| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Gait ataxia, Aggressive behavior |
OMIM:618808 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Autoimmune Hypoparathyroidism |
|
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... |
ORPHA:36913 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphag... |
ORPHA:411515 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Blue irides, Depression, Irri... |
OMIM:261600 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnes... |
ORPHA:428 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment |
OMIM:612462 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Small nail, Abnormal repetitive mannerisms |
OMIM:619470 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... |
OMIM:615516 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Depression, Self-injurious behavior, Attention deficit hyperactivity di... |
ORPHA:79254 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... |
ORPHA:98818 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigment... |
ORPHA:79476 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Frontal upsweep of hair, Ataxia, Aggressive behavior |
OMIM:300983 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... |
ORPHA:33445 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia |
OMIM:300555 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... |
ORPHA:79444 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Confusion, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia... |
ORPHA:79443 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, T... |
OMIM:618362 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I... |
ORPHA:411511 |
| Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Sparse scalp hair, Hypophosphatemia |
ORPHA:2611 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal... |
ORPHA:98794 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli... |
ORPHA:157215 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
| Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... |
OMIM:271980 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Blue irides, Melanocytic nevus |
OMIM:101800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Premature graying of hair, Gait disturbance, Cognitive impairme... |
ORPHA:100 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hyperactivity, Broad-based gait, Aggressive behavior |
ORPHA:457260 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia, Alopecia universalis |
OMIM:277440 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Progressive neurologic deterioration, Inability to walk, Dysphagia |
ORPHA:70472 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation |
ORPHA:300570 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyphagi... |
ORPHA:228402 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Progressive psychomotor deterioration, Gait ataxia, ... |
ORPHA:363400 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia... |
OMIM:209950 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... |
ORPHA:98795 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation |
ORPHA:177910 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... |
OMIM:241530 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Agenesis of corpus callosum, Decreased thalamic volume |
ORPHA:370959 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Silver-gray hair, Multiple lentigines, Spastic gait, Vitiligo |
ORPHA:101003 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology |
ORPHA:2959 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... |
OMIM:617865 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... |
ORPHA:31824 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ... |
OMIM:617302 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... |
ORPHA:43 |
| Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... |
ORPHA:139396 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... |
ORPHA:168491 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Abnormalit... |
OMIM:618156 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Synophrys, Coarse hair,... |
OMIM:252920 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia |
ORPHA:71526 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Low frustration t... |
ORPHA:163681 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Cognitive impairment, Hypo... |
ORPHA:411629 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Hyperactivity, Fair hair, Blue irides |
OMIM:614613 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Leigh Syndrome |
|
Agenesis of corpus callosum, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Onycholysis, Polyphagia |
OMIM:275000 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo... |
ORPHA:3214 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig... |
OMIM:105830 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... |
OMIM:610217 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Synophrys, Coarse hair, Dysphagia, Motor deterioration, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Progressive neurologic deterioration, Oral-pharyngeal dys... |
OMIM:219800 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation |
ORPHA:52503 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait |
OMIM:207800 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
| Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Large cafe-au-lait macules with irregular margins, Difficulty walki... |
ORPHA:249 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
| Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... |
ORPHA:160 |
| Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... |
ORPHA:97214 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Tay-Sachs Disease |
|
Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Pigmentary... |
OMIM:234200 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... |
ORPHA:3322 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia, Thick eyebrow |
OMIM:620047 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
| Pearson Syndrome |
|
Ataxia, Hypomagnesemia, Dysphagia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypophospha... |
ORPHA:699 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Agenesis of corpus callosum, Partial agenesis of the corpus... |
OMIM:610828 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Hypoammonemia, Depression, Fine hair, Self-injurious behavior, H... |
ORPHA:534 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Nail dystrophy, Nail dysplasia, Emotional lability, Self-mutila... |
OMIM:256800 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Cog... |
ORPHA:238468 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Mccune-Albright Syndrome |
|
Large cafe-au-lait macules with irregular margins, Hypophosphatemia |
ORPHA:562 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Raine Syndrome |
|
Highly arched eyebrow, Hypophosphatemia |
OMIM:259775 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:99880 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Sel... |
ORPHA:2388 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:143 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum |
ORPHA:314621 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impulsivity, Polyphagia, Abnormal temper tantrums, Compulsive behaviors... |
ORPHA:398069 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Brittle Cornea Syndrome |
|
Gait disturbance, Abnormality of hair pigmentation |
ORPHA:90354 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac... |
ORPHA:177907 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Abnormality of hair texture, Hypophosphatemia |
ORPHA:667 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:98793 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Polyphagia, Self-injurious behavior, Frontal upsweep of hair, Attention... |
OMIM:176270 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:177901 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premat... |
ORPHA:163746 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
| Koolen-De Vries Syndrome |
|
Overfriendliness, Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:98754 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ... |
ORPHA:84064 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Polyphagia, Abnormal temper tantrums, Skin-picking, Hypopigmentation of... |
ORPHA:398079 |
| Hermansky-Pudlak Syndrome |
|
