| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
| Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
| Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
| Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Lissencephaly 3 |
|
Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermi... |
OMIM:611603 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Inability to walk, Cerebral atrophy, Absent septum pellucidum, Microcephaly, Hypoplasia of the co... |
OMIM:618492 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Difficulty walking, Spast... |
ORPHA:401820 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... |
ORPHA:101029 |
| Foxg1 Syndrome |
|
Decreased body weight, Poor eye contact, Inability to walk, Inappropriate crying, Severe postnata... |
ORPHA:561854 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callo... |
OMIM:604213 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Agenesis of corpus callosum |
ORPHA:85334 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
| Masa Syndrome |
|
Gait disturbance, Agenesis of corpus callosum |
ORPHA:2466 |
| Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum, Unst... |
OMIM:617542 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... |
OMIM:614019 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
| Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum, Postnatal growth retardation |
OMIM:233810 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly, Decreased body weight, Agenesis of corpus callosum |
OMIM:616681 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Failure to thrive, Microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Microlissenceph... |
OMIM:617090 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:619501 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Poor eye contact, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:612948 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... |
ORPHA:1808 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Mental deterioration, Hypoplasia of the corpus c... |
OMIM:604360 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primar... |
ORPHA:300570 |
| Band Heterotopia |
|
Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
| Glycine Encephalopathy |
|
Aggressive behavior, Impulsivity, Agenesis of corpus callosum, Irritability |
OMIM:605899 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
| Bowen Syndrome Of Multiple Malformations |
|
Failure to thrive, Agenesis of corpus callosum |
OMIM:211200 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Failure to thrive, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia ... |
ORPHA:255182 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cognitive impairment, Cavum septum pellucidum, Microcephaly, Cortical... |
ORPHA:300573 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Delayed social development, Simplified gyral patte... |
OMIM:619301 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Delayed social development, Simpl... |
OMIM:619302 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Agenesis of corpus callosum, Dysmetria, Limb ataxia |
OMIM:610245 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
| Gaba-Transaminase Deficiency |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Tall stature |
OMIM:613163 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Aggressive behavior, Agenesis of corpus callosum |
OMIM:619548 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
| Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum |
ORPHA:85179 |
| Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Dysplastic corpus callosum, Poor eye contact, Inability to walk, Micro... |
OMIM:618276 |
| Fish-Eye Disease |
|
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... |
OMIM:618959 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior |
OMIM:618010 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
| Masa Syndrome |
|
Shuffling gait, Microcephaly, Agenesis of corpus callosum |
OMIM:303350 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair |
ORPHA:1008 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia cysts, Choreoathetosis, ... |
OMIM:312170 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Obesity |
ORPHA:85274 |
| Microhydranencephaly |
|
Poor eye contact, Self-mutilation, Microcephaly, Cerebellar hypoplasia, Athetosis, Pachygyria, Hy... |
OMIM:605013 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:166024 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum |
OMIM:617669 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Decreased body weight, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Corticos... |
ORPHA:255138 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Ridged nail, Fine hair, Slow-growing... |
OMIM:129490 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic gait, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
| 3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
| Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpus callosum, Hypopla... |
OMIM:601160 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... |
OMIM:257960 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... |
ORPHA:1818 |
| Imagawa-Matsumoto Syndrome |
|
Tall stature, Overgrowth, Birth length greater than 97th percentile, Polymicrogyria, Agenesis of ... |
OMIM:618786 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dysmetria, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar vermis hypoplasia, Gait a... |
ORPHA:453521 |
| Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:262767 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Parietal cortical atrophy, Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum |
OMIM:618766 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Polyphagia |
OMIM:248100 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Failure to thrive, Caudate atrophy, Choreoathetosis, Agenesis of corpus callosum |
OMIM:618238 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Small for gestational age, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Moynahan Syndrome |
|
Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619466 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Microcephaly, Aggressive behavior, Agenesis of corpus callosum |
OMIM:615286 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thick eyebrow, Sparse hair, Widow's peak |
OMIM:606242 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Synophrys |
OMIM:300803 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Obesity, Truncal obesity |
OMIM:615986 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum, Dand... |
OMIM:225790 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Agenesis of corpus callosum, Dysmetria |
OMIM:250620 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia, Irritab... |
OMIM:607196 |
| Manganese Poisoning |
|
Akinesia, Impairment in personality functioning, Depression, Memory impairment, Gait disturbance,... |
ORPHA:306682 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Failure to thrive, Cerebral atrophy, Microcephaly, Cerebellar hypopla... |
OMIM:600118 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails |
OMIM:164680 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Pseudoprogeria Syndrome |
|
Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ... |
ORPHA:2985 |
| Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair, Failure to thrive, Truncal obesity |
ORPHA:261483 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:616099 |
| Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
| Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Lissenc... |
OMIM:218670 |
| X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:2508 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar... |
OMIM:304100 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
| Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma... |
OMIM:224750 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Galactose Epimerase Deficiency |
|
Cataract, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Hypotrichosis 6 |
|
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes |
OMIM:607903 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity, Red hair |
ORPHA:71526 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II lissencepha... |
OMIM:613153 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding |
OMIM:619692 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Trichodental Dysplasia |
|
Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Polyphagia, Red hair |
OMIM:609734 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes |
ORPHA:2512 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Microcephaly, Abnormal cerebral white matter morphology, Unsteady g... |
OMIM:614947 |
| Hawkinsinuria |
|
Fine hair, Failure to thrive, Sparse hair |
ORPHA:2118 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturbance, Difficult... |
ORPHA:98764 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Craniotelencephalic Dysplasia |
|
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-optic dysplasia, Agene... |
ORPHA:1528 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicr... |
OMIM:614833 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
| Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Alopecia |
OMIM:604931 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Thick eyebrow |
OMIM:309585 |
| Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Sparse lateral eyebrow |
ORPHA:79133 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
| Familial Cold Urticaria |
|
Polydipsia, Hyperhidrosis |
ORPHA:47045 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morp... |
OMIM:618603 |
| Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
| Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Small for gestational age, B... |
ORPHA:79243 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... |
OMIM:614929 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly, Unsteady gait, Ataxia |
OMIM:245349 |
| Hyperostosis Frontalis Interna |
|
Obesity, Hypertrichosis |
OMIM:144800 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia, Hypopigmentation of hair |
ORPHA:177910 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... |
ORPHA:113 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail |
ORPHA:2251 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Absent eyebrow, Anhidrosis, Absent eyelashes, Dystrophic fingernails, Nail dystrophy... |
OMIM:604536 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum, Small for gestational age |
OMIM:610498 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... |
OMIM:602400 |
| Heyn-Sproul-Jackson Syndrome |
|
Decreased body weight, Sparse hair |
OMIM:618724 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Neuronal loss in the cerebral cortex, P... |
ORPHA:168486 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Distichiasis, Sparse hair, Absent lower eyelashes |
OMIM:227260 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Cerebral atrophy, Agenesis of corpus callosum |
OMIM:600329 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Nail dystrophy, Thin nail |
OMIM:618625 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
| Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Cataract, Anemia, Th... |
ORPHA:290 |
| Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
| Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
| Perry Syndrome |
|
Apathy, Akinesia, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, Disinhibition, ... |
OMIM:168605 |
| Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum |
OMIM:617127 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Failure to thrive, Decreased body weight, Small for gestational age, Microcephaly, Partial agenes... |
OMIM:618346 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:616342 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Hypohidrosis, Abnormal fingernail morphology |
ORPHA:1810 |
| Sialidosis Type 2 |
|
Corneal opacity, Ascites, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Hypoplasia of the co... |
OMIM:616756 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Absent facial hair, Sparse facial hair, Obesity, Low posterior hairline |
ORPHA:2183 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes |
OMIM:616901 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... |
ORPHA:1809 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
| Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... |
OMIM:613102 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Hypohidrosis, Trich... |
ORPHA:1660 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Ataxia, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypopla... |
OMIM:616819 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia |
OMIM:617119 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
| Bardet-Biedl Syndrome 17 |
|
Obesity, Polydipsia, Anosmia, Hyposmia |
OMIM:615994 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Hype... |
OMIM:614594 |
| Central Precocious Puberty |
|
Obesity, Increased body weight, Abnormality of secondary sexual hair, Overgrowth |
ORPHA:759 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Mental deterioration, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, A... |
OMIM:618476 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
| Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Microcephaly, Nonprogressive cerebellar ataxia, Cerebellar vermis hypoplasia, Primary microcephal... |
ORPHA:466688 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis |
ORPHA:181 |
| Leptin Deficiency Or Dysfunction |
|
Obesity, Polyphagia, Abnormal eating behavior |
OMIM:614962 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
| Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior, Anxiety, Hypoplasia of the corpus callosum, Obesity |
ORPHA:444002 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... |
OMIM:604804 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow |
OMIM:104100 |
| Hsd10 Disease |
|
Ataxia, Focal white matter lesions, Abnormal social behavior, Microcephaly, Gait disturbance, Cho... |
ORPHA:391417 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... |
ORPHA:89844 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia |
ORPHA:329249 |
| Amish Lethal Microcephaly |
|
Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Agenesis of corpus callosum, Irritability |
ORPHA:99742 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:164180 |
| Spinocerebellar Ataxia 21 |
|
Apathy, Ataxia, Progressive cerebellar ataxia, Impulsivity, Limb ataxia, Akinesia, Mental deterio... |
OMIM:607454 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Microcephaly, Agenesis of corpus callosum |
OMIM:610680 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... |
OMIM:618736 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Basal ganglia calcification, Small for gestational age, Microcephaly, Cerebell... |
OMIM:214150 |
| 6Q25 Microdeletion Syndrome |
|
Failure to thrive, Microcephaly, Agenesis of corpus callosum |
ORPHA:251056 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Slow-growing hair, Hypohidrosis, Sparse eyelashes |
OMIM:618535 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Lissencephaly 6 With Microcephaly |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
OMIM:616212 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Failure to thrive, Ataxia, Inability to walk, Hypoplasia of the corpus callosum, Difficulty walki... |
ORPHA:481152 |
| Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... |
OMIM:603552 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Highly arched eyebrow, Synophrys |
ORPHA:300305 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, A... |
ORPHA:280763 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Mucolipidosis Iv |
|
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Choreoathetosis, Inability to walk, Thin corpus callosum |
OMIM:619653 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Baraitser-Winter Syndrome 2 |
|
Pachygyria, Lissencephaly, Secondary microcephaly, Agenesis of corpus callosum |
OMIM:614583 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Agenesis of corpus callosum |
OMIM:600638 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy |
OMIM:275450 |
| Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Failure to thrive, Microcephaly, Spastic gait |
OMIM:249630 |
| Bazex Syndrome |
|
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Hypohidrosis, Trichoepithelioma |
OMIM:301845 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Long eyelashes |
OMIM:614608 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum |
ORPHA:380 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Hyperhidrosis |
OMIM:613576 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
| Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619989 |
| Craniosynostosis 6 |
|
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Abnormal corpus callosum mo... |
OMIM:616602 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia, Hypopigmentation of hair |
ORPHA:411515 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Scarring alopecia of scalp, Anonychia, Nail dystrophy |
ORPHA:79402 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Apathy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Absent septu... |
ORPHA:96147 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261519 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Sparse hair, Curly hair, Absent eyebrow |
OMIM:615278 |
| Rosselli-Gulienetti Syndrome |
|
Nail dysplasia, Progressive hypotrichosis, Sparse eyebrow, Sparse eyelashes, Hypohidrosis |
OMIM:225000 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:1006 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Microcephaly, Thin corpus callosum |
OMIM:619517 |
| Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Small for gestational age, Trichorrhex... |
OMIM:614602 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Inability to walk, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Agenesis of corp... |
OMIM:616362 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Type II lissencephaly, Agenesis of corpus... |
OMIM:615287 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia, Anosmia, Hypohidrosis |
ORPHA:3157 |
| Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum |
OMIM:607131 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism |
OMIM:184700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Tall stature, Disproportionate tall stature, Aggressive behavior, Emotional lability, Impaired so... |
OMIM:309520 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Microcephaly, Inappropriate behavior, Gait ataxia, Agenesis of corpus c... |
ORPHA:1446 |
| Alpha-Mannosidosis |
|
Corneal opacity, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:61 |
| Radio-Tartaglia Syndrome |
|
Gait imbalance, Ataxia, Impulsivity, Poor eye contact, Microcephaly, Aggressive behavior, Obesity... |
OMIM:619312 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| 4Q21 Microdeletion Syndrome |
|
Cerebellar hypoplasia, Self-injurious behavior, Agenesis of corpus callosum |
ORPHA:238750 |
| Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polydipsia |
OMIM:125800 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia |
OMIM:304800 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... |
ORPHA:86822 |
| Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia |
OMIM:245900 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum |
OMIM:615433 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Coarse hair, Sparse hair |
OMIM:619985 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Partial agenesi... |
ORPHA:500144 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
| Hereditary Late-Onset Parkinson Disease |
|
Apathy, Cerebral cortical atrophy, Impulsivity, Akinesia, Dementia, Depression, Mental deteriorat... |
ORPHA:411602 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly, Progressive mi... |
OMIM:615249 |
| Filippi Syndrome |
|
Hypertrichosis, Decreased body weight, Sparse hair, Frontal hirsutism |
OMIM:272440 |
| Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Aggressive behavior... |
OMIM:619244 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Aggressive behavior, Agenesis of corpus callosum |
OMIM:619320 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Small for gestational age, Sparse axillary hair, Sparse facial ... |
OMIM:608154 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Polyphagia, Anosmia, Hyposmia |
OMIM:617885 |
| Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Microcephaly, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesi... |
OMIM:243310 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:2850 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618142 |
| Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300215 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Progeroid Syndrome, Petty Type |
|
Failure to thrive, Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle hair, Long eyelashe... |
ORPHA:2963 |
| Johnson Neuroectodermal Syndrome |
|
Failure to thrive, Absent eyebrow, Sparse hair, Alopecia, Hypohidrosis, Absent eyelashes, Anosmia |
ORPHA:2316 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
OMIM:620010 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Abnormal hair quantity, Low posterior hairline |
ORPHA:2233 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Cerebellar hypoplasia, Athetosis, Aggressive behavior, Agenesis of corpus ca... |
OMIM:619435 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Absent eyelashes, Abnormality of the nail |
OMIM:607823 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysphagia, Failure to thrive, Sparse hair |
OMIM:620001 |
| Frontonasal Dysplasia 1 |
|
Agenesis of corpus callosum, Pericallosal lipoma |
OMIM:136760 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Mental deteriorat... |
ORPHA:2822 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:521308 |
| East Syndrome |
|
Salt craving, Polydipsia |
ORPHA:199343 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Scheie Syndrome |
|
Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
| Arnold-Chiari Malformation Type Ii |
|
Ataxia, Anxiety, Cortical dysplasia, Polymicrogyria, Partial agenesis of the corpus callosum, Dif... |
ORPHA:1136 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cognitive impairment |
OMIM:613735 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Abdominal obesity, Small for gestational age |
OMIM:300869 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Basal ganglia cysts, Agenesis of corpus callosum |
OMIM:613623 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Gait ataxia, Aggressi... |
OMIM:618109 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyr... |
ORPHA:370959 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Failure to thrive, Hyperhidrosis |
ORPHA:525731 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly |
OMIM:256540 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Tip-toe gait, Partial agenesis of the corpus callosum, Obesity, Spastic gait |
OMIM:617296 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse hair, Abnormal hair pattern, Sparse lower eyelashes, Distichiasis, Highly arched eyebrow, ... |
ORPHA:1807 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... |
OMIM:225060 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia, Thick eyebrow |
ORPHA:171829 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Memory impairment, Obesity, Secondary microcephaly, Periventricular w... |
OMIM:619737 |
| Congenital Short Bowel Syndrome |
|
