchidism, Sensorine... |
OMIM:151050 |
Dracunculiasis |
|
Subcutaneous nodule, Flexion contracture, Skin ulcer, Cellulitis |
ORPHA:231 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Protruding ear, Low-set ears, Sparse h... |
OMIM:617988 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splen... |
OMIM:604173 |
Pilarowski-Bjornsson Syndrome |
|
Almond-shaped palpebral fissure, Long eyelashes, Downslanted palpebral fissures, Broad eyebrow, D... |
OMIM:617682 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dyst... |
OMIM:610333 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Dystonia, Portal hypertension, Premature graying of hair, Hepatic fibro... |
OMIM:617341 |
Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... |
ORPHA:254516 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... |
OMIM:613135 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandib... |
ORPHA:521406 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Abnormality of the gallbladder, Hypotonia, Spas... |
ORPHA:349 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Acanthosis nigricans, Hyperglycemia, Calcinosis, Hepatomegaly, A... |
OMIM:248370 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Whipple Disease |
|
Hepatomegaly, Myositis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Insulin resistance, ... |
ORPHA:3452 |
Temple-Baraitser Syndrome |
|
Epicanthus, Hypoplastic thumbnail, Absent nail of hallux, Bilateral ptosis, Low anterior hairline... |
ORPHA:420561 |
Eosinophilic Fasciitis |
|
Macule, Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, W... |
ORPHA:3165 |
Gapo Syndrome |
|
Epicanthus, Alopecia, Sparse eyelashes, Epidermoid cyst, Redundant skin, Sparse eyebrow, Protrudi... |
OMIM:230740 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Low-set ea... |
OMIM:616901 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Siddiqi Syndrome |
|
Ichthyosis, Flexion contracture, Lower limb amyotrophy, Limb dystonia |
OMIM:618635 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Posteriorly rotated ears, Upslanted palpebral fissure, Patchy alopecia, Low-set ears, Sparse hair... |
OMIM:617763 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Cryptorchidism, Protruding ear, Patchy alopecia, Multiple cafe-au-lait s... |
ORPHA:85279 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli... |
OMIM:613707 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Hypotonia, Reduced bone mineral density, Hyperkeratosis, Webbed neck, Failure to thrive |
OMIM:615279 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Generalized hypotonia, Hepatic failure... |
ORPHA:2394 |
2Q23.1 Microduplication Syndrome |
|
Highly arched eyebrow, Bilateral ptosis, Low anterior hairline, Long eyelashes, Cafe-au-lait spot |
ORPHA:313947 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Weight lo... |
ORPHA:545 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Agenesis of pineal gland, Multiple joint co... |
ORPHA:536471 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Unilateral cryptorchidism, Sparse eyelashes, Microtia, Atresia of the external auditory canal, Co... |
OMIM:300946 |
Meier-Gorlin Syndrome 1 |
|
Hyperconvex nail, Cryptorchidism, Flexion contracture, Microtia, Long eyelashes, Atresia of the e... |
OMIM:224690 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Keutel Syndrome |
|
Alopecia, Dermal atrophy, Hearing impairment |
ORPHA:85202 |
Lipodystrophy, Familial Partial, Type 2 |
|
Adipose tissue loss, Increased intraabdominal fat, Xanthomatosis, Acanthosis nigricans, Hyperglyc... |
OMIM:151660 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbum... |
OMIM:610965 |
Stxbp1-Related Encephalopathy |
|
Tremor, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Highly arched eyebrow, Synophrys, Long eyelashes, Frontal upsweep of hair, Low-set ears |
OMIM:619286 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Enlarged ovaries, Axial hypotonia, ... |
ORPHA:508 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Thick hair, On... |
ORPHA:769 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac... |
ORPHA:1775 |
Macs Syndrome |
|
Alopecia, Epicanthus, Palpebral edema, Redundant skin, Sparse eyebrow, Cryptorchidism, Wide nasal... |
OMIM:613075 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Abnor... |
ORPHA:2399 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ... |
OMIM:226600 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Dystonia |
ORPHA:36899 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Overweight, Spastic paraplegia, Flexion contracture, Hypertonia, Dystonia, Neonatal hypotonia, Sp... |
OMIM:614066 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Diastasis recti, Large for gestational age, Cryptorchidism, Hypopigmented skin patche... |
ORPHA:457485 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Axial hypotonia, Hypoglycemia, Hypertonia, Failure to... |
ORPHA:79096 |
Noonan Syndrome 14 |
|
Curly hair, Epicanthus, Lacrimal duct stenosis, Posteriorly rotated ears, Sparse eyebrow, Cryptor... |
OMIM:619745 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryngeal dystoni... |
OMIM:617284 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Axial hypotonia, Dystonia |
OMIM:619651 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hearing impairment, Blepharophimosis, Cryptorchidism, Camptodactyly of toe, Large earlobe, Sparse... |
ORPHA:127 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Sparse hair, Macrotia, D... |
OMIM:616817 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Palmo... |
OMIM:242150 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Hypotonia, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Spasticity |
OMIM:300438 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Hypotonia, Spastic diplegia, Hyperkeratosis, Ichthyosis, Spast... |
ORPHA:816 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Protruding ear, Low-set ears, Decreased testicular size, Hearing impair... |
ORPHA:85284 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Fail... |
ORPHA:79237 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Protruding ear, Sparse ha... |
ORPHA:77258 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss, Pan... |
ORPHA:33577 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Macroorchidism, Enamel hypop... |
ORPHA:139474 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia |
ORPHA:664 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Spasticity, Failure to thrive in infancy, Hypotonia, Hypoglycemia |
ORPHA:6 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpeb... |
ORPHA:66625 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Wide nasal bridge, Fine hair, Upslanted palpebral fissure, Microtia, Long eyelashes, S... |
OMIM:620250 |
Facioscapulohumeral Dystrophy |
|
Abnormal eyelash morphology, Sensorineural hearing impairment, Palpebral edema |
ORPHA:269 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis |
OMIM:617443 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Hypoglycemia, Cachexia, Subcutaneous nodule, Hypotonia, Multiple cafe-au... |
ORPHA:109 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Carpal osteolysis |
ORPHA:2774 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Generalized dystonia, Camptodactyly of finger, Tremor, Splenomegaly, Thickened s... |
ORPHA:354 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Hypotonia, Choreoathetosis, Neutropenia, ... |
ORPHA:79312 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Dystonia |
OMIM:619196 |
Faciocardiomelic Syndrome |
|
Telecanthus, Short eyelashes, Ptosis |
OMIM:612731 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow |
OMIM:224900 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat... |
ORPHA:38 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... |
OMIM:245660 |
Cranioectodermal Dysplasia |
|
Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Sparse hair, Abnor... |
ORPHA:1515 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Opisthotonus, Spastic dysarthria, Hypertonia, Spast... |
OMIM:205100 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia |
OMIM:619966 |
Restrictive Dermopathy 1 |
|
Entropion, Sparse eyelashes, Short nail, Limb joint contracture, Absent eyelashes, Sparse eyebrow... |
OMIM:275210 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Sparse hair, Umbilical herni... |
ORPHA:284180 |
Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule, Ichthyosis |
ORPHA:454 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Redundant neck skin, Lipodystrophy, Thick hair, Redundant skin, Abnormal subcuta... |
ORPHA:357074 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion c... |
OMIM:618120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly, Generalized hypotonia, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly... |
ORPHA:228396 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Small for gestational age, Elevated circulating creatine kinase concentration, Hypot... |
OMIM:619054 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Osteoporosis,... |
ORPHA:73272 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Thin skin, Blepharophimosis, Shor... |
ORPHA:3342 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia... |
OMIM:619418 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Hyperinsulinemia,... |
ORPHA:263455 |
Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Bila... |
OMIM:615873 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Chondrocalci... |
ORPHA:2591 |
4Q21 Microdeletion Syndrome |
|
Hearing impairment, Synophrys, Long eyelashes, Low-set ears, Generalized hirsutism, Ptosis |
ORPHA:238750 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Low anterior hairlin... |
ORPHA:800 |
Leukodystrophy, Hypomyelinating, 18 |
|
Flexion contracture, Spastic tetraplegia, Progressive spasticity, Dystonia, Spasticity, Failure t... |
OMIM:618404 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Thickened skin,... |
ORPHA:2905 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Hypotonia, Glucose intolerance, Joint contracture of t... |
OMIM:614407 |
Shukla-Vernon Syndrome |
|
Sparse hair, Downslanted palpebral fissures |
OMIM:301029 |
Rodrigues Blindness |
|
Sparse hair, Protruding ear, Fine hair |
OMIM:268320 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Sensorineural hearing impairment, Ke... |
ORPHA:96129 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Papule |
OMIM:616069 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
Leukodystrophy, Hypomyelinating, 10 |
|
Prominent eyelashes, Upslanted palpebral fissure, Low-set ears, Hypoplasia of the antihelix, Shor... |
OMIM:616420 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... |
ORPHA:400 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Weight loss, Leukop... |
ORPHA:33355 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Skeletal muscle atrophy, Myositis, Failure to thrive, Elevated cir... |
OMIM:615934 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Subcutaneous nodule, Generalized hirsutism, Abnorm... |
ORPHA:744 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal denta... |
ORPHA:1071 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:614739 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Wide nasal bridge, Skin ulcer, Cellulitis, Skin vesicle, Dy... |
ORPHA:2314 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Dystonia, Spastic tetraplegia, Infantile muscular hypotonia |
ORPHA:263410 |
Barber-Say Syndrome |
|
Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Extra concha fold, ... |
OMIM:209885 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, C... |
OMIM:607602 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperec... |
ORPHA:456312 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Cafe-au-lait spot, Small nail, Low-set ears, Sparse hair, High ... |
OMIM:250410 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Flexion contracture, Small nail |
OMIM:617396 |
Geroderma Osteodysplastica |
|
Osteoporosis, Hypotonia, Thin skin, Hernia, Abnormal bone ossification |
ORPHA:2078 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Sensorineural hearing impairment, Large fleshy ears, Long eyelashes, Absent fingerna... |
ORPHA:3473 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, ... |
ORPHA:401768 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Dry skin, Sparse eyelashes |
OMIM:610768 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:614702 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Dry skin, Atypical scar... |
OMIM:601701 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hypotonia, Hyperkeratosis, Generalized amyotrophy, Spasticity |
ORPHA:79279 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Ichthyosis, Hyperkeratosis,... |
OMIM:608013 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hepatomegaly, Spasticity, Dystonia |
OMIM:615924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Spastic diplegia, Increased intramyocellular lipid droplets, Dyston... |
OMIM:619065 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita |
OMIM:615297 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Short nose, Long eyelashes, Wide nasal bridge |
OMIM:618577 |
Noonan Syndrome 8 |
|
Curly hair, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Left ventricu... |
OMIM:615355 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Hypotonia, Neutropenia, Joint contracture, Failure to thrive, Hirsutism |
OMIM:618005 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Hypopigmented skin patches, Opisthotonus, Shou... |
ORPHA:206436 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Synophrys, Osteoporosis, Hypotonia, Atypica... |
ORPHA:536545 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Hypotonia |
OMIM:616111 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, Bilateral ptosis, Low anterior... |
ORPHA:329224 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypertonia,... |
ORPHA:3455 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Athetosis, Hypoglycemia, Hypotonia |
OMIM:618241 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Gapo Syndrome |
|
Skin tags, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding, Hypopigmen... |
ORPHA:2067 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis |
ORPHA:455 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Obesity, Hypotonia, Limb dystonia |
OMIM:620270 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Failure to thrive, Dystonia |
OMIM:271930 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis,... |
OMIM:231670 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... |
ORPHA:86884 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reac... |
OMIM:612852 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Cachexia, ... |
ORPHA:275761 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Psoriasiform... |
ORPHA:69085 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia, Cholestatic liver disease, Generalized hypotonia, Failure ... |
ORPHA:5 |
Pontocerebellar Hypoplasia, Type 8 |
|
Posteriorly rotated ears, Synophrys, Long eyelashes, Low-set ears, Arthrogryposis multiplex conge... |
OMIM:614961 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous... |
ORPHA:312 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula... |
OMIM:615673 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Epidermoid cyst, Decreased response to growth hormone stimulation test, Blepharophimo... |
OMIM:614114 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia, Leukopenia, Generalized hypotonia, Neutropenia, Failure to... |
OMIM:251000 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Failure to thr... |
ORPHA:3071 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Acromicric Dysplasia |
|
Long eyelashes |
OMIM:102370 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Craniofacial dystonia |
OMIM:619565 |
Hamamy Syndrome |
|
Hypoparathyroidism, Telecanthus, Inguinal hernia, Sparse eyelashes, Blepharophimosis, Sparse eyeb... |
OMIM:611174 |
Netherton Syndrome |
|
Sparse scalp hair, Failure to thrive, Brittle hair, Parakeratosis, Brittle scalp hair, Sparse eye... |
OMIM:256500 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Skeletal muscle atrophy, Oculogyric crisis, Dystonia |
ORPHA:330050 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Elevated circ... |
OMIM:208900 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Hernia, Lymphadenopathy |
ORPHA:26790 |
Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Aplas... |
ORPHA:974 |
Partington Syndrome |
|
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly |
OMIM:309510 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Epicanthus, Downslanted palpebral fissures, Short nose |
OMIM:614105 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
ORPHA:702 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Dry ski... |
ORPHA:634 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis laxa, Umbilical hernia |
OMIM:130080 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Hypotonia, Hypoalbuminemia, Bile du... |
OMIM:618329 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab... |
ORPHA:2526 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia, Hypertrichosis |
OMIM:614898 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Torticollis, Axial hypotonia, Dystonia |
OMIM:618425 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Generalized hypotonia, Dystonia |
OMIM:618224 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Obesity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616756 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroidism, Tetralogy of Fall... |
OMIM:601005 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Cryptorchidism, Nevus psiloliparus, Eyelid coloboma, Lipoma, Limbal dermoid, Multiple c... |
OMIM:613001 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyebrow, Cryptorchidi... |
OMIM:601358 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Hypoglycemia, Hypotonia, Hepatomegaly |
OMIM:266150 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... |
ORPHA:1328 |
Agel Amyloidosis |
|
Bilateral ptosis, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Spars... |
ORPHA:85448 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Telecanthus, Epicanthus, Sparse eyelashes, Long nose, Fine hair, Large earlobe, Low-set ears, Spa... |
OMIM:257850 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... |
ORPHA:79151 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Absent toenail, Absent fingernail, A... |
ORPHA:158687 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Protruding ear, Sparse lateral eyebrow |
OMIM:190351 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Dry sk... |
OMIM:257980 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Increased C-peptide level |
OMIM:620211 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ... |
ORPHA:3427 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Blue nevus, Red hair, Generalized hypopigmentation of hair |
ORPHA:79433 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin... |
ORPHA:436252 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Scarring, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hai... |
OMIM:308300 |
Developmental And Epileptic Encephalopathy 64 |
|
Epicanthus, Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Long eyelashes, Macroti... |
OMIM:618004 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Spastic tetraplegia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro... |
OMIM:614457 |
Cantu Syndrome |
|
Epicanthus, Curly eyelashes, Wide nasal bridge, Umbilical hernia, Long eyelashes, Congenital, gen... |
OMIM:239850 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormal fingernail morphology, Pal... |
ORPHA:79145 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Periarticular subcutaneous nodules, Fasting hypoglycemia, Decreased response to growth hormone st... |
ORPHA:436174 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, Downslanted palpebra... |
OMIM:617523 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow |
OMIM:261990 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Hearing impairment |
OMIM:600501 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair, Verrucous papule, Reduced bone mineral density |
ORPHA:2611 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Ragged-red muscle fibers, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Posteriorly rotated ears, Microtia, Long eyelashes, Low-set ears, Downslanted palpebral fissures |
OMIM:618089 |
Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Small for gestational age, Thin skin |
OMIM:166210 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
ORPHA:71277 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Rigidity, Torticollis, Choreoathetosis, Dystonia |
ORPHA:98810 |
Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Limb joint contracture, Elevated circulating cre... |
OMIM:617013 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Tremor, Flexion contracture, Neutropenia, Hypotonia, Opisthotonus, Choreoa... |
OMIM:616271 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis |
OMIM:615907 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin, Polycystic ovaries |
OMIM:268020 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... |
ORPHA:678 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Alopecia, Dystonia, Multiple joint contractures, Hypoglycemia, Frontal h... |
ORPHA:506 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Splenomegaly, Jaundice, Hypotonia, ... |
OMIM:251290 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Hypotonia, Decreased liver function, Generalized ... |
ORPHA:70472 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Protruding ear, Thin eyebrow,... |
OMIM:190350 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp... |
ORPHA:157954 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactiv... |
OMIM:614204 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Protruding ear, Low-set ears, Aplasia cutis congenita of... |
OMIM:619959 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Facial hypotonia, Overweight, Hypotonia, Spastic dysarthria, Dystonia, Spasticity, Progressive sp... |
ORPHA:280763 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Cho... |
OMIM:618416 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Short palpebral fissure, Aplasia cutis congenita |
OMIM:614814 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ... |
ORPHA:2909 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Erythematous macule, Alopecia |
OMIM:615559 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Hirsutism |
OMIM:615830 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Unilateral cryptorchidism, Posteriorly rotated ears, Abnormal eyelash morphology, ... |
OMIM:206920 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Hypotonia, He... |
ORPHA:156 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Absent eyebrow, Numerous nevi, Curly hair, Slow-growing hair, Absent eyelashes, Splen... |
OMIM:115150 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Multipl... |
ORPHA:3353 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Generalized hypotonia |
OMIM:618158 |
Menkes Disease |
|
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair, Thickened skin, Aplasia/Hyp... |
ORPHA:565 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... |
ORPHA:26791 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Hypersplenism, Splenomegaly, Port... |
OMIM:616028 |
Omenn Syndrome |
|
Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
Reni Syndrome |
|
Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Generalized hypotonia, Ichthyosis, Lymphopenia |
OMIM:617575 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Hepatic necros... |
OMIM:127550 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Leigh Syndrome |
|
Hypotonia, Hepatocellular necrosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thriv... |
OMIM:256000 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Limb joint contracture, Highly arched eyebrow, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:505237 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Dystonia, Spasticity |
ORPHA:101109 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
Alg3-Cdg |
|
Osteopenia, Lipodystrophy, Spastic tetraparesis, Hypotonia, Macroglossia, Hypertonia, Decreased l... |
ORPHA:79321 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con... |
OMIM:148210 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism, Dystonia, Infantile muscular hyp... |
ORPHA:457205 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Dystonia, Spasti... |
OMIM:128230 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Hepat... |
ORPHA:99931 |
Felty Syndrome |
|
Hepatomegaly, Cellulitis, Thrombocytopenia, Subcutaneous nodule, Splenomegaly, Osteolysis, Lympha... |
ORPHA:47612 |
Kabuki Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Hearing impairment, Lower lip pit, Cupped ear, Protruding ear,... |
OMIM:300867 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Mixed hearing impairment, Long eyelashes, Low-set ears, Thickened helices, Overfolded... |
OMIM:608624 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Preauricular skin tag, Subcutaneous nodule, Upper eyelid coloboma,... |
ORPHA:1791 |
Developmental And Epileptic Encephalopathy 48 |
|
Long palpebral fissure, Long eyelashes |
OMIM:617276 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism |
OMIM:619071 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Huntington Disease-Like 2 |
|
Weight loss, Dystonia |
ORPHA:98934 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Thickened skin, Subcutaneous nodule, Type II diabete... |
ORPHA:2833 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Wide nasal bridge, Protruding ear |
ORPHA:2518 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Microtia, Abnormality of the h... |
ORPHA:370079 |
Bainbridge-Ropers Syndrome |
|
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism... |
OMIM:615485 |
Wiedemann-Steiner Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Decreased response to growth hormone stimulation test, Sa... |
ORPHA:319182 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Distal amyotrophy, Dystonia, Oromandibular dystonia, Spastic parap... |
OMIM:615643 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Axial hypotonia, Ankle flexion contracture, Choreoathetosis, Lower limb hyperton... |
ORPHA:319514 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Dry hair, Axial hypotonia, Hepatome... |
ORPHA:191 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Facial hypotonia, Tremor, Spastic paraplegia, Flexion contractur... |
OMIM:300055 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Small for gestational age, Decreased liver function, Hypoglycemia |
OMIM:615160 |
Androgen Insensitivity Syndrome |
|
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... |
OMIM:300068 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Rett Syndrome |
|
Skeletal muscle atrophy, Spasticity, Cachexia, Dystonia |
OMIM:312750 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Chalazion, Hearing impairment |
OMIM:613355 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, ... |
ORPHA:465508 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Telecanthus, Redundant neck skin, Posteriorly rotated ears, Thickened helices, Supernumerary nipp... |
OMIM:604314 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia, Hypomimic face |
OMIM:260300 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Generalized amyotrophy, Hypoglycemia, Hypotonia |
OMIM:610006 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine ... |
ORPHA:99901 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ... |
ORPHA:3380 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Synophrys, Long eyelashes |
OMIM:619064 |
Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Generalized dystonia, Elevated circulating creatine kinase concentration, Fine h... |
OMIM:272300 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Dystonia |
OMIM:619647 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Pulmonary fibrosis |
OMIM:618165 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Synophrys, Long eyelashes, Low-set ears, Thin eyebrow |
ORPHA:502434 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Epicanthus, Posteriorly rotated ears, Inguinal hernia, Cryptorchid... |
OMIM:607721 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Increased mean platel... |
OMIM:222470 |
Microsporidiosis |
|
Myositis, Cholangitis, Cachexia, Abnormality of the spleen, Skin nodule, Abnormality of the parat... |
ORPHA:2552 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ears, Atrophic scars, ... |
ORPHA:536467 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Neona... |
OMIM:618835 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Increased circulating ferritin concentration, Thrombocytop... |
OMIM:222700 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Protruding ear, Downslanted palpebral fissures, Sparse body hair, Ptosis |
ORPHA:3068 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Neona... |
OMIM:618839 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Axial hypotonia, Cholangitis, Hypoglycemia, Microves... |
OMIM:124000 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Hypertrichosis |
OMIM:619983 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... |
OMIM:277900 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Palmoplantar keratoderma, Weight loss |
ORPHA:2198 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Cryptorchidism, Cafe-au-lait spot, Hypo... |
ORPHA:397590 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Diabetes melli... |
ORPHA:48818 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Dry skin |
OMIM:618282 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... |
ORPHA:621 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Absence of subcutaneous fat |
OMIM:176670 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia |
OMIM:261630 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Axial hypotonia, Hypotonia, Generalized dystonia |
OMIM:619389 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Camptodactyly of finger, Abnormal denta... |
ORPHA:2710 |
Ring Chromosome 10 Syndrome |
|
Hypotonia, Cachexia |
ORPHA:1438 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hypotonia, Thin skin |
ORPHA:449291 |
Incontinentia Pigmenti |
|
Abnormal toenail morphology, Spina bifida occulta, Abnormality of the nail, Alopecia, Abnormal fi... |
ORPHA:464 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal eyelid morphology, Conductive hearing impairment, Pterygium, Aplasia/... |
ORPHA:2990 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Epicanthus, Inguinal hernia, Excessive wrinkled skin, Thin skin, Molluscoid pseudotumors, Palmopl... |
OMIM:225400 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia, Spasticity, Anemia |
OMIM:246450 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers, Athetosis, Axial hypotonia, Dystonia |
OMIM:615159 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Dystonia |
OMIM:615338 |
Osteogenesis Imperfecta, Type Xx |
|
Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Sparse hair, Crumpled ear, Sparse ... |
OMIM:618644 |
Wieacker-Wolff Syndrome |
|
Facial palsy, High anterior hairline, Hypotonia, Congenital foot contractures, Distal amyotrophy,... |
OMIM:314580 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Lower eyelid colob... |
ORPHA:245 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Hypotonia, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Segawa Syndrome, Autosomal Recessive |
|
Tremor, Axial hypotonia, Rigidity, Limb dystonia |
OMIM:605407 |
Rhabdoid Tumor |
|
Subcutaneous nodule, Weight loss, Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Failure to thrive in infancy, Spastic paraplegia, Flexion contracture, Long eyela... |
OMIM:619026 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Upper limb muscle w... |
ORPHA:225154 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Osteopenia, Sparse eyebrow, Hypotonia, Generalized hypotonia, Dystonia, Thick eyebrow |
OMIM:617268 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Autosomal Dominant Robinow Syndrome |
|
Naevus flammeus of the eyelid, Alopecia, Femoral hernia, Curly eyelashes, Cryptorchidism, Wide na... |
ORPHA:3107 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Cran... |
ORPHA:79396 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin, Hearing... |
OMIM:613990 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Epidermal nevus, Flexion contracture, Epiphyseal stippling, Congenital i... |
OMIM:308050 |
Luo-Schoch-Yamamoto Syndrome |
|
Abnormal pinna morphology, Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of l... |
OMIM:619460 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Hypotonia, Cholestasis, Skeleta... |
ORPHA:746 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Camptodactyly of finger, Hearing impairment |
OMIM:610756 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Generalized hypotonia, Hepatic steatos... |
OMIM:613658 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Failure to thriv... |
OMIM:615512 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Hypotonia, Dystonia |
OMIM:617820 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Sensorineural hearing impairment, Short... |
ORPHA:2315 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... |
OMIM:253250 |
Monosomy 22 |
|
Aplasia of the thymus, Thickened skin, Synophrys, Hypochromic microcytic anemia, Hepatosplenomega... |
ORPHA:96123 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Dystonia, Type I diabetes m... |
OMIM:616113 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Kid Syndrome |
|
Psoriasiform dermatitis, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Posterior ... |
ORPHA:477 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Xanthomatosis, Hypotonia, Hypoglycemia |
ORPHA:364 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote... |
ORPHA:54251 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Nail dystrophy, Nail dysplasia, Milia,... |
OMIM:226730 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Increased circulating IgE level, Orthoker... |
OMIM:615508 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Low anterior hairline, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating asp... |
ORPHA:2088 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating crea... |
OMIM:201475 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hypotonia, General... |
OMIM:611126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Hypotonia, Umbilical hernia, Nemaline... |
OMIM:620275 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Bilateral cryptorchidism, Microvesicular he... |
ORPHA:66634 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Wide nasal bridge, ... |
OMIM:272950 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Partial absence of specific antibody response to Haemophilus influ... |
ORPHA:79324 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Hypomimic face, ... |
ORPHA:70594 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Sacral dimple, Redundant skin, ... |
ORPHA:536532 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor |
OMIM:608105 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Hypopigmented s... |
OMIM:613266 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Inguinal hernia, Uplifted earlobe, Nevus flammeus of the forehead, Low-set ears, Spar... |
OMIM:616449 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Generalized hirsutism, Narrow pal... |
OMIM:255800 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis |
ORPHA:79242 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Bone marrow ... |
ORPHA:445038 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Elevated circulating creatine kinase concentr... |
OMIM:612073 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Rigidity, Focal dystonia, Limb dystonia, Oromandibular dystonia, Spasticity |
ORPHA:216873 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Athetosis, Failure to thrive, Dystonia |
OMIM:619310 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... |
OMIM:617337 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis, Truncal obesity, Thin skin, Striae distensae |
OMIM:610489 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ... |
OMIM:300869 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears,... |
OMIM:617802 |
Basilicata-Akhtar Syndrome |
|
Nevus, Generalized hypotonia, Camptodactyly, Progressive spasticity, Preauricular skin tag, Neona... |
OMIM:301032 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous pulmonary v... |
ORPHA:555874 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Hypotonia, Plantar flexion contracture, Arthr... |
OMIM:620011 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation of hair, White eyelashes, White eyebrow |
ORPHA:352731 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Posteriorly rotated ears, Upslanted palpebral fissure, Distal arth... |
OMIM:619833 |
Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture, Hypotonia, Hyperkeratosis, Hypertonia, Failure to th... |
OMIM:609180 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Intermittent gener... |
ORPHA:284426 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Synophrys, Wide nasal bridge, Low-set ears, Sparse hair, Down... |
OMIM:609460 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Long eyelashes, Ptosis |
OMIM:619076 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Dystonia |
OMIM:620359 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Cryptorchidism, Low posterior hairli... |
OMIM:613563 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Hypotonia, Opisthotonus, Acute hepatic steatosis, Generalized hypotonia, Failure to... |
OMIM:210200 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Flexion contracture, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Thick eyebrow, Hooded eyelid, Thick hair, Highly arched eyebrow, Hear... |
OMIM:610759 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Hypotonia, Choreoathetosis, Neutropenia, Pancreatitis, ... |
ORPHA:289916 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Alopecia, Sensorineural hearing impairment |
OMIM:135100 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... |
ORPHA:71212 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypotonia |
OMIM:615026 |
16P11.2P12.2 Microduplication Syndrome |
|
Dystonia |
ORPHA:261204 |
Scalp-Ear-Nipple Syndrome |
|
Telecanthus, Palpebral edema, Abnormal fingernail morphology, Underdeveloped antitragus, Abnormal... |
ORPHA:2036 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:614921 |
Meige Disease |
|
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas... |
ORPHA:90186 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Hypotonia, Weight loss, Hyperglycemia, Thrombocytosis, ... |
ORPHA:134 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic... |
OMIM:158310 |
Trisomy 13 |
|
Preauricular pit, Abnormal eyelash morphology, Cryptorchidism, Sensorineural hearing impairment, ... |
ORPHA:3378 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Hypoglycemia, Hypotonia, Opisthotonus, Generalized hypotonia, ... |
OMIM:210210 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Hy... |
ORPHA:3322 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Corneal scarring... |
OMIM:301220 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Alopecia, Thrombocytopenia, Infantile muscular hyp... |
ORPHA:79330 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypotonia, Macroglossia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Pontocerebellar Hypoplasia, Type 13 |
|
Epicanthus, Long eyelashes, Overfolded helix, Low posterior hairline |
OMIM:618606 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Subcutaneous nodule, Protruding ear, Macule, Alopecia, Abnormal eyelash morpholog... |
ORPHA:286 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Retrocollis, Limb dystonia, Laryngeal dystonia |
OMIM:612067 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Synophrys, Hypotonia, Obesity, Hepatosplenomegaly, Cholecystitis, Aca... |
OMIM:301066 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Generalized hypotonia, Limb dystonia, Craniofacial dystonia, Hypomim... |
ORPHA:71517 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dystonia |
ORPHA:391428 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Dystonia |
OMIM:614932 |
Cantú Syndrome |
|
Epicanthus, Curly eyelashes, Low anterior hairline, Wide nasal bridge, Low posterior hairline, Lo... |
ORPHA:1517 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Axial hypotonia, Hypotonia, Generalized hypotonia, Dystonia, Failure to thrive |
OMIM:618226 |
Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Axial hypotonia, Hypotonia, Dystonia |
OMIM:616139 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Hirsutism, Long eyelashes, Low-set ea... |
OMIM:212066 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Cryptorchidism, Shallow orbits, Microtia, Long eyelashes, Low-set ears,... |
OMIM:601353 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair, Low-set ears |
OMIM:619910 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Hypotonia, Ketotic hypoglycemia |
ORPHA:79159 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Hypotonia, Weight loss, Hernia, Failure to thrive, Anemia |
ORPHA:1842 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Spastic paraplegia, Dystonia, Lower limb muscle weakness, Spastic gait |
OMIM:607565 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Infantile muscular hypotoni... |
ORPHA:95428 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus |
OMIM:163200 |
3-Methylglutaconic Aciduria, Type Ix |
|
Long eyelashes |
OMIM:617698 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Generalized hypotonia, Hepa... |
OMIM:201450 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Posteriorly rotated ears, Synophrys, Low anterior hairline, Protrudin... |
OMIM:618479 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Thickened skin, Hirsutism, Hepatosplenomegaly, Macroglossia, Decere... |
ORPHA:79255 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Rigidi... |
OMIM:258450 |
Dystonia 12 |
|
Tremor, Hypomimic face, Torticollis, Dystonia |
OMIM:128235 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Thickened helices, Toenail dysplasia, Synophrys, Nasolacrimal duct obstruction, Pr... |
OMIM:300966 |
Congenital Ptosis |
|
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Piebaldism, Cong... |
ORPHA:91411 |
White-Kernohan Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Broad medial eyebrow, Short nose, Upslanted pa... |
OMIM:619426 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Subcutaneous nodule, Hyperkeratosis, Parakeratosis, Axial hypotonia |
OMIM:618339 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ... |
OMIM:256040 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Rigidity, Dystonia |
ORPHA:401901 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Spastic tetraparesis, Knee flexion contracture, Weight loss, Lower limb ... |
ORPHA:3208 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Wide anterior fontanel, Jaundice, Hypotonia, Glycosuria, Neonatal dea... |
OMIM:231680 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized neonatal hypotonia, Dystonia |
ORPHA:352596 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Hearing ... |
ORPHA:261349 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Mednik Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Icht... |
ORPHA:171851 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Generalized amyotrophy, Hypotonia, Dystonia |
OMIM:203740 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa... |
OMIM:614924 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Flexion contr... |
ORPHA:17 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, R... |
ORPHA:647 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hypoglycemia, Eosinophilia, Pituitary a... |
ORPHA:199299 |
Mirage Syndrome |
|
Hypoglycemia, Cryptorchidism, Thrombocytopenia, Radial club hand, Leukopenia, Decreased body weig... |
OMIM:617053 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Hypoglycemia, Supernumerary nipple, Wide anterior fontanel, Gene... |
ORPHA:457279 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Upslanted palpebral fissure, Lon... |
OMIM:620070 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Hearing impairment... |
ORPHA:168569 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Down Syndrome |
|
Abnormality of the lymphatic system, Hypotonia, Obesity, Macroglossia, Type II diabetes mellitus,... |
ORPHA:870 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Decreased testicular size |
OMIM:620040 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Spastic paraplegia, Splenome... |
ORPHA:2072 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, Horizontal... |
OMIM:609757 |
Developmental And Epileptic Encephalopathy 44 |
|
Axial hypotonia, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:617132 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized amyotrophy, Generalized hypotonia, Dystonia |
OMIM:618910 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Skin nodule, Parakeratosis |
ORPHA:199267 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Epicanthus, Multiple joint contractures, Inguinal hernia, Sacral dimple, Facial wrinkl... |
OMIM:305450 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Acute leukemia, Hyperkeratosis, Ichthyosis, Testicular seminoma |
ORPHA:281090 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Oculogyric crisis, Hypotonia, Dystonia, Spasticity |
OMIM:614254 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dystonia, Hypomimic face |
OMIM:618049 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Pancreatitis, Generalized hypotonia, Dystonia |
OMIM:618230 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Posteriorly rotated ears, Wide nasal bridge, Long eyelashes, Low-set... |
OMIM:618529 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Huntington Disease-Like 2 |
|
Rigidity, Weight loss, Action tremor, Dystonia |
OMIM:606438 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Keratoconjunctivitis, Tympanosclerosis, Nail dystrophy, Cholelithia... |
OMIM:240300 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Ichthyosis |
ORPHA:461 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:300114 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Spas... |
OMIM:619055 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Distal amyotrophy, Foot dorsiflexor weakness |
ORPHA:36386 |
D-Glyceric Aciduria |
|
Axial hypotonia, Hypoglycemia, Hypotonia, Spastic tetraplegia, Opisthotonus, Neonatal hypotonia, ... |
OMIM:220120 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyelid morphology, Abn... |
ORPHA:2396 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplastic ane... |
ORPHA:221008 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Protruding ear, Long eyelashes, Long palpebral fissure, Umbilical hern... |
OMIM:614856 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Nevus, Lipoma |
OMIM:620189 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Sparse body hair, Decreased testicular size |
ORPHA:2234 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid... |
ORPHA:2108 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Hypoglycemia, Cryptorchidism, Hypotonia, Decreased ... |
OMIM:607143 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, ... |
OMIM:110100 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Cryptorchidism, Generalized hypotonia, Dystonia, Spasticity |
OMIM:613970 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Hypotonia, Choreoathetosis, Dystonia, Weakness of facial musculature, Spasticity |
OMIM:618088 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Hypertonia, Dyston... |
OMIM:261640 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Synophr... |
OMIM:193500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu... |
OMIM:616897 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circul... |
OMIM:276700 |
Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thickened helices... |
OMIM:616368 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Intention tremor, Torticollis, Head tremor, Dystonia |
OMIM:613724 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... |
ORPHA:373 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Broad nail, Skin ulcer, Hepati... |
ORPHA:1334 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Spasticity, Skeletal muscle atrophy, Dystonia |
OMIM:500001 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ... |
OMIM:614008 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Abnormal morphology of right ventricular trabeculae, Acanth... |
OMIM:601214 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Patchy alopecia, Sparse hair, Downsl... |
OMIM:302960 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Spasticity, Generalized dystonia, Hepatomegaly |
OMIM:618235 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypotonia, Dystonia, Cholelithiasi... |
OMIM:619273 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Limb hypertonia |
OMIM:617384 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Epicanthus, Inguinal hernia, Camptodactyly of finger... |
ORPHA:1507 |
Marshall Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairment, Wide nasal bridge, Sparse hai... |
ORPHA:560 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Hypotonia, Generalized hypotonia |
OMIM:616355 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Decreased r... |
ORPHA:1896 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Preauricular pit, Torticollis, Hypoglycemia, Cryptorchidism, Low anterior hairline, Hypotonia, Ch... |
OMIM:620224 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Decreased response... |
ORPHA:293978 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormone stimulation test,... |
ORPHA:226307 |
Leukodystrophy, Hypomyelinating, 16 |
|
Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Failure to thrive, Intention tremor |
OMIM:617964 |
Holoprosencephaly |
|
Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congenital diaphragma... |
ORPHA:2162 |
Weaver Syndrome |
|
Deep-set nails, Epicanthus, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele test... |
OMIM:277590 |
Giant Cell Arteritis |
|
Ptosis, Alopecia, Skin ulcer, Conductive hearing impairment, Hearing impairment |
ORPHA:397 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Epicanthus, Telecanthus, Abnormal dental enamel morphology, Lip pit, Panc... |
ORPHA:2750 |
Cranioectodermal Dysplasia 3 |
|
Telecanthus, Short nail, Broad nail, Fine hair, Cutis laxa, Sparse hair, Dry skin |
OMIM:614099 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Dystonia |
OMIM:614820 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
Hengel-Maroofian-Schols Syndrome |
|
Foot joint contracture, Synophrys, Hypotonia, Dystonia, Spasticity, Thick eyebrow |
OMIM:619641 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... |
ORPHA:284 |
Adrenoleukodystrophy |
|
Alopecia, Hearing impairment |
OMIM:300100 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Flexion contracture, Protruding ear, Sparse hair, Cryptorchidism, Low-set ears, Umbili... |
OMIM:618332 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Myopathy, Acute hepatic failure, Dystonia |
ORPHA:254881 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Hypotonia, Dystonia, Left ventricular hypertrophy, Spasticity, Intention t... |
OMIM:614458 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ptosis, Alopecia, Sensorineural hearing impairment, Small earlobe, Ectropion |
ORPHA:98907 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont... |
ORPHA:158684 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death |
OMIM:620014 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Failure to thrive, Hypotonia, Dystonia |
OMIM:617954 |
Fucosidosis |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Hypotonia, Spastic tetra... |
OMIM:230000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Microno... |
ORPHA:309854 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Obesit... |
ORPHA:464282 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Low-set ears, S... |
OMIM:300661 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Hypotonia, Hypertonia, Generalized hypotonia, Pancreatitis |
OMIM:248600 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Generalized hypotonia, Anemia |
ORPHA:79076 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Hypotonia, Generalized hypotonia |
OMIM:248360 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Choreoathetosis, Lower limb spasticity, Torsion dystonia, Dystonia |
ORPHA:98811 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Sacral dimple, Highly arched eyebrow, Protruding ear, Congenital contracture, Long ey... |
ORPHA:261279 |
Sheehan Syndrome |
|
Hypoglycemia, Sparse axillary hair, Reduced circulating prolactin concentration, Sparse pubic hai... |
ORPHA:91355 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Spastic... |
ORPHA:20 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Inguinal hernia, Posteriorly rotated ears, Decreased response to growth hormone stimu... |
OMIM:213980 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Axial muscle stiffness, Rigidity, Dystonia |
ORPHA:240085 |
Kikuchi-Fujimoto Disease |
|
Erythematous macule, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:50918 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Hypomimic face, Dystonia, Spasticity, Limb hypertonia |
OMIM:615528 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Premature ... |
ORPHA:363618 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Dystonia |
OMIM:125370 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Osteoporosis, Rickets, Weight loss, I... |
OMIM:212750 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine ... |
OMIM:616878 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Foxg1 Syndrome |
|
Dystonia, Hypotonia, Choreoathetosis, Decreased body weight, Spasticity |
ORPHA:561854 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Osteoporosis, X... |
OMIM:232200 |
Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Wide nasal bridge, Secondary hyperparathyroidism, Enamel hypoplasia, Alopecia univers... |
OMIM:277440 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Elevated hemoglobin A1c, Sparse eyebrow,... |
OMIM:619127 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypotonia, Hepati... |
OMIM:216360 |
Oculodentodigital Dysplasia |
|
Epicanthus, Dry hair, Slow-growing hair, Abnormal pinna morphology, Blepharophimosis, Conductive ... |
OMIM:164200 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypotonia, Hypoglycemic seizures, Hepatic necrosis, Generalized hypoto... |
OMIM:231530 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Cupped ear, Lacrimal duct aplasia, Microti... |
OMIM:620193 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Tremor, Hypotonia, Dystonia |
OMIM:617916 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Cafe-au-lait spot, Macroorchidism, Enamel hypoplasia, Alopecia ... |
OMIM:618874 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Choreoathetosis, Amelogenesis imperfecta, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Roifman Syndrome |
|
Long palpebral fissure, Hip contracture, Downslanted palpebral fissures, Prominent eyelashes |
OMIM:616651 |
Truncus Arteriosus |
|
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... |
ORPHA:3384 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Cryptorchidism, Leg dystonia, Congenital foot contractures, Infantile axia... |
ORPHA:565624 |
Cohen Syndrome |
|
Thick hair, Abnormal eyelid morphology, Abnormal eyelash morphology, Cryptorchidism, Sensorineura... |
ORPHA:193 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail, Hearing impairment |
OMIM:619721 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Lack of facial subcutaneous fat,... |
ORPHA:2959 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine ... |
ORPHA:480864 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia |
OMIM:616029 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Leiomyosarcoma, Hepatoblastoma, Polyc... |
ORPHA:116 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Aortic valve stenosis, Left ventricular hypertrophy, Restricti... |
ORPHA:85451 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Hypot... |
OMIM:618891 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Head titubation, Generalized hypotonia, Dystonia, Progressive spasticity, Hirsutism |
ORPHA:527497 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Dystonia, Iron deficiency anemia, Generalized hypotonia, Decreased body weight |
OMIM:607906 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Hypoglycemia, Sparse axillary ... |
ORPHA:85138 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dystonia, Ge... |
ORPHA:101150 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Dystonia |
OMIM:617829 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Skin erosion, Parakeratosis, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplastic ane... |
ORPHA:221016 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Lower limb spasticity, Spastic paraplegia, Upper limb muscle weakne... |
OMIM:609195 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia |
ORPHA:1171 |
19P13.13 Microdeletion Syndrome |
|
Epicanthus, Cafe-au-lait spot, Long eyelashes, Low-set ears, Short nose, Macrotia, Downslanted pa... |
ORPHA:357001 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism... |
ORPHA:189427 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Sacral dimple, Palpebral edema, Hearing impairment, Hypoplastic toenails, Wide nasal ... |
OMIM:606232 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Epicanthus, Sparse eyelashes, Camptodacty... |
ORPHA:306542 |
Pyruvate Dehydrogenase Deficiency |
|
Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Hypotonia, Choreoathetosis, Mult... |
ORPHA:765 |
Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Supernumerary nipple, Hypotonia, Dystonia, Failure to thrive |
OMIM:617339 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Acanthosis nigricans, Tru... |
OMIM:616541 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Dystonia |
OMIM:618760 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Epicanthus, Telecanthus, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, L... |
OMIM:311200 |
Episodic Ataxia, Type 9 |
|
Dystonia |
OMIM:618924 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Atrophic scars, Sparse hair, Joint contracture, Dermal translucency |
OMIM:615349 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries |
ORPHA:1643 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Rigidity, Hypertonia, Limb dystonia, Hypomimic face |
OMIM:618824 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Patchy alopecia, Scaling skin, Cellulitis, Alopecia universalis |
OMIM:606367 |
Roifman Syndrome |
|
Long palpebral fissure, Hip contracture, Prominent eyelashes, Hyperconvex nail |
ORPHA:353298 |
Acth Deficiency, Isolated |
|
Cholestasis, Adrenocorticotropic hormone deficiency, Fasting hypoglycemia, Jaundice |
OMIM:201400 |
Birk-Barel Syndrome |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Long eyelashes, Highly arched eyebrow |
OMIM:612292 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... |
OMIM:145250 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hearing impairment |
ORPHA:412057 |
Seckel Syndrome |
|
Sparse scalp hair, Craniosynostosis, Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... |
OMIM:608022 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia |
OMIM:612390 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Spasticity, Dystonia |
OMIM:610246 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Delayed epiphyse... |
OMIM:616007 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Axial hypotonia, Brittle hair, Diastasis recti, Increa... |
OMIM:252500 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Generalized a... |
ORPHA:171 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Facial myokymia, Head tremor, Action tremor |
OMIM:604326 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Osteomalacia, Elevated circulating aspartate a... |
OMIM:227810 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation... |
ORPHA:26793 |
Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Synophrys, Hypotonia, Dystonia, Umbilical hernia, Failure to thrive, Hirsutism |
OMIM:616977 |
Baker-Gordon Syndrome |
|
Choreoathetosis, Neonatal hypotonia, Dystonia |
OMIM:618218 |
Shigellosis |
|
Failure to thrive in infancy, Hypoglycemia, Leukocytosis, Rhabdomyolysis, Peritonitis, Cholestasi... |
ORPHA:810 |
Leukonychia Totalis |
|
Abnormal fingernail morphology, Abnormal eyelash morphology, Adenoma sebaceum, Abnormal toenail m... |
ORPHA:2387 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Synophrys, Flexion contracture, Low anterior hairline, Wide nasal bridge... |
OMIM:617303 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia |
OMIM:312170 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Hypotonia, Dystonia |
OMIM:618497 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Writer's cramp, Dystonia |
ORPHA:98809 |
Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Hypomimic face, Hypertonia, Dystonia, Limb hypertonia |
ORPHA:238455 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Generalized hypotonia, Dystonia |
ORPHA:98756 |
Hajdu-Cheney Syndrome |
|
Telecanthus, Inguinal hernia, Abnormal fingernail morphology, Synophrys, Low anterior hairline, W... |
ORPHA:955 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Hypotonia, Weight loss |
OMIM:620045 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Dystonia, Distal lower limb mus... |
ORPHA:459033 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Fasting hypoglycemia, Hepat... |
ORPHA:348 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Hemidystonia, Hypotonia, Limb dystonia, Spasticity, Failure to thrive, ... |
ORPHA:508093 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent eyelashes, Wide nasal bridge, Upslanted palpebral fissure, Long palpebral fissure, Shor... |
OMIM:619179 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Dystonia |
OMIM:301107 |
Liang-Wang Syndrome |
|
Macroglossia, Synophrys, Axial hypotonia, Dystonia |
OMIM:618729 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology |
ORPHA:93160 |
Juvenile Huntington Disease |
|
Rigidity, Weight loss, Oral motor hypotonia, Dystonia |
ORPHA:248111 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Dystonia |
OMIM:619150 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Axial hypotonia, Spastic tetraparesis, Hypotonia, Decreased liver ... |
OMIM:616299 |
Juvenile Dermatomyositis |
|
Alopecia, Palpebral edema, Erythema, Skin ulcer, Dry skin |
ORPHA:93672 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Tremor, Rigidity, Decreased liver function, Cirrhosi... |
OMIM:613280 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Dermal atrophy, L... |
OMIM:234100 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypoglycemia, Sparse axillary hair, Hypotonia, Weight loss, Increased circulat... |
ORPHA:95409 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Decreased circulating ferritin ... |
OMIM:606159 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Thin skin, Hearing impairment |
OMIM:166200 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Sparse eyelashes, Hooded eyelid, Cupped ear, Low posterior hairlin... |
OMIM:612863 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dystonia, Li... |
OMIM:233910 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Macroglossia, Hypertonia, Dystonia, Spasticity |
OMIM:615809 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Microcytic anemia, Choreoathetosis, Hypertonia, Hypochromic anemia, Dystonia, Sp... |
OMIM:618451 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Adenoma sebaceum, Telecanthus, Melanocytic nevus |
ORPHA:2612 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Acanthocytosis, Limb... |
OMIM:200150 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Small for gestational age, Tremor, A... |
OMIM:133540 |
Isolated Agammaglobulinemia |
|
Skin ulcer, Cellulitis |
ORPHA:229717 |
Dystonia 28 |
|
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Oromandibular dystonia |
ORPHA:589618 |
Laron Syndrome |
|
Truncal obesity, Hypoglycemia |
ORPHA:633 |
Sotos Syndrome |
|
Sparse eyebrow, Cryptorchidism, Hypotonia, Increased body weight, Glucose intolerance, Small nail... |
OMIM:117550 |
Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Dystonia, Facial palsy, Rigidity, Head titubation, Choreoathetosis, Progressive ... |
OMIM:608804 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Tremor, Thrombocytopenia, Spastic tetraplegia, Athetosis, Generalized amyo... |
ORPHA:572798 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Neutropenia, H... |
OMIM:615471 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Nasolacrimal duct obstruction, Nail dyst... |
OMIM:224230 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Axial hypotonia, Dystonia, Albinism, Splenomegaly, Generalized hypotonia, Neutropenia |
OMIM:617050 |
Chime Syndrome |
|
Epicanthus, Hearing impairment, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Spa... |
ORPHA:3474 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Facial myokymia, Dystonia, Limb hype... |
OMIM:606703 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Nevus, Arthro... |
OMIM:605275 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dista... |
OMIM:619653 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Increased body weight, Erythematous plaque, Skin vesicle, Eryth... |
ORPHA:64745 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Dystonia 16 |
|
Torticollis, Postural tremor, Limb dystonia |
ORPHA:210571 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Dystonia |
OMIM:618646 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ... |
ORPHA:2273 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Axial hypotonia, Dry hair, Diastasis recti, Craniosynostosis, S... |
ORPHA:576 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Torsion dystonia |
OMIM:314250 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia |
OMIM:618418 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Hypo... |
OMIM:252010 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure |
OMIM:616483 |
Harel-Yoon Syndrome |
|
Axial hypotonia, Hypotonia, Distal amyotrophy, Dystonia, Spasticity |
OMIM:617183 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null ... |
ORPHA:97289 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteolytic defects of the phalanges of the hand |
OMIM:615632 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia |
OMIM:619025 |
Restrictive Dermopathy |
|
Telecanthus, Entropion, Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse ... |
ORPHA:1662 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypotonia, Hypertonia, Generalized hypotonia, Dystonia, Left ventricular hypertrophy, Decreased l... |
OMIM:614654 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Wide nasal bridge, Long eyelashes, Long palpebr... |
OMIM:615803 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic dysarthria, Spasticity, Dystonia |
ORPHA:314603 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Hypotonia, Choreoathetosis, Joint contracture, Dystonia, Spasticity |
OMIM:617664 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Splenomegaly,... |
OMIM:612132 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Hypoglycemia, Nevus, Thin nail, Concave nail, Rhabdomyosarcoma, Wide ... |
OMIM:218040 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Synophrys, Hypotonia, Appendicular hypotonia, Dystonia, Thick eyebrow, Intention tremor |
OMIM:616127 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Epicanthus, Posteriorly rotated ears, Elevated circulating luteinizing hormone level... |
OMIM:618419 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616277 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Axial hypotonia, Dysto... |
ORPHA:51 |
Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Paroxysmal dystonia, Spasticity |
OMIM:606777 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Telecanthus, Epicanthus, Inguinal hernia, Highly arched eyebrow, Uplifted earlobe, Conductive hea... |
OMIM:280000 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Axial hypotonia, Choreoathetosis, Dystonia |
OMIM:619422 |
Mycetoma |
|
Subcutaneous nodule, Osteoporosis, Bone cyst, Abnormality of the lymphatic system, Cobblestone-li... |
ORPHA:2583 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short nail, Bilateral ptosis, Sensorineural hearing impairment... |
ORPHA:324540 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Dystonia, Hip flexor weakness, Increased s... |
ORPHA:845 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Abnormal skeletal muscle morphology, Nodular goiter, Goiter |
ORPHA:142 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spastic dysarthria, Abnormal mitochondria in muscle tissue, Distal amyotrophy, Dystonia, Spastic ... |
ORPHA:313772 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Decreased body weight, Failure to thrive, Skin erosion, Flexion contract... |
ORPHA:89842 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Corneal scarring, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Dystonia |
OMIM:600116 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Hemolytic anemia, Axial hypotonia, Generalized lymphadenopathy, Pancytopen... |
OMIM:615846 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Cutaneous sclerotic plaque, Localized skin lesion, Fl... |
ORPHA:90289 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Postural tremor, Rigidity, Dystonia |
ORPHA:314632 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Skeletal muscle hypert... |
OMIM:602124 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Cupped ear, Low posterior hairline, Protruding ear, Microtia, Long eyelash... |
OMIM:156200 |
3-Methylglutaconic Aciduria, Type I |
|
Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:250950 |
Cdags Syndrome |
|
Sparse scalp hair, Ptosis, Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairment, Ec... |
OMIM:603116 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Dystonia, Joint contracture, Thick eyebrow |
OMIM:617762 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Thickened skin, Melanocytic nevus, W... |
ORPHA:79430 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Rigidity, Generalized hypotonia, Dystonia |
OMIM:617836 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Dystonia, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Dystonia |
OMIM:612951 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Cr... |
ORPHA:1272 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Splenomegaly, Hypotonia, Pr... |
OMIM:257220 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology, Erythema, Ski... |
ORPHA:221 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Epicanthus, Synophrys, Achilles tendon contracture, Nail pits, Knee flexion contracture, Large ea... |
OMIM:618076 |
Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Tremor, Spastic paraplegia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Spas... |
OMIM:618527 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Dystonia |
OMIM:605909 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Cryptorchidism, Adrenocorticotropic hormone excess, Increased circulating ... |
ORPHA:90791 |
Acute Radiation Syndrome |
|
Skin ulcer, Hyperkeratosis, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Fasting hypoglycemia, Elevated creat... |
ORPHA:159 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Thick hair, Wide anterior fontanel, Hypotonia, Athetosis, Dystonia, Spasticity |
ORPHA:357058 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L... |
ORPHA:93958 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Increased circulating creatine k... |
OMIM:617595 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Wide nasal bridge, Fine ... |
ORPHA:444072 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Blepharophimosis, Eyelid coloboma, Abnor... |
ORPHA:3339 |
Aica-Ribosuria Due To Atic Deficiency |
|
Skin dimple, Hypoglycemia, Hypotonia |
OMIM:608688 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Hypotonia, Dystonia |
ORPHA:139485 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Diabetes mellitus, Small for gestational age, Hypotonia, Nail dysplasia, Small nail, ... |
OMIM:614813 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Hypoglycemia |
ORPHA:2158 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Neonatal hypotonia, Spastic paraplegia, Spastic tetraplegia, Dystonia |
OMIM:245349 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Long eyelashes, Low-set ears, Ar... |
OMIM:617301 |
Cowden Syndrome |
|
Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Bone cyst, Hypopigmented skin patches, ... |
ORPHA:201 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Sarcoidosis |
|
Increased T cell count, Subcutaneous nodule, Leukopenia, Hemolytic anemia, Alopecia, Hepatomegaly... |
ORPHA:797 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating... |
ORPHA:370348 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail... |
ORPHA:2089 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hypotonia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:616034 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hirsutism |
OMIM:615962 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Spasticity, Hypotonia, Dystonia |
OMIM:251950 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum, Cellulitis, Elbow flexion contracture, Knee flexion contracture |
OMIM:604416 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Tremor, Hypertonia, Generaliz... |
ORPHA:352649 |
Spastic Ataxia 5, Autosomal Recessive |
|
Distal amyotrophy, Increased intramyocellular lipid droplets, Dystonia, Spastic paraparesis, Spas... |
OMIM:614487 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Branchiooculofacial Syndrome |
|
Postauricular pit, Premature graying of hair, Conductive hearing impairment, Sparse hair, Hypopla... |
OMIM:113620 |
Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Long eyebrows, Widow's peak, Wide nasal bridge, Long eyelashes, S-shape... |
OMIM:201180 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Dacryocystitis, Fine hair, Low-set ears, Sparse hair, Short nose, Downslanted pal... |
ORPHA:251028 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Small for ... |
ORPHA:404454 |
Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Sensorineural hearing impairment |
OMIM:253260 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Failure to thrive, Generalized hypotonia, Dystonia |
OMIM:617873 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmop... |
ORPHA:79501 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Epicanthus, Telecanthus, Sacral dimple, Cryptorchidism, Wide nasal bridge, Webbed ne... |
OMIM:616894 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Conductive hearing impairment, Severe sensorineural hearing impairment, Sparse hair, Preauricular... |
OMIM:620186 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... |
ORPHA:90362 |
Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... |
ORPHA:732 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Diabetes mellitus, Tremor, Hypertonia, Dystonia |
ORPHA:96 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Small for gestational age, Hypotonia, Dystonia |
ORPHA:79243 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Flexion cont... |
ORPHA:90291 |
Beta-Thalassemia |
|
Cholelithiasis, Pallor, Skin ulcer |
ORPHA:848 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Conductive hearing impairment, Up... |
OMIM:154500 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Hypotonia, Cho... |
OMIM:312080 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Failure to thrive, Dystonia |
OMIM:300475 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Woolly hair, Synophrys, Simpl... |
OMIM:618268 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypoglycemia, Chronic neutropenia, Osteoporosis, Hepatocellular adenoma... |
ORPHA:79259 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Hypotonia, Choreoathetosis, Dystonia, Neonatal hypotonia |
OMIM:245348 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Axial hypotonia, Head titubation, Increased circulating ferritin concentration, Vestibular arefle... |
ORPHA:3240 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Rigidity, Hypotonia, Blepharospasm, Athetosis, Dystonia, Spasticity, Fail... |
OMIM:617282 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Synophrys, Dystonia, Infantile muscular hypotonia, Intention tremor |
ORPHA:453521 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Infantile Convulsions And Choreoathetosis |
|
Choreoathetosis, Athetosis, Dystonia |
ORPHA:31709 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Entropion, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Thin ey... |
OMIM:609944 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Athetosis, Spasticity, Generalized hypotonia, Dystonia |
OMIM:617493 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Athetosis, Rigidity, Dystonia |
OMIM:213600 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Pneumothorax, Partial anomalous pulmonary ven... |
ORPHA:95430 |
Mixed Connective Tissue Disease |
|
Keratoconjunctivitis sicca, Alopecia, Purpura |
ORPHA:809 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis |
ORPHA:79452 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Dystonia, Rigidity, Spastic paraparesis |
ORPHA:329284 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Distal amyotrophy, Hypoalbuminemia, D... |
OMIM:208920 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Hypotonia, Obesity, Hypoglycemic seizures, Gen... |
OMIM:616364 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Athetosis, Spastic tetraplegia, Hypotonia, Dystonia |
OMIM:619922 |
Mucolipidosis Iv |
|
Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:252650 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Hepatomegaly, Tremor, Cryptorchid... |
OMIM:216400 |
Desmosterolosis |
|
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Rigidity, Splenomegaly, Hypertoni... |
ORPHA:35107 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Long eyelashes, Wide nasal bridge |
OMIM:617952 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Distichiasis, Pallor |
OMIM:600462 |
Fryns-Smeets-Thiry Syndrome |
|
Hypotonia, Cachexia |
ORPHA:2058 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, El... |
ORPHA:160 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Splenomegaly, Prolonged neonatal ja... |
OMIM:225750 |
Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
Irida Syndrome |
|
Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis |
ORPHA:209981 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... |
OMIM:617022 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:612438 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Cachexia, Osteoporosis, Hypotonia, Slender ... |
ORPHA:558 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia |
OMIM:230650 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, Choreoathetosis, Hypertonia, Dystonia |
OMIM:308350 |
4H Leukodystrophy |
|
Tremor, Decreased response to growth hormone stimulation test, Dystonia |
ORPHA:289494 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Rigidity, Spasticity, Decreased body weight, Dystonia |
OMIM:617672 |
Leukocyte Adhesion Deficiency Type Ii |
|
Palpebral edema, Scarring, Low anterior hairline, Wide nasal bridge, Skin vesicle, Microtia, Long... |
ORPHA:99843 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Abnormal earlobe morphology, Promine... |
ORPHA:79329 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Dystonia |
OMIM:616684 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Cryptorchidism, Hypotonia, Dystonia, Failure to thrive |
ORPHA:88639 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
Coffin-Siris Syndrome |
|
Ptosis, Sparse scalp hair, Thick eyebrow, Hearing impairment, Cryptorchidism, Hypoplastic fifth f... |
ORPHA:1465 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Continuous Spikes And Waves During Sleep |
|
Dystonia |
ORPHA:725 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low anterior hairline, Thickened helices, Wide nasal bridge, Low-set ears, Nevus, Long palpebral ... |
OMIM:619950 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... |
OMIM:617156 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Hypotonia, Dystonia |
ORPHA:382 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Failure to thrive, Hypoglycemia |
OMIM:614736 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Craniofacial oste... |
ORPHA:324964 |
Atypical Rett Syndrome |
|
Tremor, Hypotonia, Pill-rolling tremor, Abnormal muscle tone, Dystonia, Neonatal hypotonia, Spast... |
ORPHA:3095 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2671 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Epiphyseal stippling, Co... |
OMIM:118650 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Decreased tes... |
OMIM:241080 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia |
OMIM:618247 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sacral dimple, Abnormally ossified vertebrae, Sparse eyebrow, Abnormality of the pa... |
ORPHA:175 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Primary testicular failure,... |
ORPHA:85450 |
Spinocerebellar Ataxia 14 |
|
Facial myokymia, Focal dystonia |
OMIM:605361 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Dermal atrophy, Cachexia |
ORPHA:220295 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis, Weight loss |
ORPHA:704 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Spastic paraplegia, Spastic tetraparesis, Dystonia |
OMIM:612319 |
Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Axial hypotonia, Hypotonia, Dystonia |
OMIM:619317 |
Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypotonia, Failure to thrive, Abnormal mitochondri... |
ORPHA:2609 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
Mullegama-Klein-Martinez Syndrome |
|
Preauricular pit, Curly eyelashes, Congenital diaphragmatic hernia, Sensorineural hearing impairm... |
OMIM:301022 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur... |
OMIM:305000 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, Weight los... |
ORPHA:514 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Dystonia |
OMIM:615473 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... |
ORPHA:94086 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:617668 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Flexion contracture, Protruding ear, Upslanted palpebral fissure, Patchy alopecia... |
OMIM:300534 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Hypotonia, Dystonia |
OMIM:620094 |
Calciphylaxis |
|
Skin ulcer, Secondary hyperparathyroidism, Cellulitis |
ORPHA:280062 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Hypotonia, Dystonia |
OMIM:619157 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Posteriorly rotated ears, Joint contracture of the 5th finger, Sparse hair, Absent ea... |
OMIM:619934 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm dystonia, Dyston... |
ORPHA:157846 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Tremor, Choreoathetosis, Dystonia, Spasticity |
OMIM:612716 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Inguinal hernia, Blepharophimosis, ... |
OMIM:613610 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Hand tremor, Dystonia |
OMIM:615889 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypotonia |
OMIM:229700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Conductiv... |
ORPHA:444077 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Skin erosion |
OMIM:620148 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Right atrial enlargement, Left ventricular h... |
ORPHA:57777 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Protruding ear, Bi... |
ORPHA:3464 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Curly eyelashes, Flexion contracture, Wide nasal bridge, Upslanted palpebral fissure, Microtia, B... |
OMIM:611717 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... |
ORPHA:95613 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia |
ORPHA:95496 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sparse eyebrow, Hirs... |
ORPHA:496641 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom... |
OMIM:267000 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Generalized hypotonia, Dystonia |
ORPHA:306669 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Choreoathetosis, Viral infection-induced rhabdomyolysis, Lower limb hyperton... |
ORPHA:2524 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:619355 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Spasticity, Dystonia |
ORPHA:79263 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Increased hepato... |
OMIM:220111 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly, Pulmonary edema |
OMIM:105210 |
Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:208447 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Head titubation, Hypotonia, Limb dystonia, Spasticity |
OMIM:617560 |
Ring Chromosome 13 Syndrome |
|
Epicanthus, Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Wide nasal bridge,... |
ORPHA:96176 |
Alstrom Syndrome |
|
Progressive sensorineural hearing impairment, Alopecia, Multinodular goiter, Decreased response t... |
OMIM:203800 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Blepharophimosis, Sensorineural hearing impairment, Long eyelashes, Short palpebral fissure |
OMIM:606056 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Skeletal muscle atrophy, Dystonia |
ORPHA:101006 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Dystonia |
OMIM:618141 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Hypoplastic toenails, Hypotonia, Myopathy, Limb dystonia, Increased variability in ... |
OMIM:604377 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Bila... |
ORPHA:466722 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Generalized hypotoni... |
ORPHA:98755 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia |
ORPHA:99657 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Skeletal muscle atrophy, Cachexia, Melanocytic nevus |
ORPHA:1969 |
Leukodystrophy, Hypomyelinating, 15 |
|
Athetosis, Dystonia, Spasticity, Failure to thrive, Intention tremor |
OMIM:617951 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of... |
ORPHA:285 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Weight los... |
ORPHA:139402 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Flexion contracture, Nasola... |
OMIM:147791 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis |
OMIM:126320 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Conjunctivitis, Webbed neck, Distichiasis, Ectropion |
ORPHA:33001 |
Relapsing Polychondritis |
|
Macule, Alopecia, Chondritis of pinna, Sensorineural hearing impairment, Erythema, Conjunctivitis... |
ORPHA:728 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Jaundice, Neutropenia, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia, Neonatal d... |
OMIM:617248 |
Hajdu-Cheney Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Short nail, Inguinal hernia, Cryptorchidism, Synophrys, L... |
OMIM:102500 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Hypotonia, Macroglossia, Umbilical hernia |
OMIM:614501 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hyperpigmented nevi |
ORPHA:79432 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, St... |
ORPHA:1501 |
Marshall-Smith Syndrome |
|
Omphalocele, Brittle hair, Highly arched eyebrow, Hearing impairment, Bilateral cryptorchidism, C... |
OMIM:602535 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Sensorineural hearing impairment, Conjunctivitis, Dermal atroph... |
OMIM:278700 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Webbed neck, Left ventricular hypertr... |
OMIM:616564 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Hypotonia, Anemia |
ORPHA:230 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Inguinal hern... |
OMIM:308205 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Axial hypotonia, Failure to thrive, Hepatomegaly, Anisocytosis... |
OMIM:618278 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Spasticity, Dystonia |
OMIM:618917 |
Fusariosis |
|
Fasciitis, Paronychia, Subcutaneous nodule, Skin ulcer, Panniculitis, Cellulitis, Skin detachment... |
ORPHA:228119 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Epicanthus, Numerous nevi, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Epicanthus, Numerous nevi, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363958 |
Biotinidase Deficiency |
|
Alopecia, Sensorineural hearing impairment, Conjunctivitis, Hearing impairment |
ORPHA:79241 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hypoglycemia, Jaundice, Macroorchidism, Failure to thrive |
ORPHA:90790 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Recurrent tonsillitis, Weight loss, Increased circulating renin lev... |
ORPHA:171876 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Dystonia |
ORPHA:98757 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Hyperglycemia, Fa... |
ORPHA:3008 |
Spinocerebellar Ataxia Type 11 |
|
Dystonia |
ORPHA:98767 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Microvesicular hepatic steatosis, Hypotonia, Opisthotonus, Dystonia, F... |
OMIM:616672 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Focal dystonia, Agammaglobulinemia, Dystonia, Oromandibular dystonia |
ORPHA:52368 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Osteoporosis, Myop... |
OMIM:307030 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Erythematous plaque, Parakeratosis |
OMIM:618531 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Yellow nails, Webbed neck, Conjunctivitis, Cellulitis, Distichiasis, Ectropion |
OMIM:153400 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Spasticity, Congenital contracture, Dystonia, Type I diabetes mellitus, Arth... |
OMIM:618397 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97282 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Dystonia, Infantile muscular hypotonia, Limb hypertonia |
ORPHA:500180 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h... |
OMIM:614162 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... |
OMIM:604292 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hepatic calcifi... |
ORPHA:157 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Dystonia, Neonatal hypotonia, Failure to thriv... |
ORPHA:431361 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Hypotonia, Prolonged neonatal jaund... |
OMIM:607625 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Failure to thrive, Hypotonia, Dystonia |
OMIM:250620 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail, Webbed ... |
ORPHA:99776 |
Bullous Pemphigoid |
|
Macule, Diabetes mellitus, Psoriasiform dermatitis, Weight loss |
ORPHA:703 |
Renpenning Syndrome 1 |
|
Epicanthus, Brittle hair, Telecanthus, Hearing impairment, Cupped ear, Wide nasal bridge, Protrud... |
OMIM:309500 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Conductive ... |
OMIM:605627 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Hypotonia, Dystonia, Spasticity, Hypomimic face |
OMIM:617854 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Contractures... |
ORPHA:521426 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Limb tremor, Focal dystonia... |
ORPHA:420492 |
Huntington Disease |
|
Rigidity, Weight loss, Decreased body mass index, Dystonia |
ORPHA:399 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hypotonia, Neonatal hypoglycemia |
OMIM:617600 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Hypo... |
ORPHA:144 |
Cranioectodermal Dysplasia 1 |
|
Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Inguinal hernia, Wide nasal br... |
OMIM:218330 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopituitarism, Reduced circulating prolactin c... |
OMIM:262600 |
Omenn Syndrome |
|
Alopecia, Hypoplasia of the thymus |
OMIM:603554 |
Leukodystrophy, Hypomyelinating, 25 |
|
Hypotonia, Dystonia |
OMIM:620243 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Telecanthus, Abnormal eyelash morphology, Webbed neck, Downslanted palpebral fissure... |
ORPHA:3164 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Flexi... |
ORPHA:2908 |
Spinocerebellar Ataxia 17 |
|
Rigidity, Dystonia, Intention tremor |
OMIM:607136 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Huntington Disease-Like 3 |
|
Spasticity, Flexion contracture, Dystonia |
OMIM:604802 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Opisthotonus, Cogwheel rigidity, Hyp... |
OMIM:607483 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, Infantile muscular... |
ORPHA:457351 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Tremor, Rigidity, Progressive extrapyramidal muscular rigidity, Focal dystonia |
ORPHA:240103 |
Huntington Disease-Like 3 |
|
Spasticity, Extrapyramidal muscular rigidity, Flexion contracture, Dystonia |
ORPHA:157946 |
Dystonia 9 |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
OMIM:601042 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Neutrophilia, Facial palsy, Tremor, Elbow flexion contracture, Cogwheel ... |
ORPHA:79139 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia |
OMIM:619724 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hooded eyelid, Anterior pituitary hypoplasia, Uplifted earlobe, Synophrys, Low anterior hairline,... |
OMIM:619841 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Onycholysis, Goiter |
OMIM:275000 |
Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Ptosis, Hearing impairment, Wide nasal bridge, Long eyelashes, Thick eyebrow, ... |
OMIM:614609 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis |
OMIM:615225 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular hypertrophy, Hypertroph... |
ORPHA:308552 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:779 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Osteopenia, Dystonia, Acanthocytosis, Rigidity, Leg dystonia, Choreoathe... |
ORPHA:157850 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Spastic paraplegia, Hypotonia, Dystonia |
ORPHA:254913 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Pheochromocytoma, Blu... |
ORPHA:2874 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Axial hypotonia, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Hyperto... |
OMIM:619124 |
Folinic Acid-Responsive Seizures |
|
Hypertonia, Spastic tetraparesis, Dystonia |
ORPHA:79097 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Skeletal muscle atrophy, Tremor, Dystonia, Spastic paraparesis |
OMIM:615157 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis |
OMIM:615023 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Curly eyelashes, Highly arched eyebrow, Abnormal incisura morphology, Cryptorchi... |
OMIM:122470 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Neonatal hypotonia, Failure to thrive in infancy, Sparse eyebrow, Dystonia |
OMIM:618829 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Episodic generalized hypotonia, Arm dystonia, Hypotonia, Dystonia |
OMIM:601338 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, Simple ear, Highly arched eyebrow, Cryptorchidi... |
OMIM:619325 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... |
ORPHA:75565 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
ORPHA:53583 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Hypo... |
ORPHA:440437 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Athetosis, Fasting hypoglycemia, Limb dyst... |
ORPHA:25 |
Kabuki Syndrome 1 |
|
Preauricular pit, Posteriorly rotated ears, Highly arched eyebrow, Hearing impairment, Sparse eye... |
OMIM:147920 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Sacral dimple, Redundant neck skin, Short nose, Pseudohypoparathyroidism, Wide nasal ... |
OMIM:617157 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Eunuchoid habitus, Osteopenia, Cryptorchidism, Osteoporosis, Breast hy... |
ORPHA:432 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pa... |
OMIM:619991 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism |
OMIM:603903 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Small for gestational age, Shoulder dimple, Decreased response to growth h... |
ORPHA:96182 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Parakeratosis, Biliar... |
ORPHA:83617 |
Filippi Syndrome |
|
Supernumerary nipple, Cryptorchidism, Hypotonia, Aplastic/hypoplastic toenail, Small nail, Limb d... |
ORPHA:3255 |
Infantile Neuroaxonal Dystrophy |
|
Axial hypotonia, Spastic tetraparesis, Flexion contracture, Progressive spasticity, Dystonia, Spa... |
ORPHA:35069 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Axial hypotonia, Low anterior hairline, Generalized hypotonia, Dystonia, Limb hypertonia |
OMIM:616875 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ... |
ORPHA:2556 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Hypotonia, Weight loss, Lower-li... |
ORPHA:99885 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circ... |
ORPHA:99867 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Choreoathetosis, Dystonia, Failure to... |
ORPHA:261197 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure... |
ORPHA:79128 |
Xeroderma Pigmentosum Variant |
|
Dry skin, Dermal atrophy |
ORPHA:90342 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone mineral density, Portal ... |
OMIM:619377 |
Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity |
OMIM:619125 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypotonia, Left ventricular noncompaction, Neonatal death, Dystonia, Left ventricul... |
OMIM:619167 |
Partington Syndrome |
|
Macroorchidism, Lower limb spasticity, Limb dystonia |
ORPHA:94083 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries |
ORPHA:90795 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis, Multiple ... |
ORPHA:276280 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Spasticity, Facial hypotonia, Hypotonia, Dystonia |
OMIM:617807 |
Developmental And Epileptic Encephalopathy 49 |
|
Macrotia, Long eyelashes, Thick eyebrow |
OMIM:617281 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior... |
ORPHA:90695 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis |
OMIM:618775 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Synophrys, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Sacral dimple, Congenital diaphragmatic herni... |
ORPHA:96121 |
Neuroocular Syndrome |
|
Sacral dimple, Brittle hair, Highly arched eyebrow, Lagophthalmos, Unilateral deafness, Synophrys... |
OMIM:619539 |
Kufor-Rakeb Syndrome |
|
Torticollis, Tremor, Rigidity, Spastic paraplegia, Leg muscle stiffness, Hypertonia, Dystonia, Sp... |
OMIM:606693 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Hypotonia, Myopathy, Atrophic scars, Type 1... |
OMIM:614557 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Rhabdomyolysis, Goiter |
OMIM:188580 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Thin skin, Striae distensae |
ORPHA:60030 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis, Erythema, Tinnitus, Hearing impairment |
ORPHA:79098 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Telecanthus, Thick hair, Flexion contracture, Long eyelashes, Conjunctivitis, Hernia,... |
ORPHA:505248 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight lo... |
ORPHA:729 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Inguinal hernia, Hearing impairment, Bilateral cryptorchidism, Redundant skin ... |
OMIM:150230 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Protruding ear, Sparse eyebrow, ... |
OMIM:300855 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Weigh... |
ORPHA:361 |
Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Neonatal hypoglycemia, Hypotonia, Reduced circulating prolactin c... |
OMIM:223360 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia, Dystonia |
OMIM:105300 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Keratoconjunctivitis |
OMIM:269200 |
Wrinkly Skin Syndrome |
|
Epicanthus, Inguinal hernia, Short nail, Redundant skin, Cryptorchidism, Neonatal wrinkled skin o... |
OMIM:278250 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Writer's cramp, Rigidity, Blepharospasm, Dystonia, Spasticity |
ORPHA:98759 |
Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ma... |
ORPHA:85443 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, He... |
ORPHA:781 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Trichiasis, Highly arched eyebrow, Epiblepharon, Sensorineural hearing impairment,... |
OMIM:618460 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ... |
ORPHA:98805 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Inguinal hernia, Acanthocytosis, Flexion contracture, Elbow flexion contractur... |
OMIM:618947 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Axial hypotonia, Advanced ossification of carpal bones, Limb dystonia |
OMIM:620269 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Congenital diaphragmatic hernia, Lip pit, Cryptorchidism, Sensorin... |
ORPHA:2322 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Brucellosis |
|
Hepatomegaly, Failure to thrive, Liver abscess, Small for gestational age, Elevated circulating C... |
ORPHA:1304 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Tremor, Spasticity, Postural tremor, Dystonia |
OMIM:607694 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Flexion contracture, Hypoplasia of the ovary, Short nose, Decreas... |
OMIM:619321 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Dystonia |
ORPHA:13 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Sacral dimple, Highly arched eyeb... |
ORPHA:363611 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Hypotonia, Spastic tetraplegia, Opisthotonus, Hyperton... |
OMIM:619847 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Megaloblastic anemia, Jaundice, Hypotonia, Neutropenia, Failure to thrive, Thromboc... |
ORPHA:79282 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Cryptorchidism, Wide nasal bridge, Coarse hair, Sparse hair |
OMIM:607812 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Xanthelasma, Xanthomatosis,... |
OMIM:232240 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Spastic dysarthria, Dystonia, Spasticity, Intention tremor |
ORPHA:447896 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Lower limb hypertonia, Dystonia, Infantile axial hypotonia, Intention tremor |
ORPHA:438114 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia |
OMIM:300857 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic calcification, Generali... |
ORPHA:228308 |
Slc39A8-Cdg |
|
Osteopenia, Severe muscular hypotonia, Failure to thrive in infancy, Craniosynostosis, Elbow flex... |
ORPHA:468699 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Hypotonia, Reduced bone min... |
ORPHA:828 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Long eyelashes, Umbilical ... |
OMIM:618651 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Monosomy 22Q13.3 |
|
Epicanthus, Sacral dimple, Palpebral edema, Hearing impairment, Hypoplastic toenails, Wide nasal ... |
ORPHA:48652 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Wide nasal bridge, Long eyelashes, Low-set ears |
ORPHA:2008 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Premature graying of hair, Pallor, Hiatus hernia, Abnormal eyel... |
OMIM:619488 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Cryptorchidism, Sensorineura... |
OMIM:609136 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissu... |
OMIM:229400 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Low anterior hairline, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Livedoid Vasculopathy |
|
Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule |
ORPHA:542643 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Tremor, Sparse eyebrow, Cryptorchidism, Hypotonia, Distal arthrogryposis, Front... |
OMIM:617557 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating c... |
ORPHA:99826 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Hypotonia, Anisopoikilocy... |
ORPHA:35858 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Small for gestational age, Hiatus hernia, Hypotonia, Spastic tetraplegia, Hypoal... |
OMIM:251300 |
Leukoencephalopathy With Calcifications And Cysts |
|
Tremor, Spasticity, Dystonia |
ORPHA:542310 |
Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating... |
ORPHA:29073 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Localized skin lesion, Paraproteinemia,... |
ORPHA:91139 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Dystonia, Progressive spastic quadriplegia, Facial myokymia, Progressive... |
ORPHA:513436 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis, Spasticity, Dystonia |
OMIM:607236 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:614298 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Skin ulcer, Upslanted palpebral fissure, Pallor, Hypopituitarism |
ORPHA:231226 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cholecystitis, Dystonia, Failure to thrive, Infantile muscular hypotonia |
ORPHA:778 |
Choreoacanthocytosis |
|
Resting tremor, Muscle fiber atrophy, Hepatomegaly, Elevated circulating creatine kinase concentr... |
ORPHA:2388 |
Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Adrenal hyperplasia, Hypoglycemia, Hirsutism |
ORPHA:786 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia |
OMIM:618317 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Rigidity, Leg muscle stiffness, Hypomimic face |
ORPHA:391411 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Scaling skin, Nail dystrophy, Sparse hair, Alopecia universalis |
ORPHA:158668 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Goiter |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Small for gestational age, Hypotonia, Dystonia |
OMIM:620167 |
Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Hypotonia, Opisthotonus, Dystonia, Spasticity, Limb hypertonia |
OMIM:612389 |
Infantile Systemic Hyalinosis |
|
Subcutaneous nodule, Camptodactyly of finger, Skin ulcer, Polycystic ovaries |
ORPHA:2176 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Keratoconjunctiv... |
ORPHA:495875 |
Tyrosinemia Type 2 |
|
Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Oculoectodermal Syndrome |
|
Epicanthus, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, Wide nasal bridge, Pine... |
OMIM:600268 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Hypotonia, Choreoathetosis, Distal amyotrophy, Dystonia |
OMIM:604391 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Flexion contracture, Erythema, Intermittent generalized erythematous papular... |
ORPHA:99921 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Progressive flexion contractures, Rigidity, F... |
ORPHA:98808 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Titubation, Athetosis, Head tremor, Dystonia, S... |
ORPHA:280219 |
Adams-Oliver Syndrome 1 |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Aplasia cutis congenit... |
OMIM:100300 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Inguinal hernia, Nevus flammeus, Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge, Umb... |
OMIM:268310 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Bilateral cryptorchidism, Scissor gait, Choreoathetosis, Hy... |
OMIM:278800 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Elbow flexion contracture, Hypotonia, Focal dystonia, Spastic dysarthria, Spasti... |
ORPHA:447757 |
Familial Paroxysmal Ataxia |
|
Torticollis, Dystonia |
ORPHA:97 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te... |
OMIM:610644 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... |
ORPHA:520 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Dystonia |
OMIM:600795 |
Wrinkly Skin Syndrome |
|
Epicanthus, Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive skin wrinkling on dorsum of... |
ORPHA:2834 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Hemidystonia |
ORPHA:1929 |
Spinocerebellar Ataxia 34 |
|
Spasticity, Epidermal hyperkeratosis, Intention tremor |
OMIM:133190 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Hepatomegaly, Failure to thrive in infancy, Di... |
OMIM:219800 |
Pontocerebellar Hypoplasia, Type 2A |
|
Congenital contracture, Dystonia, Opisthotonus |
OMIM:277470 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Panniculitis, Pyoderma gangrenosum |
OMIM:608068 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Sensorineural hearing impairment, Acral ulceration |
OMIM:162400 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Lo... |
ORPHA:861 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Small for gestational age, Thin nail, Hypotonia, Neutrope... |
OMIM:617799 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Skin erosion, Paronychia, Skin plaque, Nail dystrophy, Aplasia cutis congenita, Enamel ... |
ORPHA:79404 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Pleural effusion |
OMIM:232300 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
High anterior hairline, Hypotonia, Hyperkeratosis, Generalized hypotonia, Spasticity |
OMIM:615510 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Axial hypotonia, Generalized dystonia, Spastic tetraplegia, Dystonia, Left ventricu... |
OMIM:618321 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum |
OMIM:150550 |
Toxic Epidermal Necrolysis |
|
Macule, Entropion, Erythema, Skin ulcer, Conjunctivitis |
ORPHA:537 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Cryptorchidism, Long eyelashes, Short nose, Short palpebral fissure |
OMIM:619005 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Generalized hypotonia, Intention tremor |
ORPHA:251347 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Frontal hirsutism, Simple e... |
OMIM:180849 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Long eyelashes |
OMIM:618476 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel... |
ORPHA:881 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Progressive spastic quadriplegia, Decerebrate rigidity, Generalized ... |
ORPHA:309271 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Epicanthus, Inguinal hernia, Posteriorly rotated ears, Nevus flammeus, Sacral dimple, Cryptorchid... |
OMIM:180700 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Cryptorchidism, Hypotonia, Dystonia, Decreased testicular size, Hypomi... |
OMIM:146390 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Spasticity, Generalized dystonia, Opisthotonus |
ORPHA:216866 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Osteoporosis, Adrenocorticotropic... |
ORPHA:168558 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Abnor... |
ORPHA:534 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Hepatomegaly, Dystonia, Bone-marrow foam cells, Tremor, Sp... |
ORPHA:646 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Tremor, Dystonia |
OMIM:617145 |
Perry Syndrome |
|
Tremor, Weight loss, Rigidity, Dystonia |
OMIM:168605 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Hepatosplenomegaly, Lymphadenopathy, Enthesitis, Weight loss, Anemia |
ORPHA:85408 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Dystonia, Axial hypotonia, Intention tremor |
OMIM:616140 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Tremor, Blepharospasm, Dystonia, Progressive extrapyramidal muscular rigidity, Ax... |
ORPHA:240071 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Osteoporosis, Adrenocorticotropic... |
ORPHA:289548 |
Stevens-Johnson Syndrome |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Acantho... |
ORPHA:36426 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior... |
ORPHA:95494 |
Reactive Arthritis |
|
Weight loss, Enthesitis, Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
Dystonia-Deafness Syndrome 1 |
|
Leg dystonia, Generalized dystonia, Small for gestational age, Oculogyric crisis |
OMIM:607371 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Sensorineural hearing impairment, Skin ulcer, Narrow palpeb... |
ORPHA:443811 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Limb tremor, Chore... |
OMIM:608643 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Cholelithiasis, Pallor, Skin ulcer |
ORPHA:231222 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Dystonia, Choreoathetosis, Webbed neck, Failure to thrive... |
ORPHA:209905 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Myhre Syndrome |
|
Blepharophimosis, Cryptorchidism, Fine hair, Narrow palpebral fissure, Microtia, Low-set ears, Ca... |
OMIM:139210 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Cryptorchidism, Low-set ears, Umbilical hernia, Hypert... |
OMIM:135900 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Abnorm... |
ORPHA:1782 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278750 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Skin ulcer, Upslanted palpebral fissure, Pallor, Hypopituitarism |
ORPHA:231214 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Scapular winging, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic... |
ORPHA:73223 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration, Dystonia |
OMIM:616267 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nail dystrophy, Aplasia cutis congenita, Pterygium, Enamel hypoplasia, Ectropion |
ORPHA:79403 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Hypoton... |
OMIM:610505 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Short nail, Large earlobe, Long eyelashes, Palpebral thickening, Downslanted palpebral fissures |
ORPHA:1675 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Preauricular pit, Craniosynostosis, Cryptorchidism, Dystonia, Neonatal hypotonia |
ORPHA:457193 |
Huntington Disease-Like 1 |
|
Generalized hypotonia, Weight loss |
ORPHA:157941 |
Machado-Joseph Disease |
|
Rigidity, Spasticity, Distal amyotrophy, Dystonia |
OMIM:109150 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278740 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Eosinophilia, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule |
ORPHA:183 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Absent fingernail, Sparse hair, Focal... |
OMIM:305600 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Cellulitis |
ORPHA:486 |
Friedreich Ataxia |
|
Hand muscle atrophy, Diabetes mellitus, Dystonia, Spasticity, Impaired visually enhanced vestibul... |
ORPHA:95 |
Cadds |
|
Elevated hepatic transaminase, Cholangitis, Cholestasis, Dystonia |
ORPHA:369942 |
Microscopic Polyangiitis |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:727 |
Metachromatic Leukodystrophy |
|
Hypotonia, Spastic tetraplegia, Gallbladder dysfunction, Cholecystitis, Generalized hypotonia, Dy... |
OMIM:250100 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Rigidity, Hand tremor, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:289560 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries |
ORPHA:137675 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Sensorineural hearing impairment, Penetrating foot ulcers, Ptosis |
ORPHA:99956 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d... |
ORPHA:652 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Skin ulcer |
ORPHA:220393 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Limb dystonia, Prog... |
ORPHA:53351 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Prolonged neonatal jaundice, Dystonia |
OMIM:618868 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Titubation, Infantile muscular hypotonia, Pr... |
ORPHA:225147 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypotonia, Choreo... |
OMIM:610978 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Conjunctivitis, Dermal a... |
OMIM:278730 |
Idiopathic Camptocormia |
|
Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl... |
ORPHA:1320 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Corticobasal Syndrome |
|
Tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Limb dystonia |
ORPHA:454887 |
Chronic Granulomatous Disease |
|
Macule, Hypermelanotic macule, Skin ulcer |
ORPHA:379 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentration, Upper limb po... |
OMIM:612953 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Abnormal location of the eyebrow, Widow's peak, Dermoid cyst, C... |
ORPHA:522077 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Rigidity, Head titubation, Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618877 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypotonia, Weight loss |
OMIM:143880 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Pleural effusion, Atrial septal dilatation,... |
ORPHA:1677 |
Autoimmune Polyendocrinopathy Type 3 |
|
Anterior pituitary dysgenesis, Alopecia, Autoimmune hypoparathyroidism, Keratoconjunctivitis sicca |
ORPHA:227982 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmat... |
ORPHA:199 |
Perry Syndrome |
|
Tremor, Weight loss |
ORPHA:178509 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... |
OMIM:229600 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Tremor, Hypertonia, Action tremor, Dystonia |
OMIM:619738 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Alopecia, Anterior pituitary dysgenesis |
ORPHA:227990 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Narrow palpebral fissure, Sparse eyebrow, Hearing impairment |
OMIM:619869 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Femoral... |
ORPHA:2658 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Rigidity, Resting tremor, Postural tremor, Dystonia |
OMIM:619911 |
Neuroblastoma, Susceptibility To, 1 |
|
Skin nodule, Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Behcet Syndrome |
|
Erythema, Patchy alopecia |
OMIM:109650 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormone stimulation ... |
ORPHA:506358 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Sweet Syndrome |
|
Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Panniculitis, Skin vesicle, Erythematous ... |
ORPHA:3243 |
Hereditary Spherocytosis |
|
Cholelithiasis, Pallor, Skin ulcer |
ORPHA:822 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Tremor, Obesity, Neonatal hypotonia |
OMIM:619680 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Knee flexion contracture, Dystonia, Lymphopenia, Intention tremor |
OMIM:619708 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Spastic tetraplegia, Spastic diplegia, Congenital fibrosis of extraocular muscles, D... |
ORPHA:300570 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia |
ORPHA:276241 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Small for gestational age, Cryptorchidism, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, ... |
OMIM:620024 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Axial hypotonia, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia, Spasticity, Failure to thrive |
OMIM:300352 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Hypotonia, Increased mean corpuscular volume, Generalized hypotonia, Dystonia |
OMIM:277410 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Hypertonia, Decreased body weight, Hepatic steatosis, Intention tremor, Overweight, Ob... |
OMIM:619475 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Hyperkeratosis, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Bloom Syndrome |
|
Sparse eyelashes, Adipose tissue loss, Paronychia, Patchy alopecia, Cafe-au-lait spot |
ORPHA:125 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decerebrate rigidity, Generalized hypotonia, Dystonia, Cholecystitis, Spasticity, Intention tremor |
ORPHA:309263 |
Metachromatic Leukodystrophy |
|
Dystonia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia, Decere... |
ORPHA:512 |
Non-Functioning Paraganglioma |
|
Tremor, Weight loss |
ORPHA:94080 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Epicanthus, Abnormal dental enamel m... |
ORPHA:818 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Tremor, Spasticity, Dystonia, Intention tremor |
OMIM:614381 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Trichiasis, Skin ulcer, Atypical scarring of skin, Keratoconjunctivitis sicca, Conj... |
ORPHA:95455 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss |
ORPHA:103910 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Dystonia, Rigidity, Spastic paraparesis |
OMIM:300894 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Posteriorly rotated ears, Congenital diaphragmatic hernia, Lower eyelid c... |
OMIM:154400 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Hepatic failure, Ragged-red muscle fibers, Hypertonia, Dystonia, Spasticity, Failur... |
ORPHA:255210 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Obesity, Weight loss, Increased intramy... |
ORPHA:79102 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Tendon xanthomatosis, Osteoporosis, Distal amyotrophy, Prolonged neon... |
ORPHA:909 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278720 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Tremor, We... |
OMIM:164310 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive |
OMIM:616339 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... |
OMIM:245600 |
Posttransplant Acute Limbic Encephalitis |
|
Dystonia |
ORPHA:163921 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia |
ORPHA:276244 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Hypotonia, Hypertonia, Failure to thrive |
ORPHA:649 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple... |
ORPHA:581 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity, Testicular ... |
OMIM:300322 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Hypoplasia of the musculature, Fle... |
ORPHA:2020 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fingers, Sparse ha... |
OMIM:601803 |
Roberts Syndrome |
|
Progressive flexion contractures, External ear malformation, Cryptorchidism, Knee flexion contrac... |
ORPHA:3103 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener... |
OMIM:272750 |
Granulomatosis With Polyangiitis |
|
Conjunctivitis, Skin ulcer |
OMIM:608710 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Generalized dystonia, Spastic tetraparesis, Dystonia, Failure to thrive, Anemia |
OMIM:620358 |
Pmm2-Cdg |
|
Osteopenia, Elevated hepatic transaminase, Multiple joint contractures, Axial hypotonia, Lipodyst... |
ORPHA:79318 |
Fabry Disease |
|
Subcutaneous nodule, Reduced bone mineral density, Hyperkeratosis, Left ventricular hypertrophy, ... |
ORPHA:324 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Cholecystitis, Decerebrate rigidity, Generalized hypotonia, Spasticity |
ORPHA:309256 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Dystonia, Cogwheel rigidity, Intention tremor |
OMIM:619725 |
Manganese Poisoning |
|
Dystonia, Hypertonia, Postural tremor, Cogwheel rigidity |
ORPHA:306682 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Amoebiasis Due To Free-Living Amoebae |
|
Conjunctival hyperemia, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:68 |
Spinocerebellar Ataxia 21 |
|
Dystonia, Postural tremor, Cogwheel rigidity, Intention tremor |
OMIM:607454 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Facial hypotonia, Neonatal hypoglycemia, Large for gestational age, Sparse eyebrow, Hypotonia, Sl... |
ORPHA:457359 |
Pyomyositis |
|
Myositis, Leukocytosis, Subcutaneous nodule, Weight loss, Testicular teratoma |
ORPHA:764 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Thin eyebrow, Dystonia, Failure t... |
ORPHA:2131 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Elevated circulating creatine ki... |
ORPHA:94093 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Palpebral edema, Posteriorly rotated ears, Hiatus hernia, Protruding ear, Long eyelash... |
OMIM:614756 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Hiatus hernia, Cryptorchidism, Hypotonia, Reduced bone mineral density, Nail dysplasia, Sparse ha... |
OMIM:616682 |
Fraser Syndrome 1 |
|
Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cryptorchidism, Cupped ear, Extensio... |
OMIM:219000 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Highly arched eyebrow, Cryptorchidism, Hypotonia, Dystonia, Failure to thrive |
OMIM:620083 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Enlarged pituitary gland, Osteopenia, Elevated circulating growth hormone... |
ORPHA:91347 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Malakoplakia |
|
Orchitis, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:556 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, At... |
ORPHA:79408 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
Legius Syndrome |
|
Acute monocytic leukemia, Hypotonia, Ovarian neoplasm, Multiple lipomas, Xanthelasma, Dystonia, M... |
ORPHA:137605 |
Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Immunoglobulin A Vasculitis |
|
Macule, Orchitis, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
Gm2 Gangliosidosis, Ab Variant |
|
Infantile axial hypotonia, Progressive spastic quadriplegia, Exaggerated startle response, Dystonia |
ORPHA:309246 |
6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Infantile muscular hypoton... |
ORPHA:75857 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Wiskott-Aldrich Syndrome |
|
Skin ulcer, Hypoplasia of the thymus, Conjunctivitis, Blepharitis, Petechiae, Purpura |
ORPHA:906 |
Osteosarcoma |
|
Osteolysis, Weight loss |
ORPHA:668 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Tremor by anat... |
ORPHA:99750 |
Gerstmann-Straussler Disease |
|
Tremor, Rigidity, Weight loss, Spasticity, Lower limb muscle weakness |
OMIM:137440 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia |
ORPHA:469 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Rigidity, Weight loss, Dystonia, Hypomimic face |
ORPHA:411602 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Long eyelashes... |
OMIM:136140 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity |
ORPHA:102 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... |
ORPHA:90796 |
Malignant Atrophic Papulosis |
|
Peritonitis, Dermal atrophy, Papule, Weight loss |
ORPHA:679 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Left ventricular hypertroph... |
ORPHA:365 |
Arboleda-Tham Syndrome |
|
Axial hypotonia, Highly arched eyebrow, Craniosynostosis, Bilateral cryptorchidism, Hypotonia, Up... |
OMIM:616268 |
Liposarcoma |
|
Subcutaneous nodule, Weight loss |
ORPHA:69078 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity |
ORPHA:98933 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Leber Optic Atrophy |
|
Myopathy, Postural tremor, Dystonia |
OMIM:535000 |
Episodic Ataxia, Type 2 |
|
Dystonia |
OMIM:108500 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss, D... |
ORPHA:420741 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Dystonia |
OMIM:617669 |
8Q24.3 Microdeletion Syndrome |
|
Skin tags, Ectopic posterior pituitary, Epicanthus, Posteriorly rotated ears, Inguinal hernia, Hi... |
ORPHA:508488 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasi... |
ORPHA:97297 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Exaggerated startle response, Severe muscular hypotonia, Dystonia |
ORPHA:438216 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Dystonia |
ORPHA:683 |
Kindler Syndrome |
|
Ridged nail, Symblepharon, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy |
OMIM:173650 |
Adult-Onset Dystonia-Parkinsonism |
|
Tremor, Rigidity, Focal dystonia, Abnormal circulating creatine kinase concentration, Dystonia, S... |
ORPHA:199351 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Panniculitis, Skin ulcer, Purpura |
OMIM:615688 |
Rat-Bite Fever |
|
Parotitis, Lymphadenitis, Tendonitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
Roberts-Sc Phocomelia Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Ankle flexion contracture, Cryptorchidism, E... |
OMIM:268300 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Ptosis, Posteriorly rotated ears, Inguinal hernia, Cupped ear, Cutis... |
OMIM:619472 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Rigidity, Cogwheel rigidity, Tremor by anatomical site |
ORPHA:97349 |
Spinocerebellar Ataxia Type 6 |
|
Blepharospasm, Intention tremor, Dystonia |
ORPHA:98758 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Axial hypotonia, Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Hypotonia, Failure ... |
OMIM:300952 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spasticity, Dystonia |
OMIM:611390 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Axial hypotonia, Limb hypertonia |
OMIM:617020 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity |
ORPHA:227510 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... |
ORPHA:100078 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Generalized dystonia |
ORPHA:79107 |
Steinert Myotonic Dystrophy |
|
Alopecia, Decreased response to growth hormone stimulation test, Bilateral ptosis, Early balding,... |
ORPHA:273 |
Behçet Disease |
|
Myositis, Orchitis, Splenomegaly, Subcutaneous nodule, Lymphadenopathy, Weight loss, Pancreatitis... |
ORPHA:117 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Weight loss, Glycosuria, Hypophosphatemic rickets |
ORPHA:3337 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Retroperitoneal fibrosis, Osteolysis, Weight loss, Xanthelasma, A... |
ORPHA:35687 |
Nocardiosis |
|
Liver abscess, Lymphadenitis, Peritonitis, Subcutaneous nodule, Weight loss, Cellulitis |
ORPHA:31204 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Axial hypotonia, Dystonia |
ORPHA:500144 |
Ramon Syndrome |
|
Hyperkeratosis, Decreased body weight, Hypertrichosis |
OMIM:266270 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Acanthocytosis, Tremor, Rigidity, Blepharospasm, Choreoathetosis, Myopathy... |
OMIM:234200 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Highly arched eyebrow, Frontal balding, Synophrys, Sensorineural hearing impairment, ... |
OMIM:612474 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... |
ORPHA:48435 |
Parkinsonian-Pyramidal Syndrome |
|
Rigidity, Dystonia, Intention tremor, Spasticity, Hypomimic face |
ORPHA:171695 |
Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Hand tremor, Thyroid hyperplasia |
ORPHA:99819 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:276621 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Cryptorchidism, Hypopigmented skin patches, Weight lo... |
ORPHA:84 |
Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
Parkes Weber Syndrome |
|
Scaling skin, Erythematous plaque, Capillary malformation, Skin ulcer |
ORPHA:90307 |
Split Cord Malformation |
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Tufted hairs, Penetrating foot ulcers, Skin dimple, Lipoma, Hypertrichosis |
ORPHA:573278 |
African Trypanosomiasis |
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Erythematous macule, Alopecia, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Lymphadenopathy, Cho... |
ORPHA:3385 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Frontal balding, Neonatal hypoglycemia, Testicular adrenal rest tumor, Weight loss, Failure to th... |
ORPHA:90794 |
Kcnq2-Related Epileptic Encephalopathy |
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Hypotonia, Dystonia |
ORPHA:439218 |
Young-Onset Parkinson Disease |
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Tremor, Spasticity, Rigidity, Dystonia |
ORPHA:2828 |
Neurooculorenal Syndrome |
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Cryptorchidism, Ectopic posterior pituitary, Highly arched eyebrow, Recurrent hypoglycemia |
OMIM:620305 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration... |
ORPHA:49041 |
Primary Sjögren Syndrome |
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Skin ulcer, Keratoconjunctivitis sicca, Dry skin, Lichenoid skin lesion, Parotitis, Purpura |
ORPHA:289390 |
Caribbean Parkinsonism |
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Rigidity, EMG: myopathic abnormalities, Action tremor, Dystonia |
ORPHA:97355 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Abnormal pinna morphology, Hearing impa... |
ORPHA:3472 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Limb dystonia, Hypotonia, Dystonia, Infantile axial hypotonia, Failure to thrive, Lower limb musc... |
OMIM:616973 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Small for gestational age, Hypoglycemia, Craniosynostosis, Cryptorchidism, Polycystic ovaries, Ov... |
OMIM:201750 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
Early Infantile Epileptic Encephalopathy |
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Tremor, Choreoathetosis, Absent thumbnail, Dystonia, Umbilical hernia, Spasticity, Failure to thr... |
ORPHA:1934 |
Spinocerebellar Ataxia Type 8 |
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Spastic dysarthria, Spasticity, Rigidity, Dystonia |
ORPHA:98760 |
Dystonia-Aphonia Syndrome |
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Oromandibular dystonia, Macroglossia, Generalized dystonia |
ORPHA:412217 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Ankle flexion contracture, Craniosynostosis, Tremor, Sparse ant... |
ORPHA:821 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
Blau Syndrome |
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Flexion contracture of toe, Camptodactyly of finger, Skin ulcer, Intermittent generalized erythem... |
OMIM:186580 |
Blau Syndrome |
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Camptodactyly of finger, Erythema, Skin ulcer, Abnormal salivary gland morphology, Dry skin, Papule |
ORPHA:90340 |
Inflammatory Bowel Disease 11 |
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Weight loss |
OMIM:191390 |
Rett Syndrome, Congenital Variant |
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Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:613454 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Granulomatosis With Polyangiitis |
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Elevated circulating C-reactive protein concentration, Skin ulcer, Weight loss, Granulomatosis, P... |
ORPHA:900 |
Ataxia With Vitamin E Deficiency |
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Xanthelasma, Tendon xanthomatosis, Dystonia |
OMIM:277460 |
Cutis Marmorata Telangiectatica Congenita |
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Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Purpura |
ORPHA:1556 |
Pyruvate Dehydrogenase E2 Deficiency |
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Paroxysmal dystonia, Hypertonia, Frog-leg posture, Arm dystonia |
ORPHA:79244 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Acral ulceration |
OMIM:608654 |
Parkinson Disease, Late-Onset |
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Tremor, Resting tremor, Rigidity, Dystonia |
OMIM:168600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
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Acral ulceration |
OMIM:256840 |
Abetalipoproteinemia |
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Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Weight loss |
ORPHA:79127 |
Hereditary Pheochromocytoma-Paraganglioma |
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Tremor, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:29072 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Exaggerated startle response, Cryptorchidism, Abnormality of the anterior pituitary, ... |
ORPHA:438213 |
Plague |
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Localized skin lesion, Skin ulcer, Conjunctival hyperemia, Dry skin, Hearing impairment |
ORPHA:707 |
Cap Polyposis |
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Weight loss |
ORPHA:160148 |
Mercury Poisoning |
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Tremor, Dystonia |
ORPHA:330021 |
Leukocyte Adhesion Deficiency, Type I |
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Skin ulcer |
OMIM:116920 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Hypothyroidism, O... |
ORPHA:904 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
Yao Syndrome |
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Weight loss |
OMIM:617321 |
Pulmonary Alveolar Microlithiasis |
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Hepatomegaly, Weight loss, Stippled calcification in carpal bones, Increased circulating surfacta... |
ORPHA:60025 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Epicanthus, Absent nipple, Sparse eyelashes, Redundant neck skin, Sparse eyebr... |
OMIM:216340 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Progressive spastic quadriplegia, Progressive spastic paraparesis, Generalized dystonia, Progress... |
ORPHA:329308 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatrixoma, Sensorineural hearing impairmen... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatrixoma, Sensorineural hearing impairmen... |
ORPHA:353277 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Rigidity, Resting tremor, Spasticity, Limb dystonia |
OMIM:616840 |
Alzheimer Disease 3 |
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Spastic tetraparesis, Dystonia |
OMIM:607822 |
Semilobar Holoprosencephaly |
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Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant... |
ORPHA:93924 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Hypertonia, Spasticity, Intention tremor |
OMIM:610217 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Parkinson Disease 1, Autosomal Dominant |
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Rigidity, Resting tremor, Dystonia |
OMIM:168601 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Lower limb... |
ORPHA:171629 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
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Dystonia |
OMIM:617903 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Oculogyric crisis, Rigidity, Neoplasm of the thymus, Testicular teratoma, Opist... |
ORPHA:217253 |
Fatal Familial Insomnia |
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Weight loss |
OMIM:600072 |
Parkinson Disease 20, Early-Onset |
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Tremor, Rigidity, Leg muscle stiffness, Dystonia |
OMIM:615530 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Weight loss |
ORPHA:35710 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia |
ORPHA:1848 |
Autosomal Recessive Cutis Laxa Type 1 |
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Wide anterior fontanel, Inguinal hernia, Hernia, Dystonia |
ORPHA:90349 |
Renal Nutcracker Syndrome |
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Anemia, Weight loss |
ORPHA:71273 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Axial hypotonia, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hypertonia |
ORPHA:1578 |
Beta-Ureidopropionase Deficiency |
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Neonatal hypotonia, Hypotonia, Dystonia |
OMIM:613161 |
Leukocyte Adhesion Deficiency |
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Nail dystrophy, Pyoderma gangrenosum, Conjunctivitis, Nasolacrimal sac granuloma |
ORPHA:2968 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Increased ... |
ORPHA:91500 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Paroxysmal dystonia |
ORPHA:98784 |
Kufor-Rakeb Syndrome |
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Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Leg muscle stiffness, Lingual dystonia, H... |
ORPHA:306674 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Baller-Gerold Syndrome |
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Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Erythema, Dermal atrophy, Low-set... |
OMIM:218600 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Dystonia |
ORPHA:79233 |
Glossopharyngeal Neuralgia |
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Weight loss |
ORPHA:221098 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Limb dystonia, Hemolytic anemia, Elevated circulating creatine kinase concentration, Dystonia, Sp... |
OMIM:175780 |
Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
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Hypotonia, Dystonia |
OMIM:618222 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Weight loss |
ORPHA:1018 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Supranuclear Palsy, Progressive, 1 |
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Axial dystonia, Tremor, Rigidity, Retrocollis, Limb dystonia |
OMIM:601104 |
Kanzaki Disease |
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Hyperkeratosis |
OMIM:609242 |
Holoprosencephaly 1 |
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Hypoglycemia, Generalized hypotonia |
OMIM:236100 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Few cafe-au-lait spots, Umbilical hernia, Hypotonia, Dystonia |
OMIM:620330 |
Supranuclear Palsy, Progressive, 2 |
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Axial dystonia, Rigidity, Postural tremor, Retrocollis |
OMIM:609454 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
Carney-Stratakis Syndrome |
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Weight loss |
ORPHA:97286 |
Goodpasture Syndrome |
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Anemia, Weight loss |
OMIM:233450 |