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Gene: Rb1 MGI:97874

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

RB transcriptional corepressor 1

Synonyms:

Rb, Rb-1, retinoblastoma 1, pRb

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rb1 (6 diseases)
Human diseases predicted to be associated with Rb1 (2257 diseases)

The table below shows human diseases associated to Rb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Bladder Cancer	Transitional cell carcinoma of the bladder, Bladder neoplasm	OMIM:109800
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Osteosarcoma	Weight loss	ORPHA:668
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Monosomy 13Q14	Cataract, Iris coloboma, Retinoblastoma	ORPHA:1587

The table below shows human diseases predicted to be associated to Rb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Schwannomatosis 2	Schwannoma, Spinal cord tumor	OMIM:615670
Paraganglioma And Gastric Stromal Sarcoma	Paraganglioma, Neoplasm of the gastrointestinal tract	OMIM:606864
Carcinoid Tumors, Intestinal	Intestinal carcinoid	OMIM:114900
Pheochromocytoma/Paraganglioma Syndrome 5	Paraganglioma	OMIM:614165
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Lethal Congenital Contracture Syndrome 3	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata...	OMIM:611369
Spinal Muscular Atrophy, Scapuloperoneal	Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy	OMIM:271220
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom...	OMIM:168000
Miyoshi Myopathy	Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn...	ORPHA:45448
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Chemodectoma, Adrenal ph...	OMIM:605373
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ...	ORPHA:219
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Schwannomatosis 1	Vestibular schwannoma, Spinal cord tumor, Peripheral schwannoma, Meningioma	OMIM:162091
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu...	OMIM:600794
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy...	OMIM:115310
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cataract	ORPHA:73245
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy...	ORPHA:482601
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Cerebellar agenesis	ORPHA:1397
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu...	OMIM:601472
Subependymoma	Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ...	ORPHA:251639
Ependymoma	Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ...	ORPHA:251636
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,...	ORPHA:1332
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am...	OMIM:158600
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy...	OMIM:160980
Lethal Congenital Contracture Syndrome 4	Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture	OMIM:614915
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Prostate Cancer/Brain Cancer Susceptibility	Prostate cancer, Neoplasm of the central nervous system	OMIM:603688
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Spastic Paraplegia 77, Autosomal Recessive	Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness	OMIM:617046
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy	OMIM:614881
Insulinomatosis And Diabetes Mellitus	Insulinoma, Hyperinsulinemic hypoglycemia, Multiple pancreatic beta-cell adenomas, Type II diabet...	OMIM:147630
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy	OMIM:158650
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Renal cell carci...	OMIM:193300
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Adenocarcinoma Of The Esophagus	Barrett esophagus, Obesity, Esophageal carcinoma	ORPHA:99976
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Neuronopathy, Distal Hereditary Motor, X-Linked	Distal amyotrophy, Spinal muscular atrophy	OMIM:300489
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Chemodectoma, Neoplasm, Glomus jugular tumor, Glomus tympanicum paraganglioma	OMIM:601650
Spastic Paraplegia 38, Autosomal Dominant	Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu...	OMIM:612335
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Distal lower limb muscle weakness, Skeletal muscle atrophy	OMIM:615025
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy	OMIM:619099
Pulmonary Blastoma	Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Bladder Cancer	Transitional cell carcinoma of the bladder, Bladder neoplasm	OMIM:109800
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Hand muscle weakness	OMIM:616280
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Cerebellar atrophy	OMIM:617133
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Distal amyotrophy, Calf muscle hypertrophy	OMIM:618135
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower...	OMIM:605820
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic...	OMIM:615631
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Distal amyotrophy, Foot dorsiflexor weakness	OMIM:618036
Myopathy, Distal, 4	Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ...	OMIM:614065
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal lower limb muscle weakness, Interosseus muscle atrophy, Distal amyotrophy, Spinal muscular...	OMIM:607088
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m...	OMIM:617030
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, ...	ORPHA:83469
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast...	ORPHA:99818
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy	OMIM:158500
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Proximal amyotrophy, Distal amyotrophy, Spinal muscular atrophy	OMIM:182980
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma	OMIM:171420
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss	ORPHA:52416
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w...	OMIM:619519
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy	OMIM:208100
Phakomatosis Pigmentokeratotica	Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Cryptorchidism, Nephroblastoma, Hemangi...	ORPHA:2874
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Weight loss, Brain neoplasm, Peripheral primitive neur...	ORPHA:370348
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Increased glucagon level	ORPHA:438274
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy, Choreoathetosis, Paroxysmal dystonia	OMIM:606777
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le...	ORPHA:139411
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss	ORPHA:2023
Rhabdoid Tumor Predisposition Syndrome 1	Choroid plexus carcinoma, Medulloblastoma	OMIM:609322
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Hand muscle atrophy	OMIM:183020
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy	OMIM:612539
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak...	ORPHA:399103
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Adrenocortical adenoma, Increased circul...	ORPHA:97261
Pheochromocytoma	Pheochromocytoma, Neoplasm, Hemangioma	OMIM:171300
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, ...	OMIM:620428
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal pheochromocytoma, Paraganglioma...	ORPHA:276621
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Spinal Muscular Atrophy With Impaired Intellectual Development	Spinal muscular atrophy	OMIM:271109
Neurofibromatosis, Type I	Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma...	OMIM:162200
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Nemaline Myopathy 6	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy	OMIM:609273
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ...	OMIM:600175
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Spinal Muscular Atrophy, Jokela Type	Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:615048
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss, Neuroendocrine neoplasm, Neoplasm of the larynx	ORPHA:100083
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Cranial nerve compression, Arachnoid...	ORPHA:29072
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Spinal Muscular Atrophy, Type Iii	Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu...	OMIM:253400
Syndromic X-Linked Intellectual Disability 7	Obesity, Cryptorchidism	ORPHA:85274
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Succinic Acidemia	Respiratory distress	OMIM:600335
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor...	OMIM:620011
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Distal Hereditary Motor Neuropathy Type 5	Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal lower limb muscle w...	ORPHA:139536
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Spastic Paraplegia 31, Autosomal Dominant	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:610250
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Camptodactyly	OMIM:619751
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Pallor, Elliptocytosis	OMIM:611804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi...	OMIM:610755
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode...	OMIM:605809
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy	ORPHA:357043
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Developmental And Epileptic Encephalopathy 92	Dystonia, Lethargy	OMIM:617829
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig...	OMIM:254210
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl...	OMIM:620068
Alexander Disease Type I	Cachexia, Cerebellar atrophy, Failure to thrive	ORPHA:363717
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb muscle weakness, Spinal muscular atrophy, Triceps weakness, Weakness of the intrinsic ...	OMIM:615575
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre...	ORPHA:145
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy	OMIM:616282
Spinocerebellar Ataxia 48	Cachexia, Cerebellar atrophy	OMIM:618093
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy	ORPHA:401805
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
X-Linked Sideroblastic Anemia	Anemia, Pallor, Splenomegaly	ORPHA:75563
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Autosomal Recessive Spastic Paraplegia Type 62	Skeletal muscle atrophy, Knee flexion contracture	ORPHA:401785
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Mitochondrial Complex I Deficiency, Nuclear Type 3	Dystonia, Lethargy	OMIM:618224
Moynahan Syndrome	Cachexia	ORPHA:2574
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr...	OMIM:604286
Bethlem Myopathy 1A	Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra...	OMIM:158810
Cronkhite-Canada Syndrome	Cataract, Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplas...	ORPHA:2930
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Respiratory distress	OMIM:613642
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy	ORPHA:85162
Tuberous Sclerosis Complex	Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama...	ORPHA:805
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean c...	OMIM:615234
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism	ORPHA:3055
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy...	OMIM:300580
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Galactose Epimerase Deficiency	Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Basal Cell Nevus Syndrome 2	Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma	OMIM:620343
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Lethal Congenital Contracture Syndrome 8	Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogryposis, Flex...	OMIM:616287
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Hamartoma	ORPHA:141152
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Neurofibromatosis Type 1	Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl...	ORPHA:636
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Developmental And Epileptic Encephalopathy 40	Lethargy, Choreoathetosis	OMIM:617065
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Pheochromocytoma, Ganglioneuroma, Medullary thyroi...	OMIM:162300
Dandy-Walker Syndrome	Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe...	OMIM:220200
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Cataract, Occipital encephalocele, Hypoplasia of the pons, Abnor...	ORPHA:370959
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc...	OMIM:613287
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Flexion contracture, Skeletal muscle atrophy	OMIM:611105
Spinal Muscular Atrophy, Ryukyuan Type	Proximal amyotrophy, Spinal muscular atrophy	OMIM:271200
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Failure to thrive, Truncal obesity	ORPHA:261483
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growth retardation, P...	OMIM:266200
Perching Syndrome	Camptodactyly, Joint contracture, Respiratory distress	OMIM:617055
Fetal Parvovirus Syndrome	Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thrombocytopenia, Anemia, Hy...	ORPHA:295
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice	OMIM:618881
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly	OMIM:312500
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness	OMIM:607678
Gemignani Syndrome	Skeletal muscle atrophy, Abnormal testis morphology	ORPHA:2074
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d...	ORPHA:71526
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal liver parenchyma morphology, Dandy-Walker malformation, Abn...	ORPHA:3032
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Proximal amyotrophy, Death in childhood, Spinal muscular...	OMIM:253300
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell adenoma, Inc...	OMIM:131100
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder...	OMIM:254450
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Lethargy, Focal dystonia...	ORPHA:101150
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Nemaline Myopathy 10	Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat...	OMIM:616165
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Diffuse Neonatal Hemangiomatosis	Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Patent ductus a...	ORPHA:2123
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Neuroblastoma, Susceptibility To, 2	Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma	OMIM:613013
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Distal amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Spinal muscular atrophy	OMIM:605726
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Hepatomegaly, Breast carcinoma	ORPHA:86893
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Beta-Thalassemia	Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Dysequilibrium Syndrome	Skeletal muscle atrophy	ORPHA:1766
Medulloblastoma	Medulloblastoma	OMIM:155255
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615686
Spastic Paraplegia 18B, Autosomal Recessive	Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:611225
Christianson Syndrome	Cachexia, Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy	ORPHA:85278
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ...	OMIM:617751
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Patent ductus arteriosus, Neonatal death	OMIM:610498
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness	OMIM:302801
Thymic Neuroendocrine Tumor	Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Increased circulati...	ORPHA:97289
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Short statur...	OMIM:614831
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Truncal obesity, Anterior pituitary hypopl...	OMIM:618160
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Posterior embryotoxon, Hydrocephalus, Partial absence of cerebellar ver...	OMIM:220220
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity	ORPHA:171706
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Partial agenesis of the corpus callosum	OMIM:615771
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Pontocerebellar Hypoplasia, Type 1C	Joint contracture, Skeletal muscle atrophy, Death in childhood, Spinal muscular atrophy	OMIM:616081
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice, Edema	OMIM:603552
Papular Xanthoma	Histiocytosis	ORPHA:158008
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis	OMIM:601820
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu...	OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl...	ORPHA:254864
Dermatitis, Atopic	Keratoconus, Cataract, Dry skin, Pallor, Facial erythema, Conjunctivitis	OMIM:603165
Spinocerebellar Ataxia, Autosomal Recessive 2	Short stature, Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar hypoplasia	OMIM:213200
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,...	ORPHA:101028
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyelashes, Distal amyotrophy, Absent eyebrow	OMIM:182815
Hb Bart'S Hydrops Fetalis	Anemia, Pallor, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventriculomegaly, Neurodegeneration, Lymphopenia, Leukopenia, Postnatal growth retardation, Splen...	OMIM:620210
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity	OMIM:620270
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Short Chain Acyl-Coa Dehydrogenase Deficiency	Dystonia, Lethargy	ORPHA:26792
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Dysgenesis of the cerebellar vermis, Failure to thrive, Decrease...	ORPHA:67048
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Lethargy, Choreoathetosis	ORPHA:71277
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:608807
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal mesentery m...	ORPHA:93941
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Distal amyotrophy	OMIM:605589
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Myosclerosis, Autosomal Recessive	Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture	OMIM:255600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Cryptorchidism, Prenatal death, Neonatal death, Camptodactyly, Arthrogry...	OMIM:618393
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo...	ORPHA:98870
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:253550
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature	OMIM:617069
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy	OMIM:611283
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Elevated circulating catecholamine level, Cerebellar hemangioblasto...	ORPHA:892
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba...	ORPHA:846
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
17Q11 Microdeletion Syndrome	Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif...	ORPHA:97685
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration	ORPHA:77260
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:610951
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:488594
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated fourth ventricle, Agenesis of corpus call...	ORPHA:171680
Leishmaniasis	Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Throm...	ORPHA:507
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:613204
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso...	ORPHA:99889
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Abnormal cornea morphology, Postnatal growth retardation, Dilated f...	ORPHA:357058
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Acute infantile spinal muscular atrophy, Respiratory distress, Hypertricho...	OMIM:271225
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Cerebellar vermis atrophy, Dilated fourth ventricle	OMIM:619054
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Sev...	ORPHA:3078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior cha...	OMIM:613154
Idiopathic Achalasia	Weight loss	ORPHA:930
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor	OMIM:613561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Bardet-Biedl Syndrome 4	Obesity, Cryptorchidism	OMIM:615982
Nemaline Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline...	OMIM:256030
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy	ORPHA:91130
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno...	OMIM:613313
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Laryngomalacia	Respiratory distress	OMIM:150280
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity	ORPHA:71529
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity	OMIM:613670
Galactose Mutarotase Deficiency	Cataract, Failure to thrive, Decreased liver function, Cholestasis, Hepatomegaly	ORPHA:570422
Renpenning Syndrome	Cataract, Cachexia, Iris coloboma, Decreased testicular size	ORPHA:3242
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spastic Paraplegia 62, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615681
Ollier Disease	Anemia, Multiple enchondromatosis, Abnormal cartilage morphology	ORPHA:296
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Galactosemia Ii	Prolonged neonatal jaundice, Cataract	OMIM:230200
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Middle Ear Neuroendocrine Tumor	Facial palsy, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:100084
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ...	ORPHA:2585
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Hypertrichosis	OMIM:618244
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Immunodeficiency 95	Respiratory distress	OMIM:619773
Dihydrolipoamide Dehydrogenase Deficiency	Dystonia, Lethargy	OMIM:246900
Anaplastic Thyroid Carcinoma	Goiter, Neoplasm of the skeletal system, Weight loss, Nodular goiter, Anaplastic thyroid carcinom...	ORPHA:142
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture	OMIM:620323
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy...	ORPHA:1170
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Failure to thrive in infancy, Hepatic steatosis, Cerebellar hypoplasia, Pancreatitis, E...	OMIM:618805
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
Nemaline Myopathy 5C, Autosomal Dominant	Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,...	OMIM:620389
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Cerebellar hypoplasia, Megaloblastic ane...	OMIM:613839
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Diamond-Blackfan Anemia 9	Anemia, Webbed neck	OMIM:613308
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim...	ORPHA:90103
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal ...	ORPHA:523
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity	ORPHA:329249
Morm Syndrome	Truncal obesity	ORPHA:75858
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Leptin Deficiency Or Dysfunction	Decreased testicular size, Obesity	OMIM:614962
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Pallor, Splenomegaly, Increased red cell hem...	OMIM:194380
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Obesity, Small for gestational age	OMIM:300148
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
11Q22.2Q22.3 Microdeletion Syndrome	Hemangioma, Obesity	ORPHA:444002
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal...	OMIM:614302
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Dehydration	ORPHA:28
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Intestinal Dysmotility Syndrome	Cataract, Weight loss, Failure to thrive	OMIM:620045
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul...	OMIM:158900
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy, Death in infancy	OMIM:616974
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ...	ORPHA:231222
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory distress, Myopathy, Weakness of facial musculature, Spinal m...	ORPHA:254875
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615683
Nephroblastoma	Aniridia, Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Neoplasm of the lung	ORPHA:654
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Atrial septal defect, Thrombocytopenia, Neutropenia, Patent ductus arteriosus...	OMIM:614857
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tremor	ORPHA:276608
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Optic disc pallor, Pallor	OMIM:612989
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertrophy, Macroglo...	OMIM:616827
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis	OMIM:617087
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should...	ORPHA:98856
Microcephaly, Seizures, And Developmental Delay	Skeletal muscle atrophy	OMIM:613402
Pyruvate Dehydrogenase E1-Alpha Deficiency	Dystonia, Lethargy, Choreoathetosis, Tremor	OMIM:312170
Immunodeficiency 61	Obesity	OMIM:300310
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,...	ORPHA:572798
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Muscular dystrophy, Proximal amyotrophy, Calf muscle hypertrophy, Scapular winging	OMIM:601287
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Splenomegaly, Ascites	ORPHA:100025
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism, Obesity	OMIM:300238
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Neoplasm, Weight loss, Ovarian neoplasm, Neoplasm of the breast	ORPHA:2221
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Lethargy, Choreoathetosis, Tremor	OMIM:233910
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Decreased response to growth hormone stimulation test	OMIM:245590
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Mast Cell Sarcoma	Sarcoma, Weight loss	ORPHA:66661
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop...	ORPHA:206559
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,...	ORPHA:596
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Nephronophthisis 15	Obesity	OMIM:614845
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cachexia	ORPHA:97229
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma, Tall stature, Thyroid carcinoma, In...	ORPHA:109
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite...	OMIM:617021
Flynn-Aird Syndrome	Cataract, Cachexia	ORPHA:2047
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism	OMIM:603233
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Bardet-Biedl Syndrome 16	Obesity	OMIM:615993
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Severe Canavan Disease	Lethargy	ORPHA:314911
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor	OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts	ORPHA:1133
Spastic Paraplegia 45, Autosomal Recessive	Flexion contracture, Skeletal muscle atrophy	OMIM:613162
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity, Streak ovary, Cryptorchidism, Nephroblastoma, Gonadoblastoma	OMIM:194072
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov...	ORPHA:298
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly	ORPHA:796
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Abnormal testis morphology	ORPHA:2233
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal amyotrophy, Upper limb muscle weakness	OMIM:607791
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Respiratory distress, Death...	OMIM:300219
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Ane...	ORPHA:300298
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Cerebellar atrophy	OMIM:618186
Fanconi Anemia, Complementation Group I	Chiari malformation, Decreased response to growth hormone stimulation test, Intrauterine growth r...	OMIM:609053
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst	OMIM:615960
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Occipital encephalocele, Dilated fourth ventricle, Cere...	OMIM:614175
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, In...	OMIM:301310
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly, Pallor	ORPHA:56425
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Familial Colorectal Cancer Type X	Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca...	ORPHA:440437
Trisomy 5P	Obesity	ORPHA:1742
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Wolman Disease	Hepatomegaly, Hepatic failure, Cachexia, Splenomegaly	ORPHA:75233
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f...	OMIM:616738
Mehmo Syndrome	Obesity, Cryptorchidism	ORPHA:85282
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Lethargy, Head titubation	OMIM:250620
Borjeson-Forssman-Lehmann Syndrome	Obesity, Cryptorchidism	OMIM:301900
Ataxia-Telangiectasia-Like Disorder	Short stature, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy	ORPHA:251347
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Lethargy, Choreoathetosis	ORPHA:289916
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skeletal muscle atrophy, Progressive flexion contractures, Death in inf...	ORPHA:2028
Neuropathy, Congenital Hypomyelinating, 2	Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy	OMIM:618184
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn...	OMIM:160565
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Esophageal neoplasm	ORPHA:2198
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi...	OMIM:255160
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Cerebellar atrophy, Intrauterine growth retardation, Neonatal death, Kyphosis	OMIM:618237
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy	OMIM:205250
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Abdominal obesity, Increased circulating gonadotropin ...	OMIM:300869
Riboflavin Deficiency	Lethargy	OMIM:615026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture	OMIM:613723
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Ascites, Cholestasis, Oligohydramnios, Neonatal death, Hepatomegaly, Pe...	OMIM:608104
Carcinoid Syndrome	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Intestinal carcin...	ORPHA:100093
Fanconi Anemia, Complementation Group N	Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma, Small for gestational age	OMIM:610832
Rigid Spine Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop...	ORPHA:97244
Chronic Hiccup	Weight loss	ORPHA:396
Dohle Bodies And Leukemia	Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Acute myeloid leukemia, An...	OMIM:223350
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ...	OMIM:253600
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Gastrointestinal carcinoma, Cachexia, Hamartomatous polyposis	OMIM:175500
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Joubert Syndrome 6	Hepatic fibrosis, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dilated fourth ...	OMIM:610688
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anem...	ORPHA:27
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy, Neona...	OMIM:253310
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Monosomy 9Q22.3	Tall stature, Large for gestational age, Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovaria...	ORPHA:77301
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Renal neoplasm, Sarcoma, Neoplasm of the central nervous system	ORPHA:69077
Morbid Obesity And Spermatogenic Failure	Obesity	OMIM:615703
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Ventriculomegaly, Splenomegaly, Hepatomegaly, Anterior beaking of lumbar vertebrae...	OMIM:230650
Sialidosis Type 2	Umbilical hernia, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Kyphosis, Pedal edema	ORPHA:87876
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa...	OMIM:610099
19Q13.11 Microdeletion Syndrome	Cataract, Microcornea, Failure to thrive, Supernumerary nipple, Cryptorchidism, Cachexia	ORPHA:217346
Wilson-Turner Syndrome	Cryptorchidism, Truncal obesity	ORPHA:3459
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Lynch Syndrome	Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop...	ORPHA:144
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Cerebellar hemisphere hypoplasia, Cerebellar atrophy, Small for gestational age	OMIM:615095
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Dystonia 31	Abnormal posturing	OMIM:619565
Isaacs Syndrome	Weight loss	ORPHA:84142
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea, Right ventricular hypertrophy	ORPHA:70589
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Myopathy, Exertional dyspnea, Dyspnea, Pelvic girdle muscle weak...	OMIM:615156
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cerebellar hypoplasia, Cataract	OMIM:620425
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Lethargy, Choreoathetosis	ORPHA:79312
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Temple Syndrome	Decreased response to growth hormone stimulation test, Obesity, Small for gestational age, Crypto...	ORPHA:254516
Mitochondrial Complex I Deficiency, Nuclear Type 5	Dystonia, Lethargy	OMIM:618226
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent...	OMIM:212065
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Follicular Lymphoma	Weight loss, Lymphoma	ORPHA:545
Central Diabetes Insipidus	Lethargy, Depression	ORPHA:178029
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Congenital contracture, Death in infancy	OMIM:615042
Arima Syndrome	Hepatic fibrosis, Optic atrophy, Cerebellar vermis hypoplasia, Growth delay, Dilated fourth ventr...	OMIM:243910
Erythrokeratodermia Variabilis	Cataract, Neoplasm of the skin, Weight loss, Corneal opacity, Abnormal testis morphology	ORPHA:317
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Krabbe Disease	Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Diffuse cerebral atrophy, ...	OMIM:245200
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus...	ORPHA:399096
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight	OMIM:614651
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism	OMIM:614963
Hirschsprung Disease	Failure to thrive in infancy, Neoplasm of the thyroid gland, Intestinal polyposis, Weight loss	ORPHA:388
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Medulloblastoma	Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor, Cerebellar medulloblastoma, Ne...	ORPHA:616
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Malaria	Respiratory distress	ORPHA:673
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood, Cryptorchidism	OMIM:615597
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia...	ORPHA:3226
Classic Galactosemia	Depression, Postural tremor, Action tremor, Lethargy, Dystonia	ORPHA:79239
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Temple Syndrome	Decreased testicular size, Obesity, Cryptorchidism, Truncal obesity, Overweight, Small for gestat...	OMIM:616222
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Familial Multiple Lipomatosis	Overgrowth, Medulloblastoma, Odontogenic keratocysts of the jaw	ORPHA:199276
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Cirrhosis, ...	OMIM:604250
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia	OMIM:606069
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Peritoneal Cystic Mesothelioma	Neoplasm, Weight loss	ORPHA:168816
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:137200
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Congenital Myopathy 9A	Obesity, Cryptorchidism	OMIM:618822
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Pseudopseudohypoparathyroidism	Obesity, Pseudohypoparathyroidism	OMIM:612463
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Neonatal death	OMIM:618232
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Obesity, Cryptorchidism	OMIM:601794
Tetrasomy 12P	Cachexia	ORPHA:884
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cerebellar hypoplasia, Cataract, Cryptorchidism, Hepatomegaly	OMIM:613730
Spinocerebellar Ataxia, Autosomal Recessive 33	Cerebellar hypoplasia, Dilated fourth ventricle	OMIM:620208
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Death in childhood	OMIM:618251
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Type 1 muscle fiber predominance, Skeletal muscle atrophy	OMIM:618276
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy	OMIM:205200
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Full Schwannomatosis	Cataract, Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neopla...	ORPHA:93921
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism, Abdominal obesity	ORPHA:631
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism	OMIM:615633
Pyruvate Dehydrogenase Deficiency	Dystonia, Lethargy, Choreoathetosis, Tremor	ORPHA:765
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa...	ORPHA:331206
Solitary Fibrous Tumor	Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop...	ORPHA:2126
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Spinocerebellar Ataxia 1	Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p...	OMIM:164400
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Mu-Heavy Chain Disease	Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly	ORPHA:100024
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy	ORPHA:868
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Wagr Syndrome	Obesity, Cryptorchidism	ORPHA:893
Srd5A3-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Micro...	ORPHA:324737
Pleural Mesothelioma	Respiratory distress, Dyspnea	ORPHA:50251
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Cryptorchidism	ORPHA:363741
Juvenile Huntington Disease	Cerebellar vermis atrophy, Weight loss, Cerebellar atrophy	ORPHA:248111
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Bardet-Biedl Syndrome 2	Obesity	OMIM:615981
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea	ORPHA:247257
Diaminopentanuria	Neurodegeneration	OMIM:222350
Lethal Congenital Contracture Syndrome 7	Distal arthrogryposis, Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture	OMIM:616286
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Limb tremor, Torticollis, Exaggerated ...	OMIM:608643
Chung-Jansen Syndrome	Obesity, Cryptorchidism	OMIM:617991
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Progressive distal muscular atrophy, Facial palsy, Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:159950
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy	ORPHA:565899
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity	ORPHA:480907
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle...	ORPHA:79644
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Summitt Syndrome	Tall stature, Obesity	ORPHA:3210
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Obesity, Decreased growth hormone response...	OMIM:609734
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Obesity, Cryptorchidism	OMIM:610628
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Global brain atrophy, Hy...	OMIM:615574
Laurence-Moon Syndrome	Obesity, Cryptorchidism	ORPHA:2377
Malignant Peritoneal Mesothelioma	Neoplasm, Weight loss	ORPHA:168811
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy	OMIM:618228
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Cachexia, Squamous cell carcinoma of the skin	ORPHA:220295
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Focal Segmental Glomerulosclerosis 1	Anemia, Pleural effusion, Edema, Ascites	OMIM:603278
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Obesity, Eunuchoid habitus	ORPHA:2234
Silver-Russell Syndrome	Failure to thrive in infancy, Decreased testicular size, Obesity, Cryptorchidism, Cachexia	ORPHA:813
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Hypothyroidism, Central, With Testicular Enlargement	Overweight, Reduced circulating prolactin concentration	OMIM:300888
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Majeed Syndrome	Failure to thrive, Splenomegaly, Cachexia, Weight loss, Hepatomegaly	ORPHA:77297
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Kyphosis, Hyperlordosis	OMIM:303350
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy	OMIM:612577
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Digital Extensor Muscle Aplasia-Polyneuropathy	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2926
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Abnormal cerebellum morphology, Amyotrophic lateral sclerosis	ORPHA:300605
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries	ORPHA:3085
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Roussy-Lévy Syndrome	Intrinsic hand muscle atrophy, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weak...	ORPHA:3115
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l...	ORPHA:98849
Myotonia, Potassium-Aggravated	Apneic episodes in infancy, Skeletal muscle atrophy, Skeletal muscle hypertrophy	OMIM:608390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Chediak-Higashi Syndrome	Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Neurodegeneration, Decreased nerve cond...	OMIM:214500
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Kearns-Sayre Syndrome	Anterior hypopituitarism, Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex...	ORPHA:171433
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness	OMIM:620378
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Limb muscle weakness	OMIM:607458
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Cryptorchidism, Neonatal death, Arthrogryposis multiple...	OMIM:611890
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Failur...	ORPHA:905
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Steinert Myotonic Dystrophy	Neoplasm of the skin, Cholelithiasis, Decreased response to growth hormone stimulation test, Endo...	ORPHA:273
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy	ORPHA:247604
Congenital Heart Block	Intrauterine growth retardation, Pallor, Cyanosis, Patent ductus arteriosus	ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Acute Erythroid Leukemia	Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia	ORPHA:318
Fryns-Smeets-Thiry Syndrome	Cachexia, Disproportionate tall stature	ORPHA:2058
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Kaposi Sarcoma	Neoplasm of the skin, Abnormality of the spleen, Abnormality of the liver, Hemangioma, Weight los...	ORPHA:33276
Irida Syndrome	Pallor	ORPHA:209981
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina...	ORPHA:398124
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Typhoid	Lethargy, Tremor	ORPHA:99745
Clark-Baraitser syndrome	Tall stature, Macroorchidism, Obesity	OMIM:300602
Leukoencephalopathy, Progressive, With Ovarian Failure	Neurodegeneration, Cerebellar atrophy, Lateral ventricle dilatation	OMIM:615889
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Fumarase Deficiency	Optic atrophy, Ventriculomegaly, Conjunctival icterus, Intrahepatic cholestasis, Polycythemia, He...	OMIM:606812
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Leukocytosis, Joint swelling,...	ORPHA:829
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Megalencephaly	Macroorchidism, Truncal obesity	ORPHA:2477
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han...	OMIM:211530
Thyroid Lymphoma	Respiratory distress, Dyspnea, Goiter	ORPHA:97285
Citrullinemia Type I	Lethargy, Torticollis	ORPHA:247525
Classic Hodgkin Lymphoma	Lymphoma, Neoplasm, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:391
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Short stature, Neurodegeneration, Absent pubertal growth spurt, Cerebellar atrophy	ORPHA:438134
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Congenital Enterovirus Infection	Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,...	ORPHA:292
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc...	OMIM:557000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity	ORPHA:177910
Baralle-Macken Syndrome	Obesity	OMIM:619255
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Scoliosis, Kyphosis	ORPHA:101075
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele,...	ORPHA:397715
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ganglioneuroblastoma, Ganglioneuroma, Weight loss, Neuroblastoma	OMIM:256700
Zaki Syndrome	Short stature, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Patent ductus arteriosus	OMIM:619648
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Left ventricular hypertrophy	OMIM:616733
Congenital Central Hypoventilation Syndrome	Neoplasm of the central nervous system, Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma	ORPHA:661
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hemangioma, Obesity, Failure to thrive	OMIM:610543
Cerebrooculofacioskeletal Syndrome 1	Cataract, Ventriculomegaly, Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, C...	OMIM:214150
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem...	OMIM:616858
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy	OMIM:611895
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Hy...	OMIM:620642
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia	ORPHA:276575
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Action tremor, Opisthotonus, Lethargy, Craniofacial dystonia, Dystonia	OMIM:607483
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Blue Rubber Bleb Nevus	Hemangioma, Cerebellar medulloblastoma	OMIM:112200
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Ventriculomegaly, Iris coloboma, Occi...	OMIM:249000
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity	ORPHA:352530
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia, Atrial septal defect	ORPHA:51208
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy	OMIM:619064
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A...	ORPHA:86839
Gorlin Syndrome	Meningioma, Neoplasm, Medulloblastoma, Cryptorchidism, Cardiac fibroma, Ovarian fibroma, Odontoge...	ORPHA:377
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Intrauterine growth retardation, Abnormality of peripheral nerve conduction, Ab...	ORPHA:48431
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal tricuspid valve morphology, Ventricular septal defect, Anemia, Hydrops f...	ORPHA:3405
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276556
48,Xxyy Syndrome	Lymphoma, Tall stature, Decreased testicular size, Obesity, Cryptorchidism	ORPHA:10
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased...	OMIM:310300
Spastic Paraplegia 2, X-Linked	Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:312920
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Scoliosis, Kyphosis	ORPHA:2598
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Machado-Joseph Disease	Dilated fourth ventricle, Cerebellar atrophy, Abnormal autonomic nervous system physiology	OMIM:109150
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Cyanosis, Hepatomegaly, ...	ORPHA:90051
Laurence-Moon Syndrome	Obesity	OMIM:245800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Pituitary Apoplexy	Mydriasis, Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Dec...	ORPHA:95613
Ring Chromosome Y Syndrome	Obesity, Streak ovary, Cryptorchidism, Gonadoblastoma, Unilateral cryptorchidism	ORPHA:261529
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Scoliosis, Kyphosis	OMIM:610743
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Cerebellar atrophy, Failure to thrive, Decreased pineal volume	OMIM:301108
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis	OMIM:618234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276580
Thanatophoric Dysplasia	Platyspondyly, Ventriculomegaly, Intrauterine growth retardation, Increased nuchal translucency, ...	ORPHA:2655
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Acth-Independent Macronodular Adrenal Hyperplasia	Macronodular adrenal hyperplasia, Neoplasm, Adrenal hyperplasia, Truncal obesity	OMIM:219080
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Obesity, Cryptorchidism, Myeloid leukemia, Proportionate tall stature	ORPHA:404443
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro...	OMIM:608931
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Skeletal muscle atrophy	ORPHA:101081
Cap Polyposis	Weight loss, Colorectal polyposis	ORPHA:160148
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Colon cancer, Pancre...	ORPHA:1333
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Macronodular adrenal hyperplasia, Abdominal obesity	OMIM:615954
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Small for gestational age, Cryptorchidism, Truncal obesity	ORPHA:96184
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Weight loss, Paraganglioma	ORPHA:97286
Machado-Joseph Disease Type 3	Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Degeneration of anter...	ORPHA:276244
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity	ORPHA:3077
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Respiratory distress, Death in infancy, Myopathy,...	OMIM:604377
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Sandifer Syndrome	Anemia, Abnormal posturing	ORPHA:71272
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis,...	OMIM:618835
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Diamond-Blackfan Anemia 3	Webbed neck, Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, P...	OMIM:610629
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Anemia	OMIM:618839
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar hypoplasia, ...	OMIM:619306
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:183050
Isolated Atp Synthase Deficiency	Dystonia, Lethargy	ORPHA:254913
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Skeletal muscle atrophy, Increased muscle glycogen content	ORPHA:371
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101097
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
14Q11.2 Microduplication Syndrome	Obesity	ORPHA:261229
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Scoliosis, Kyphosis	ORPHA:101078
Rafiq Syndrome	Obesity, Truncal obesity	OMIM:614202
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly...	ORPHA:457077
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Lymphoma, Neoplasm, B-cell lymphoma, Cachexia, T-cell lymphoma, Rhabdomyo...	ORPHA:647
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Cerebellar atrophy, Olivopontocerebellar atrophy	OMIM:183090
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Myopathy	OMIM:615511
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return	OMIM:618313
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Bardet-Biedl Syndrome 19	Obesity	OMIM:615996
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Cryptorchidism, Truncal obesity, Increased body mass index	OMIM:300957
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy	ORPHA:324575
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis	OMIM:618512
Amyotrophic Lateral Sclerosis	Cachexia, Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Machado-Joseph Disease Type 1	Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy	ORPHA:276238
Machado-Joseph Disease Type 2	Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy	ORPHA:276241
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity	ORPHA:2928
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Cadds	Cataract, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cholestasi...	ORPHA:369942
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Astigmatism, Dilated third ventricle, Lateral ventricle dilatation, Optic nerve dysplasia	OMIM:617296
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Ovarian carcinoma, Cardiac fi...	OMIM:109400
Trisomy 18	Cataract, Microcornea, Chiari malformation, Cryptorchidism, Cachexia, Iris coloboma	ORPHA:3380
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Cataract, Lateral ventricle dilatation, Dilated fourth ventricle, S...	OMIM:619869
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Skeletal muscle hypertrophy	ORPHA:101082
Fried Syndrome	Skeletal muscle atrophy	ORPHA:85335
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Hypoplasia of the pons, Postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypopl...	OMIM:300749
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Pyruvate Dehydrogenase E3 Deficiency	Lethargy	ORPHA:2394
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Obesity, Cryptorchidism, Pseudohypoparathyroidism	ORPHA:464288
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy	OMIM:614808
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Conjunctival icterus, Hepatic fibrosis, Biliary cirrhos...	ORPHA:53035
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Non-Functioning Pituitary Adenoma	Secondary growth hormone deficiency, Hypopituitarism, Decreased response to growth hormone stimul...	ORPHA:91349
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Multiple Mitochondrial Dysfunctions Syndrome 1	Opisthotonus, Lethargy, Neonatal death	OMIM:605711
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ...	OMIM:615418
Myopathy, Centronuclear, 2	Intrauterine growth retardation, Oligohydramnios, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis	OMIM:255200
Myotonic Dystrophy 1	Cholelithiasis, Frontal balding, Respiratory distress, Facial diplegia, Testicular atrophy	OMIM:160900
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy	ORPHA:37612
Non-Functioning Paraganglioma	Pallor, Cranial nerve compression	ORPHA:94080
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Aicardi Syndrome	Cerebellar vermis hypoplasia, Cataract, Dilated third ventricle, Chiari malformation, Lateral ven...	OMIM:304050
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Joubert Syndrome 10	Obesity, Decreased body weight	OMIM:300804
Isovaleric Acidemia	Lethargy	OMIM:243500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Cryptorchidism	ORPHA:171839
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Intrinsic hand muscle atrophy, Distal amyotrophy, Limb muscle weakness, Skeletal muscle atrophy	OMIM:614895
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin...	ORPHA:98915
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Ventriculomegaly, Optic atrophy, Megalocornea, Type II lissencephaly, Cerebellar dyspla...	OMIM:253280
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Stt3B-Cdg	Respiratory distress, Cryptorchidism	ORPHA:370924
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplas...	OMIM:618291
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Dravet Syndrome	Pallor, Cyanotic episode	ORPHA:33069
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolac...	ORPHA:913
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Edema	OMIM:226300
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Skeletal muscle atrophy, Upper limb muscle weakness, Lower lim...	OMIM:615284
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Respiratory distress, Knee flexion contracture, Ca...	OMIM:608799
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Obesity	OMIM:620439
Ck Syndrome	Polymicrogyria, Hyperlordosis, Pachygyria, Scoliosis, Kyphosis	OMIM:300831
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Kyphosis, Oligohydramnios, Splenomegaly, Macrocytic anemia, Ch...	OMIM:615512
Scrub Typhus	Lethargy, Tremor	ORPHA:83317
Osteogenesis Imperfecta, Type Xxiii	Truncal obesity	OMIM:620639
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture	ORPHA:98896
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Propionic Acidemia	Dystonia, Lethargy	OMIM:606054
Norrie Disease	Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, C...	ORPHA:649
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Hypoplasia of the ovary, Disproportionate tall...	OMIM:615300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia	OMIM:618398
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia	OMIM:612840
Spastic Paraplegia 11, Autosomal Recessive	Obesity	OMIM:604360
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea	ORPHA:60032
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Sheehan Syndrome	Secondary growth hormone deficiency, Panhypopituitarism, Dry skin, Pallor, Gonadotropin deficienc...	ORPHA:91355
Thanatophoric Dysplasia Type 2	Platyspondyly, Ventriculomegaly, Kyphosis, Increased nuchal translucency, Encephalocele, Abnormal...	ORPHA:93274
X-Linked Intellectual Disability, Stevenson Type	Tall stature, Obesity	ORPHA:85325
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity	ORPHA:254531
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity	OMIM:615986
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Truncal obesity	OMIM:618363
Juvenile Polyposis Of Infancy	Subcutaneous lipoma, Hemangioblastoma, Hemangioma, Cachexia, Adenomatous colonic polyposis, Hamar...	ORPHA:79076
Rett Syndrome	Cachexia	OMIM:312750
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Focal Myositis	Weight loss	ORPHA:48918
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Pseudo-Torch Syndrome 2	Lethargy, Patent ductus arteriosus	OMIM:617397
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt...	ORPHA:71275
Huntington Disease-Like 2	Weight loss	OMIM:606438
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Pallor, Splenomegaly	ORPHA:3386
Xfe Progeroid Syndrome	Cachexia, Corneal scarring, Elevated circulating hepatic transaminase concentration, Failure to t...	OMIM:610965
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Lethargy	OMIM:250940
Winchester Syndrome	Kyphosis	OMIM:277950
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Obesity, Neoplasm of the liver, Overweight, Hepatocellular carcinoma	ORPHA:69663
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Opisthotonus, Lethargy	OMIM:210200
15Q24 Microdeletion Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism...	ORPHA:94065
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Thymoma	Neoplasm of head and neck, Neoplasm of the thyroid gland, Neoplasm, Non-Hodgkin lymphoma, Weight ...	ORPHA:99867
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity	ORPHA:1035
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Mucopolysaccharidosis, Type Ii	Severe short stature, Umbilical hernia, Neurodegeneration, Hepatosplenomegaly, Splenomegaly, Papi...	OMIM:309900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	OMIM:238970
Histiocytoid Cardiomyopathy	Optic atrophy, Megalocornea, Cerebellar malformation, Congenital aphakia, Pallor, Cyanosis, Hydro...	ORPHA:137675
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tall stature, Obesity	OMIM:618089
Schaaf-Yang Syndrome	Failure to thrive in infancy, Obesity, Cryptorchidism	OMIM:615547
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Microtriplication 11Q24.1	Obesity	ORPHA:289522
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hypoplasia, Obesity, Hypopl...	ORPHA:2235
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin, Dilated third ventricle, Lateral ventricle dilatation, Simplified gyral pattern	OMIM:619244
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Petechiae, Neutropenia	ORPHA:79477
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Tropical Pancreatitis	Pancreatic adenocarcinoma, Pancreatic calcification, Weight loss, Abnormal pancreatic duct morpho...	ORPHA:103918
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Mody	Pancreatic hypoplasia, Obesity, Large for gestational age, Hepatocellular adenoma, Overweight	ORPHA:552
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Pontocerebellar Hypoplasia, Type 16	Apnea, Skeletal muscle atrophy, Limb hypertonia	OMIM:619527
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Prolonged G2 phase of cell cycle, An...	OMIM:227646
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Acrodysostosis 2 With Or Without Hormone Resistance	Obesity, Cryptorchidism	OMIM:614613
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy	OMIM:617892
Fanconi Anemia, Complementation Group E	Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic pallor, Neutrop...	OMIM:600901
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity	ORPHA:464282
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Cerebellar hemisph...	ORPHA:456312
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Sparse eyebrow, Congenital diaphragmatic hernia, Low posterior hairline	OMIM:606164
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy	ORPHA:927
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking ...	OMIM:230500
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Joint contracture	OMIM:615704
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Ascites, Splenomegaly, Hepatomegaly, Short neck, Pericardial effusion, Hydrop...	OMIM:608776
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Respiratory distress, Myopathy, Abnormal muscle glycogen content, Flexio...	ORPHA:367
Diaphanospondylodysostosis	Unossified sacrum, Polymicrogyria, Intrauterine growth retardation, Oligohydramnios, Increased nu...	OMIM:608022
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Cornelia De Lange Syndrome 5	Decreased testicular size, Cryptorchidism, Truncal obesity	OMIM:300882
Graves Disease	Weight loss, Goiter	OMIM:275000
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Thick hair	OMIM:618239
Carnitine Deficiency, Systemic Primary	Lethargy	OMIM:212140
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Combined Oxidative Phosphorylation Deficiency 54	Obesity	OMIM:619737
13Q12.3 Microdeletion Syndrome	Obesity, Cryptorchidism, Failure to thrive	ORPHA:412035
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:616907
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:42642
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Ventriculomegaly, Kyphosis, Cerebellar atrophy, Scoliosis, Patent ductus arteriosus	OMIM:619797
Whipple Disease	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:3452
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy	ORPHA:330050
Narcolepsy Type 1	Obesity	ORPHA:2073
Urban-Rogers-Meyer Syndrome	Obesity, Cryptorchidism	ORPHA:3409
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy	ORPHA:2089
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Macrocephaly/Autism Syndrome	Overgrowth, Obesity, Hydrocele testis, Large for gestational age	OMIM:605309
Cockayne Syndrome	Lentiglobus, Cataract, Band keratopathy, Cerebellar dentate nucleus calcification, Cerebellar atr...	ORPHA:191
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Microsporidiosis	Keratitis, Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Biliary tr...	ORPHA:2552
Joubert Syndrome 37	Decreased testicular size, Obesity, Cryptorchidism	OMIM:619185
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc...	ORPHA:1359
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:617672
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis	ORPHA:99014
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Autosomal Dominant Spastic Paraplegia Type 6	Skeletal muscle atrophy	ORPHA:100988
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Kyphosis	OMIM:618658
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr...	OMIM:616959
Carpenter Syndrome	Obesity, Cryptorchidism	ORPHA:65759
Fanconi Anemia, Complementation Group A	Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic pallor, Neutrop...	OMIM:227650
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age, Goiter	OMIM:274300
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Neuroendocrine neoplasm, Hepatic cysts, ...	ORPHA:100085
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Goiter	OMIM:274240
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Obesity Due To Congenital Leptin Deficiency	Pituitary hypothyroidism, Decreased testicular size, Obesity, Hypoplasia of the ovary	ORPHA:66628
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Apnea, Hypoventilation, Facial palsy, Arthrogryposis multiplex congenita	OMIM:617143
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Kyphosis	ORPHA:319199
Kennedy Disease	Testicular atrophy, Skeletal muscle atrophy	ORPHA:481
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Goiter	ORPHA:226313
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy	ORPHA:156
Shox-Related Short Stature	Obesity	ORPHA:314795
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy	ORPHA:1188
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Tachypnea	ORPHA:79242
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Dystonia, Lethargy	OMIM:277410
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Skeletal muscle atrophy	ORPHA:269
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Stillbirth, Neonatal death	OMIM:614922
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Tremor	ORPHA:263455
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Fanconi Anemia, Complementation Group C	Pancytopenia, Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Anemia, Reticulo...	OMIM:227645
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ...	ORPHA:20
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Cerebellar atrophy	ORPHA:85317
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Xeroderma Pigmentosum, Complementation Group B	Cataract, Cerebellar atrophy, Cutaneous melanoma, Squamous cell carcinoma of the skin, Neoplasm, ...	OMIM:610651
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic fingernails, Skeletal muscle atrophy, Dystrophic toenail	ORPHA:970
Avian Influenza	Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage	ORPHA:454836
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Obesity Due To Leptin Receptor Gene Deficiency	Pituitary hypothyroidism, Decreased testicular size, Obesity, Hypoplasia of the ovary	ORPHA:179494
Congenital Myopathy 19	Congenital contracture, Facial hypotonia, Skeletal muscle atrophy, Cryptorchidism	OMIM:618578
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Cerebellar Ataxia, Cayman Type	Skeletal muscle atrophy, Hypomimic face	OMIM:601238
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Nonimmune hydrops fetalis	OMIM:618838
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Respiratory distress, Decreased testicular size, Faci...	OMIM:157900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Macronodular adrenal hyperplasia, Increas...	ORPHA:189427
Fructose-1,6-Bisphosphatase Deficiency	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steato...	ORPHA:348
Amyotrophic Lateral Sclerosis 8	Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy	OMIM:608627
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo...	ORPHA:201
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Medulloblastoma, Nephroblastoma, Severe failure to thrive	ORPHA:97297
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy	OMIM:619272
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy	OMIM:237300
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Ogden Syndrome	Lethargy, Torticollis	ORPHA:276432
Cataract 47	Cataract, Microcornea	OMIM:612018
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc...	ORPHA:100026
Waldenström Macroglobulinemia	Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura	ORPHA:33226
Incontinentia Pigmenti	Erythema, Cataract, Optic atrophy, Keratitis, Leukocytosis, Pallor, Eosinophilia	OMIM:308300
Alpha-Mannosidosis	Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis	ORPHA:61
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop...	OMIM:615926
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Exertio...	ORPHA:368
Glossopharyngeal Neuralgia	Chiari type I malformation, Schwannoma, Neoplasm, Weight loss	ORPHA:221098
Congenital Disorder Of Glycosylation, Type Iibb	Skeletal muscle atrophy	OMIM:620546
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor	ORPHA:329971
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan	OMIM:620166
Lethal Kniest-Like Dysplasia	Abnormal cartilage morphology, Atrial septal defect, Polyhydramnios, Abnormal cartilage matrix, E...	ORPHA:2347
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Pituitary Adenoma 4, Acth-Secreting	Obesity, Pituitary adenoma, Abdominal obesity	OMIM:219090
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in...	ORPHA:2635
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Anterior lenticonus, Uterine neoplasm, Keratitis, Failure to thrive, Vaginal neoplasm, ...	ORPHA:1018
Perry Syndrome	Weight loss	ORPHA:178509
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Skeletal muscle atrophy, Cryptorchidism	ORPHA:457205
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir...	OMIM:246450
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Hypoventilation	ORPHA:2942
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea, Skeletal muscle atrophy	OMIM:616896
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Bardet-Biedl Syndrome 6	Obesity	OMIM:605231
Luscan-Lumish Syndrome	Overgrowth, Obesity, Polycystic ovaries	OMIM:616831
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Adrenocortical adenoma, Increased circul...	ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 26	Intrauterine growth retardation, Scoliosis, Kyphosis, Umbilical hernia	OMIM:615834
Mosaic Trisomy 9	Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Short neck, Spina bifida, Hem...	ORPHA:99776
Premature Aging Syndrome, Okamoto Type	Cataract, Neoplasm, Osteosarcoma	OMIM:601811
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity	OMIM:619056
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Optic atrophy, Cutaneous melanoma, Pancreat...	ORPHA:71505
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Decreased testicular size, Cryptorchidism, Abdominal obesity	OMIM:300354
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea	ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Patent ductus arteriosus	OMIM:607143
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata...	OMIM:620371
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Wagro Syndrome	Decreased testicular size, Obesity, Multiple exostoses, Nephroblastoma	OMIM:612469
Hall-Riggs Syndrome	Platyspondyly, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Obesity	OMIM:300055
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Tremor	OMIM:201100
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Biliary tr...	ORPHA:100086
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Ventriculomegaly, Cerebral atrophy, Neurodegeneration, Pancytopenia	OMIM:618321
Schwartz-Jampel Syndrome	Cataract, Microcornea, Odontogenic neoplasm, Ectopia lentis, Decreased testicular size, Decreased...	ORPHA:800
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy	ORPHA:2013
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:277400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Lissencephaly, Elevated circulating hepatic tran...	OMIM:208085
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Death in childhood, Death in infancy, Neonatal death	OMIM:245400
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Neuronal loss ...	OMIM:616239
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Truncal obesity, Polycystic ovaries	ORPHA:284180
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Tall stature, Obesity	OMIM:618430
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Cerebellar atrophy, Facial palsy, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Disproportionate tall stature, Abdominal obesity	OMIM:301039
Subaortic Stenosis-Short Stature Syndrome	Obesity	ORPHA:3191
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio...	OMIM:256600
Cowden Syndrome 1	Cataract, Thyroid adenoma, Dysplastic gangliocytoma of the cerebellum, Subcutaneous lipoma, Menin...	OMIM:158350
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Tay-Sachs Disease	Pallor	OMIM:272800
Maple Syrup Urine Disease, Type Ia	Lethargy	OMIM:248600
Mucopolysaccharidosis, Type Iva	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hepatomegaly, Lumbar kyph...	OMIM:253000
Congenital Myopathy 22B, Severe Fetal	Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexion contracture, Respirato...	OMIM:620369
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Autoinflammatory-Pancytopenia Syndrome	Hepatosplenomegaly, Pancytopenia, Granuloma, Hemophagocytosis	OMIM:619858
Congenital Tufting Enteropathy	Cholestatic liver disease, Cataract, Failure to thrive, Punctate keratitis, Weight loss, Corneal ...	ORPHA:92050
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Proprotein Convertase 1/3 Deficiency	Obesity	OMIM:600955
Hypomelanosis Of Ito	Gray matter heterotopia, Scoliosis, Kyphosis	OMIM:300337
Bdv Syndrome	Obesity, Cryptorchidism	OMIM:619326
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy	OMIM:105300
Alg1-Cdg	Scoliosis, Kyphosis, Decreased liver function, Cerebellar atrophy	ORPHA:79327
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy	OMIM:616684
Pseudohypoparathyroidism, Type Ic	Obesity, Pseudohypoparathyroidism	OMIM:612462
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Cataract, Abnormal pons morphology, Buphthalmos, Cerebellar cyst	ORPHA:370997
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Neurofibroma, Bilateral vestibular schwannoma, Peripher...	OMIM:101000
Senior-Loken Syndrome 9	Obesity	OMIM:616629
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Alfadhel Syndrome	Highly arched eyebrow, Nasal flaring	OMIM:620655
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Hurler Syndrome	Umbilical hernia, Neurodegeneration, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Corneal opa...	OMIM:607014
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Neonatal death	OMIM:245650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Flexion contracture	ORPHA:544503
Sea-Blue Histiocytosis	Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Glioma, Medulloblastoma, Lymphoma	OMIM:251260
Chromosome 2Q37 Deletion Syndrome	Obesity	OMIM:600430
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity	OMIM:615980
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Citrullinemia Type Ii	Lethargy, Mania, Tremor	ORPHA:247585
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
4Q21 Microdeletion Syndrome	Ventriculomegaly, Intrauterine growth retardation, Cerebellar hypoplasia, Short neck, Scoliosis, ...	ORPHA:238750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Ventriculomegaly, Neurodegeneration, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:618476
Adrenocortical Carcinoma	Lung adenocarcinoma, Adrenocortical carcinoma, Increased body weight, Adrenocorticotropic hormone...	ORPHA:1501
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr...	ORPHA:3260
Mucopolysaccharidosis-Plus Syndrome	Coarse hair, Respiratory distress, Long eyelashes, Death in childhood, Low anterior hairline, Low...	OMIM:617303
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Ventriculomegaly, Sea-blue histiocytosis, Splenomegaly, Patent ductus arteriosus	OMIM:230600
Lopes-Maciel-Rodan Syndrome	Cerebellar vermis atrophy, Scoliosis, Kyphosis, Cerebellar atrophy	OMIM:617435
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy	OMIM:105400
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea	ORPHA:1302
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Abnormal pericardium morphology, Leukocy...	ORPHA:67
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy	OMIM:500001
Proteus Syndrome	Rib exostoses, Exostosis of the external auditory canal, Cachexia, Visceral angiomatosis, Neoplas...	ORPHA:744
Methylcobalamin Deficiency Type Cble	Lethargy	ORPHA:2169
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma, Increased circulating pr...	ORPHA:97282
Mucopolysaccharidosis, Type Vii	Severe short stature, Umbilical hernia, Neurodegeneration, Postnatal growth retardation, Splenome...	OMIM:253220
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Dilated third ventricle, Cholelithiasis, Lateral ventricle dilatation, Developmental...	ORPHA:464738
Distal 16P11.2 Microdeletion Syndrome	Obesity	ORPHA:261222
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis	ORPHA:134
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Abnorma...	ORPHA:478029
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Neuroendocrine Tumor Of The Colon	Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100080
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy	OMIM:616437
Pseudohypoparathyroidism, Type Ia	Obesity, Pseudohypoparathyroidism	OMIM:103580
Rodrigues Blindness	Sparse hair, Nasal flaring, Fine hair	OMIM:268320
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Episodic respiratory...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Episodic respiratory...	ORPHA:590
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter	OMIM:615595
Narcolepsy 7	Obesity	OMIM:614250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis, Cerebellar atrophy	OMIM:300861
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Weakness of facial musculature, Exertional dyspnea, Inc...	OMIM:220110
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Meningococcal Meningitis	Lethargy	ORPHA:33475
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive in infancy,...	ORPHA:37042
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101085
X-Linked Agammaglobulinemia	Hepatitis, Failure to thrive, Neoplasm, Weight loss, Conjunctivitis	ORPHA:47
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy	OMIM:614932
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Limb joint contracture, Alopecia, Skeletal muscle atrophy	OMIM:612079
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen...	OMIM:275350
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis	ORPHA:98805
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy	ORPHA:477814
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Facial hirsutism, Flexion contracture, Thick eyebrow	OMIM:619383
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration	OMIM:615643
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy	OMIM:612069
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Cryptorchidism, Joint contracture	OMIM:615419
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Obesity	OMIM:620191
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity	OMIM:615630
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Weakness of facial musculature, Limb muscle weakness, Skeletal muscle atrophy	ORPHA:329336
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Kyphosis, Umbilical hernia	ORPHA:352490
Radio-Tartaglia Syndrome	Hemangioma, Obesity	OMIM:619312
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Dilated third ventricle, Cerebellar atrophy, Cataract	ORPHA:314404
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe...	ORPHA:206569
Trisomy 13	Optic atrophy, Kyphosis, Chiari malformation, Intrauterine growth retardation, Hydrops fetalis, S...	ORPHA:3378
Encephalitis Lethargica	Lethargy, Tremor	ORPHA:83600
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertroph...	OMIM:618733
Atrial Standstill	Muscular dystrophy, Skeletal muscle atrophy, Left ventricular noncompaction, Dyspnea, Flexion con...	ORPHA:1344
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy...	OMIM:255125
Dengue Fever	Lethargy	ORPHA:99828
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Obesity	ORPHA:247768
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:2181
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Decreased body weight	ORPHA:589821
Morgagni-Stewart-Morel Syndrome	Obesity	ORPHA:77296
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy, Patent ductus arteriosus	OMIM:277380
Hemifacial Atrophy, Progressive	Horner syndrome, Kyphosis	OMIM:141300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity	OMIM:620250
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocytopenia, B l...	OMIM:603554
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple	OMIM:615761
Thanatophoric Dysplasia Type 1	Platyspondyly, Ventriculomegaly, Increased nuchal translucency, Patent ductus arteriosus, Abnorma...	ORPHA:1860
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Supernumerary nipple	ORPHA:3224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Supernumerary nipple	ORPHA:2519
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Olivopontocer...	OMIM:615157
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Cerebellar hypoplasia, Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, ...	OMIM:618443
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenome...	OMIM:617591
Chitayat Syndrome	Respiratory distress	OMIM:617180
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Neurodegeneration With Brain Iron Accumulation 5	Neurodegeneration, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Cerebral atr...	OMIM:300894
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Polyhydramnios, Pachygyria, Abnormal cartilage matrix, Lissencephaly	ORPHA:86822
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased testicular size, Truncal obesity	ORPHA:3041
Seckel Syndrome	Cachexia	ORPHA:808
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Increas...	ORPHA:97283
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Ventriculomegaly, Cataract, Dilated fourth ventricle, Brain atrophy...	ORPHA:480880
Laron Syndrome	Truncal obesity	ORPHA:633
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cere...	ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea	ORPHA:36238
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Death in early adulthood, Myopathy, Death in infancy, Flexion contractur...	ORPHA:682
Pelger-Huet Anomaly	Giant platelets, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutr...	OMIM:169400
Mogs-Cdg	Alopecia, Fair hair, Respiratory distress, Long eyelashes, Apnea, Hypoventilation, Hirsutism, Lef...	ORPHA:79330
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Sparse lateral eyebrow, Hypoventilation	ORPHA:314655
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy	OMIM:251000
Sialidosis Type 1	Abnormal form of the vertebral bodies, Decreased nerve conduction velocity, Splenomegaly, Scolios...	ORPHA:812
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Short neck, Polyhydramnios, Facial palsy, Scoliosis, Kyphosis	OMIM:301041
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Tropical Calcific Pancreatitis	Pancreatic calcification, Neoplasm of the pancreas	OMIM:608189
Parathyroid Carcinoma	Parathyroid carcinoma, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog...	ORPHA:143
Methylmalonic Aciduria, Cbla Type	Lethargy, Tremor	OMIM:251100
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Lateral ventricle dilatation, Anterior polar cataract, Chiari type I mal...	OMIM:619575
Ullrich Congenital Muscular Dystrophy	Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
2Q37 Microdeletion Syndrome	Obesity, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Tularemia	Respiratory distress	ORPHA:3392
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Weight loss, Myelodysplasia	ORPHA:71493
Oromandibular Dystonia	Respiratory distress, Torticollis	ORPHA:93958
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Pneumocystosis	Neoplasm, Weight loss	ORPHA:723
Niemann-Pick Disease, Type A	Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Vici Syndrome	Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased pr...	OMIM:242840
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra...	OMIM:258450
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Respiratory d...	OMIM:164310
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Highly arched eyebrow, Skeletal muscle atrophy	OMIM:619759
Septo-Optic Dysplasia Spectrum	Obesity, Cryptorchidism, Anterior pituitary hypoplasia	ORPHA:3157
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Increased mean corpuscular volume, Periventricular heterotopia, Colpocephaly, T...	ORPHA:261250
Sandhoff Disease, Juvenile Form	Limb joint contracture, Skeletal muscle atrophy	ORPHA:309162
Craniofaciofrontodigital Syndrome	Hypertrichosis, Respiratory distress, Low anterior hairline, Thick hair, Dyspnea, Macroglossia, S...	ORPHA:363705
Aggressive Systemic Mastocytosis	Decreased liver function, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Hematological n...	ORPHA:98850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Truncal obesity	ORPHA:73272
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Kyphosis, Hypoplasia of the pons, Intrauterine growth retardation, ...	OMIM:619909
Momo Syndrome	Tall stature, Obesity, Large for gestational age, Overgrowth	ORPHA:2563
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis, Cerebellar atrophy	OMIM:614409
Acute Monoblastic/Monocytic Leukemia	Weight loss, Acute monocytic leukemia	ORPHA:514
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology	ORPHA:353
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Pallor, Splenomegaly, Hepatomegaly, Hydrocephalus, Anemia	ORPHA:667
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, Neutropenia, Anemia, Pur...	ORPHA:540
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Resting tremor, Tremor, Bipolar affective disorder, Lethargy, Bradykinesia	ORPHA:254892
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven...	ORPHA:3208
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Low anterior hairline	ORPHA:329178
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Ménétrier Disease	Multiple gastric polyps, Stomach cancer, Weight loss	ORPHA:2494
Borjeson-Forssman-Lehmann Syndrome	Decreased testicular size, Cryptorchidism, Truncal obesity	ORPHA:127
Prolactinoma	Secondary growth hormone deficiency, Pallor, Adrenocorticotropic hormone deficiency, Elevated cir...	ORPHA:2965
Cerebral Visual Impairment	Optic atrophy, Central nervous system degeneration, Neurodegeneration, Hydrocephalus, Optic disc ...	ORPHA:447788
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Opisthotonus, Lethargy	OMIM:210210
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy	ORPHA:465508
Bloom Syndrome	Neoplasm of the skin, Small for gestational age, Lymphoma, Malignant genitourinary tract tumor, N...	ORPHA:125
Ataxia-Telangiectasia	Skeletal muscle atrophy, Premature graying of hair, Polycystic ovaries, Abnormal testis morpholog...	ORPHA:100
Weismann-Netter Syndrome	Anemia, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:3344
Typical Nemaline Myopathy	Facial diplegia, Short neck, Hyperlordosis, Polyhydramnios, Facial palsy, Scoliosis, Kyphosis, Sp...	ORPHA:171436
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Failure to thrive, Decreased testicular size, Obesity, Cryptorchidism, Abd...	ORPHA:398079
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy	OMIM:616719
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Skeletal muscle atrophy	ORPHA:31
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal testis morphology,...	ORPHA:54251
19P13.12 Microdeletion Syndrome	Obesity, Cryptorchidism	ORPHA:254346
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
3C Syndrome	Optic atrophy, Ventriculomegaly, Abnormality of neuronal migration, Short neck, Aplasia/Hypoplasi...	ORPHA:7
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Weight lo...	ORPHA:3163
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:300280
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Thin eyebrow, Dyspnea, Absent eyebrow	ORPHA:2707
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Joint contracture	OMIM:617481
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Immunodeficiency 115 With Autoinflammation	Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:620632
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Calcification...	ORPHA:56
Pyomyositis	Testicular teratoma, Weight loss	ORPHA:764
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Neonatal death	OMIM:616482
Pde4D Haploinsufficiency Syndrome	Obesity, Cryptorchidism	ORPHA:439822
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy	ORPHA:2840
Severe Congenital Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno...	ORPHA:171430
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Intrauterine growth retardation, Abnormality of the gallbladder, H...	ORPHA:2075
Familial Calcium Pyrophosphate Deposition	Calcification of cartilage, Joint swelling	ORPHA:1416
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Increased nuchal translucency, Kyphosis	ORPHA:77300
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity	ORPHA:819
Gm1 Gangliosidosis	Platyspondyly, Optic atrophy, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Splenome...	ORPHA:354
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy	ORPHA:98757
48,Xxxy Syndrome	Decreased testicular size, Obesity, Cryptorchidism, Tall stature	ORPHA:96263
Meningioma	Secondary growth hormone deficiency, Neoplasm of the skin, Neurofibroma, Increased circulating pr...	ORPHA:2495
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Polymicrogyria, Thoracic scoliosis, Hydrocephalus, Pachygyria, Kyphosis	OMIM:603387
Familial Gestational Hyperthyroidism	Weight loss, Thyroid hyperplasia, Goiter	ORPHA:99819
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Lethargy, Exaggerated startle response	OMIM:620423
Emanuel Syndrome	Ventriculomegaly, Kyphosis, Intrauterine growth retardation, Oligohydramnios, Hydrocephalus, Dand...	OMIM:609029
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Abnormal cerebellar vermis morphology, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Osteosarcoma	Weight loss	ORPHA:668
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Cryptorchidism	ORPHA:251071
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle	ORPHA:261183
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Cholesterol gallstones, Obesity	ORPHA:209902
Micro Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Intrauterine growth retardation, Abnormal cerebellum...	ORPHA:2510
Systemic Capillary Leak Syndrome	Weight loss, Multiple myeloma	ORPHA:188
Neuroendocrine Tumor Of The Rectum	Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100082
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Obesity, Neoplasm of the anterior...	ORPHA:54595
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly	OMIM:615122
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome...	ORPHA:77261
Kleefstra Syndrome Due To 9Q34 Microdeletion	Obesity, Cryptorchidism, Failure to thrive, Abnormal testis morphology	ORPHA:96147
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea, Decreased response to growth hormone stimulation test, Gonadotro...	OMIM:610978
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Ca...	ORPHA:2072
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Hypoparathyroidism, Generalized hypertrichosis	ORPHA:50810
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:300614
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy	OMIM:605013
Camurati-Engelmann Disease, Type 2	Skeletal muscle atrophy, Hip contracture, Knee flexion contracture	OMIM:606631
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis	ORPHA:3165
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Ventriculomegaly, Hypoplasia of the odontoid process, Cervical spinal can...	ORPHA:508533
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Man1B1-Cdg	Truncal obesity	ORPHA:397941
Myopathy, Mitochondrial, And Ataxia	Pallor, Increased circulating prolactin concentration	OMIM:617675
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Weight loss, Failure to thrive	ORPHA:1842
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Arthrogryposis multiplex congenita, Neonatal death	OMIM:608013
Bronchial Neuroendocrine Tumor	Weight loss, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration	ORPHA:97287
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy	OMIM:609015
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death	OMIM:231680
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F...	OMIM:248800
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Kyphosis	OMIM:615433
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Mercury Poisoning	Respiratory distress, Dyspnea	ORPHA:330021
Cirrhosis, Familial	Lethargy	OMIM:215600
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Biotinidase Deficiency	Alopecia, Respiratory distress, Apnea, Limb muscle weakness, Hyperventilation	ORPHA:79241
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Kyphosis	OMIM:618138
Chronic Beryllium Disease	Weight loss	ORPHA:133
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Spastic Paraplegia 79B, Autosomal Recessive	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:615491
Adiposis Dolorosa	Obesity	ORPHA:36397
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Low anterior hairline, Flexion co...	OMIM:218000
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Rabin-Pappas Syndrome	Failure to thrive in infancy, Overgrowth, Obesity	OMIM:620155
Marfan Syndrome	Ectopia lentis, Hypoplasia of the iris, Slender build, Cachexia, Lens subluxation, Flat cornea, L...	ORPHA:558
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Degcags Syndrome	Ventriculomegaly, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth ...	OMIM:619488
Cohen Syndrome	Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Small for...	OMIM:216550
Shashi-Pena Syndrome	Ventriculomegaly, Kyphosis, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Mil...	OMIM:617190
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness	OMIM:612300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Exercise-induced rhabdomyolysis	ORPHA:26793
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Adenoc...	ORPHA:171
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
X-Linked Intellectual Disability, Seemanova Type	Hypoplasia of the musculature, Skeletal muscle atrophy, Cryptorchidism	ORPHA:85323
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Thymoma, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct...	OMIM:269200
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Cholelithiasis, Weight loss	ORPHA:171876
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy	OMIM:608836
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Myopathy	OMIM:115197
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hyperlordosis, Hepatomega...	OMIM:253010
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Thoracic scoliosis, Neonatal death, Polyhydramnios, Scoliosis, Kyp...	OMIM:620351
Bardet-Biedl Syndrome 17	Obesity	OMIM:615994
Joubert Syndrome 8	Obesity	OMIM:612291
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Atypical Rett Syndrome	Scoliosis, Kyphosis, Abnormal autonomic nervous system physiology	ORPHA:3095
Angelman Syndrome Due To A Point Mutation	Obesity	ORPHA:411511
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Neuroblastoma	Neoplasm of the nervous system, Weight loss, Neuroblastoma	ORPHA:635
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex...	OMIM:255800
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Skeletal muscle atrophy, Testicular torsion, Cryptorchidism, Sparse eyelashes, Fl...	ORPHA:75496
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Intrauterine growth retard...	ORPHA:628
Fliedner-Zweier Syndrome	Obesity	OMIM:620511
Chédiak-Higashi Syndrome	Iris hypopigmentation, Abnormality of neutrophil physiology, Cerebellar atrophy, Hemophagocytosis...	ORPHA:167
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Diamond-Blackfan Anemia 21	Obesity, Osteosarcoma	OMIM:620072
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Ovarian cyst	OMIM:610475
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy	OMIM:105550
Hurler-Scheie Syndrome	Umbilical hernia, Splenomegaly, Hepatomegaly, Scoliosis, Kyphosis	OMIM:607015
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Skeletal muscle atrophy	ORPHA:2254
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Kleefstra Syndrome 1	Obesity, Cryptorchidism	OMIM:610253
Necrotizing Enterocolitis	Lethargy	ORPHA:391673
Lissencephaly 8	Skeletal muscle atrophy	OMIM:617255
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Bilateral breast hypoplasia	ORPHA:319675
Kufor-Rakeb Syndrome	Blepharospasm, Oculogyric crisis, Lethargy, Apathy, Lingual dystonia, Bradykinesia	ORPHA:306674
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Umbilical hernia, Intrauterine growth retardation, Vertebr...	ORPHA:2311
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:137834
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity	OMIM:619680
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Failure to thrive, Tall stature, Cryptorchidism, Weight loss, Testicular a...	ORPHA:361
Japanese Encephalitis	Skeletal muscle atrophy, Abnormal pattern of respiration, Elbow flexion contracture, Respiratory ...	ORPHA:79139
Neuroendocrine Tumor Of Stomach	Zollinger-Ellison syndrome, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Par...	ORPHA:100075
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Unilateral cryptorchidism, High anterior hairline, Skeletal muscle atrophy	OMIM:618862
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity	OMIM:608624
Renal Hypoplasia, Bilateral	Lethargy	ORPHA:97362
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy	OMIM:618603
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98855
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Failure to thrive, Decreased response to growth hormone stimulation test, Decreased testicular si...	ORPHA:98754
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Skin ulcer, Hemophagocytosis	ORPHA:86884
Kniest Dysplasia	Respiratory distress, Hip contracture	OMIM:156550
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy	ORPHA:101006
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Pachyonychia Congenita	Respiratory distress, Alopecia, Nail dystrophy	ORPHA:2309
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Respiratory distress, Sparse eyelashe...	OMIM:305100
Aromatase Deficiency	Tall stature, Obesity, Eunuchoid habitus, Cryptorchidism, Enlarged polycystic ovaries, Macroorchi...	ORPHA:91
Short Stature, Brussels Type	Calcification of cartilage	ORPHA:2867
Pontocerebellar Hypoplasia, Type 1B	Flexion contracture, Skeletal muscle atrophy	OMIM:614678
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Failure to thrive	ORPHA:261197
Gm2 Gangliosidosis, Ab Variant	Short stature, Postnatal growth retardation, Neurodegeneration, Cerebral atrophy	ORPHA:309246
Carpenter Syndrome 1	Obesity, Cryptorchidism	OMIM:201000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ...	ORPHA:70
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Decreased response to growth hormone stimulation test, Decreased testicular si...	ORPHA:98793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, Ap...	ORPHA:17
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Pineoblastoma	Pinealoma, Retinoblastoma	ORPHA:251909
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Tall stature, Obesity, Neoplasm, Large for gestational age, Cryptor...	ORPHA:116
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Kyphosis	ORPHA:500180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Decreased response to growth hormone stimulation test, Decreased testicular si...	ORPHA:177904
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy	OMIM:617695
Kallmann Syndrome	Breast hypoplasia, Obesity, Decreased testicular size, Cryptorchidism, Anterior hypopituitarism	ORPHA:478
Gerstmann-Straussler Disease	Weight loss, Cerebellar atrophy	OMIM:137440
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy	ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency	Lethargy	ORPHA:746
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Decreased response to growth hormone stimulation test, Decreased testicular si...	ORPHA:177901
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy	OMIM:162100
Bullous Pemphigoid	Weight loss	ORPHA:703
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
X-Linked Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98863
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Stillbirth	OMIM:256050
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis	OMIM:128100
Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98853
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy	ORPHA:79284
Methylmalonic Aciduria, Cblb Type	Lethargy	OMIM:251110
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Supernumerary nipple	OMIM:617339
Amyotrophic Lateral Sclerosis 2, Juvenile	Distal amyotrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Retrocollis, Hand muscl...	OMIM:205100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis	OMIM:609541
Wieacker-Wolff Syndrome	Short neck, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis	OMIM:314580
Tetrasomy 5P	Respiratory distress, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:3309
Alternating Hemiplegia Of Childhood	Mydriasis, Pallor, Abnormal autonomic nervous system physiology	ORPHA:2131
Melorheostosis	Skeletal muscle atrophy	ORPHA:2485
Prader-Willi Syndrome	Class III obesity, Decreased response to growth hormone stimulation test, Failure to thrive in in...	OMIM:176270
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Lethargy, Athetosis	OMIM:614866
Fountain Syndrome	Facial edema, Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosi...	ORPHA:3219
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Edema of the dorsum of hands, Edema ...	ORPHA:521426
Cockayne Syndrome Type 2	Hepatomegaly, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:90322
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:559
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Medial flaring of the eyebrow, Low posterior hairline, Sparse eyelashes	OMIM:612863
Spondyloenchondrodysplasia	Platyspondyly, Ventriculomegaly, Hepatitis, Pancytopenia, Abnormal lateral ventricle morphology, ...	ORPHA:1855
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Diamond-Blackfan Anemia 10	Respiratory distress, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia	OMIM:613309
Farber Disease	Respiratory distress, Flexion contracture, Skeletal muscle atrophy	ORPHA:333
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Den Hoed-De Boer-Voisin Syndrome	Obesity, Overweight, Decreased body weight	OMIM:619229
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Umbilical hernia	OMIM:618272
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy	OMIM:615578
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Familial Hypoaldosteronism	Lethargy	ORPHA:427
Achondroplasia	Obesity	ORPHA:15
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Congenital Analbuminemia	Obesity, Small for gestational age	ORPHA:86816
Refractory Celiac Disease	Weight loss, Lymphoma	ORPHA:398063
Angelman Syndrome	Obesity	OMIM:105830
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Respiratory distress	ORPHA:438216
Takayasu Arteritis	Weight loss	ORPHA:3287
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Cerebellar hypoplasia, Polyhydr...	ORPHA:261349
Allan-Herndon-Dudley Syndrome	Flexion contracture, Skeletal muscle atrophy, Limb hypertonia, Cryptorchidism	ORPHA:59
Felty Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphoma	ORPHA:47612
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy	OMIM:620233
Pancreatoblastoma	Pancreatic calcification, Weight loss	ORPHA:677
Insulin-Resistance Syndrome Type B	Lymphoma, Abnormality of body weight, Polycystic ovaries, Enlarged polycystic ovaries, Hodgkin ly...	ORPHA:2298
Polycythemia Vera	Acute leukemia, Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomeg...	ORPHA:729
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Obesity, Truncal obesity, Abdominal obesity	OMIM:209900
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Limb hypertonia, Generalized amyotrophy	OMIM:617710
White-Sutton Syndrome	Obesity, Failure to thrive	OMIM:616364
Retinitis Pigmentosa	Obesity, Abnormal testis morphology	ORPHA:791
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Distal amyotrophy	ORPHA:2821
Pycnodysostosis	Spondylolysis, Chiari malformation, Hepatosplenomegaly, Intrauterine growth retardation, Spondylo...	ORPHA:763
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Intrauterine growth retardation, Cerebellar hypoplasia, Sh...	OMIM:248700
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
Generalized Pustular Psoriasis	Obesity, Overweight	ORPHA:247353
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
Polyarteritis Nodosa	Weight loss	ORPHA:767
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Obesity	ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Choanal Atresia	Respiratory distress	ORPHA:137914
Biotinidase Deficiency	Lethargy	OMIM:253260
Insulin-Like Growth Factor I, Resistance To	Truncal obesity, Decreased body weight	OMIM:270450
Posterior Column Ataxia With Retinitis Pigmentosa	Camptodactyly, Joint contracture of the hand, Flexion contracture of finger, Skeletal muscle atrophy	OMIM:609033
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Depression	ORPHA:90674
Cohen Syndrome	Failure to thrive in infancy, Obesity, Cryptorchidism	ORPHA:193
Magel2-Related Prader-Willi-Like Syndrome	Lethargy	ORPHA:398069
Kleefstra Syndrome	Obesity, Cryptorchidism, Supernumerary nipple	ORPHA:261494
Stickler Syndrome	Cataract, Ectopia lentis, Slender build, Astigmatism, Cachexia	ORPHA:828
Jaberi-Elahi Syndrome	Optic atrophy, Cerebellar vermis atrophy, Scoliosis, Kyphosis, Dandy-Walker malformation	OMIM:617988
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology	ORPHA:3068
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Polymyositis	Weight loss, Breast carcinoma	ORPHA:732
Camurati-Engelmann Disease	Hepatomegaly, Slender build, Cachexia, Splenomegaly	ORPHA:1328
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Skeletal muscle atrophy	OMIM:607598
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus callosum, Paten...	ORPHA:434179
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Decreased hemoglobin concentration, Thrombocytopenia, Hepatomega...	OMIM:619005
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Nail dystrophy, Myositis, Tachypnea, Sparse hair	OMIM:615934
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A...	OMIM:603553
Alveolar Echinococcosis	Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ...	ORPHA:284
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Ocular albinism, Squamous cell carcinoma of the skin, Astigmatis...	ORPHA:79430
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:619487
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy	ORPHA:395
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Late-Onset Isolated Acth Deficiency	Lethargy	ORPHA:199299
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture	OMIM:616271
Combined Oxidative Phosphorylation Defect Type 7	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes...	ORPHA:254930
Cntnap2-Related Developmental And Epileptic Encephalopathy	Obesity	ORPHA:163681
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Contractures of the large joints	OMIM:616716
H Syndrome	Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Hydrocephalus, Corneal arcus	ORPHA:168569
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Unilateral breast hypoplasia, Hypertrichosis	OMIM:300968
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Facial palsy, Scoliosis, Hyperlordosis	OMIM:181405
Lateral Meningocele Syndrome	Umbilical hernia, Biconcave vertebral bodies, Chiari type I malformation, Short neck, Patent duct...	OMIM:130720
Cholera	Lethargy	ORPHA:173
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Fucosidosis	Anterior beaking of lumbar vertebrae, Hepatomegaly, Abnormality of the gallbladder, Kyphosis	ORPHA:349
Coffin-Lowry Syndrome	Optic atrophy, Ventriculomegaly, Abnormal form of the vertebral bodies, Abnormality of neuronal m...	ORPHA:192
Glucagonoma	Pituitary adenoma, Adrenocortical adenoma, Increased circulating prolactin concentration, Subcuta...	ORPHA:97280
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy	OMIM:162400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Obesity	OMIM:618493
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Macroglossia, Left ventricular hypertrophy, Respiratory distress	ORPHA:308552
Trichinellosis	Lethargy, Apathy	ORPHA:863
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Respiratory distress, Breast hypoplasia, Long eyelashes, Cryptorch...	OMIM:224690
Sézary Syndrome	Alopecia, Skeletal muscle atrophy, Nail dystrophy	ORPHA:3162
Paternal Uniparental Disomy Of Chromosome 1	Obesity	ORPHA:251004
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Respiratory distress, Left ventricular hypertrophy, Glycogen accumula...	ORPHA:365
Posterior Urethral Valve	Lethargy	ORPHA:93110
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Conjunctival telangiectasia,...	OMIM:615919
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Pallor, Adren...	ORPHA:91347
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Kyphosis, Edema	OMIM:617527
Mgat2-Cdg	Respiratory distress, Long eyelashes, Hypoplastic nipples, Hirsutism	ORPHA:79329
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Apnea, Cryptorchidism, Hirsutism, Synophrys	OMIM:614969
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Lymphopenia, Cerebella...	OMIM:619708
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Premature graying of hair, Limb muscle weakness, Myopathy, Limb-girdle m...	OMIM:112250
Ulnar-Mammary Syndrome	Breast aplasia, Hypoplastic nipples, Obesity, Cryptorchidism	ORPHA:3138
Cole-Carpenter Syndrome 2	Platyspondyly, Hydrocephalus, Oligohydramnios, Kyphosis	OMIM:616294
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:183900
Ullrich Congenital Muscular Dystrophy 1A	Facial palsy, Scoliosis, Kyphosis, Spinal rigidity	OMIM:254090
Combined Oxidative Phosphorylation Deficiency 7	Facial paralysis, Facial diplegia, Skeletal muscle atrophy	OMIM:613559
Lateral Meningocele Syndrome	Chiari malformation, Abnormal form of the vertebral bodies, Umbilical hernia, Short neck, Hyperlo...	ORPHA:2789
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Abdominal situs inversus, Hemivertebrae, Abnormal interverte...	ORPHA:2062
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Prominent eyelashes	OMIM:616420
Monosomy 13Q34	Obesity	ORPHA:96168
Isolated Complex I Deficiency	Lethargy	ORPHA:2609
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Olivopontocerebellar atrophy, Iris atrophy, Orthostatic hypotension, Abnormal ...	OMIM:146500
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia	ORPHA:544482
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy	ORPHA:230839
Peripartum Cardiomyopathy	Obesity	ORPHA:563
Citrullinemia, Classic	Lethargy	OMIM:215700
Glycine Encephalopathy	Lethargy	ORPHA:407
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Keratitis, Skin ulcer, Microcytic anemia, Lymphop...	ORPHA:906
Glycogen Storage Disease Iv	Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy	OMIM:232500
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Cryptorchidism	ORPHA:1555
Chops Syndrome	Obesity, Cryptorchidism	OMIM:616368
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature	ORPHA:98673
Hydranencephaly	Opisthotonus, Lethargy	ORPHA:2177
Spondyloepiphyseal Dysplasia Tarda	Joint swelling, Abnormal cartilage morphology	ORPHA:93284
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio...	ORPHA:1435
3Q29 Microduplication Syndrome	Obesity	ORPHA:251038
Down Syndrome	Leukemia, Obesity, Acute megakaryocytic leukemia	ORPHA:870
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Ganglioneuroblastoma, Increased circulating prolactin concentration, Decreased response to growth...	ORPHA:293987
Rheumatoid Arthritis	Weight loss	OMIM:180300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Increased circulating gonadotropin level, Streak ovary, Skeletal muscle atrophy, Testicular dysge...	ORPHA:168563
Yao Syndrome	Weight loss	OMIM:617321
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor...	ORPHA:320375
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3121
Trisomy 17P	High anterior hairline, Skeletal muscle atrophy, Low posterior hairline, Generalized hirsutism, B...	ORPHA:261290
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy	ORPHA:1486
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, O...	ORPHA:79444
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Abnormality of neuronal migra...	ORPHA:464311
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Communicating hydrocephal...	ORPHA:2050
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Fatal Familial Insomnia	Weight loss	OMIM:600072
Achondroplasia	Respiratory distress, Death in infancy	OMIM:100800
Esophageal Atresia	Coloboma, Pallor, Cyanosis	ORPHA:1199
Werner Syndrome	Abnormal hair whorl, Skeletal muscle atrophy, Premature graying of hair, White forelock, Pili tor...	ORPHA:902
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cryptorchidism	OMIM:217980
Poems Syndrome	Lymphoproliferative disorder, Hemangioma, Weight loss, Increased circulating prolactin concentration	ORPHA:2905
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Obesity, Failure to thrive	ORPHA:369950
Koolen-De Vries Syndrome	Ventriculomegaly, Intrauterine growth retardation, Spondylolisthesis, Patent ductus arteriosus, G...	OMIM:610443
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Scoliosis, Kyphosis, Retrocerebellar cyst	ORPHA:364028
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Oligohydramnios, Butterfly vertebrae, Short neck, Hemivertebrae,...	ORPHA:958
Sarcoidosis	Cataract, Hepatic failure, Decreased liver function, Leukopenia, Portal hypertension, Increased T...	ORPHA:797
Spinocerebellar Ataxia Type 1	Abnormality of masticatory muscle, Skeletal muscle atrophy	ORPHA:98755
Phace Syndrome	Cataract, Capillary hemangioma, Cerebellar hypoplasia, Heterochromia iridis, Sclerocornea, Lens c...	ORPHA:42775
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Umbilical hernia, Kyphoscoliosis, Hypochromic microcytic anemia, Hemivertebrae, R...	OMIM:301040
Secondary Short Bowel Syndrome	Cholestasis, Weight loss, Failure to thrive	ORPHA:95427
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:607155
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Vertebral segmentation de...	ORPHA:261318
Bacterial Toxic-Shock Syndrome	Myositis, Tachypnea, Respiratory distress	ORPHA:36234
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lipid droplets, Scapular wing...	ORPHA:26791
L1 Syndrome	Skeletal muscle atrophy	ORPHA:275543
Osteogenesis Imperfecta, Type X	Respiratory distress, Death in childhood	OMIM:613848
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Distal Deletion 12Q	Annular pancreas, Pituitary adenoma, Failure to thrive in infancy, Obesity, Proportionate tall st...	ORPHA:96149
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Perry Syndrome	Weight loss	OMIM:168605
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Autosomal Recessive Spastic Paraplegia Type 11	Obesity, Overweight	ORPHA:2822
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ...	ORPHA:94068
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Primary Intestinal Lymphangiectasia	Weight loss, Disseminated cutaneous warts	ORPHA:90362
Distal Triplication 15Q	Kyphosis, Intrauterine growth retardation, Hydrocephalus, Scoliosis, Patent ductus arteriosus, Da...	ORPHA:314588
Angelman Syndrome	Obesity	ORPHA:72
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive, Lymphoma	OMIM:212750
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy	OMIM:311250
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Cryptorchidism, Congenital muscular torticollis...	ORPHA:2215
Noonan Syndrome 14	Lateral ventricle dilatation, Lymphopenia, Short neck, Polyhydramnios, Kyphosis	OMIM:619745
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrichosis, Respiratory distress, Long eyelashes, Thick hair, Macroglossia, Flexion contracture	ORPHA:505248
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerebellar atrophy, Cerulean cataract, Anterior cortica...	ORPHA:67036
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
3M Syndrome	Intrauterine growth retardation, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis...	ORPHA:2616
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Hydrocephalus, Scoliosis, Kyphosis	OMIM:619951
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Upper limb muscle weakness, Low...	OMIM:620538
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea, Myopathy	OMIM:261740
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Sparse hair, Skeletal muscle atrophy, Premature graying of hair	OMIM:616200
Radio-Renal Syndrome	Respiratory distress, Dyspnea	ORPHA:3015
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Flexion contracture, Skeletal muscle atrophy, Limb hypertonia	ORPHA:481152
Spinocerebellar Ataxia Type 18	Skeletal muscle atrophy	ORPHA:98771
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp...	OMIM:108300
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Flexion contracture, Skeletal muscle atrophy	OMIM:619183
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Weight loss...	ORPHA:91139
Prader-Willi Syndrome	Small pituitary gland, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:739
Bardet-Biedl Syndrome 20	Obesity, Bilateral cryptorchidism	OMIM:619471
Mucopolysaccharidosis Type 6	Short neck, Kyphosis, Splenomegaly, Ovoid vertebral bodies	ORPHA:583
Malt Lymphoma	B-cell lymphoma, Weight loss	ORPHA:52417
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Myeloproliferative disorder, Neoplasm	ORPHA:70591
Keutel Syndrome	Calcification of cartilage, Ventricular septal defect	ORPHA:85202
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy	ORPHA:96
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Neurodegeneration, Optic atrophy, Elevated circulating hepatic transaminase concentration, Cerebr...	OMIM:616878
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Obesity, Anterior pituitary hypoplasia	ORPHA:177907
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Abdominal situs inversus, Cerebellar vermis hypoplasia	OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardati...	OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Scoliosis, Kyphosis	OMIM:617061
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Becker Muscular Dystrophy	Skeletal muscle atrophy	ORPHA:98895
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Obesity, Truncal obesity, Multinodular goiter	OMIM:203800
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea	ORPHA:100050
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ragged-red muscle fibers, Episodic respiratory distress, Dyspnea, Hyperventilation	ORPHA:255210
Argininosuccinic Aciduria	Lethargy	OMIM:207900
Moderate Hemophilia A	Joint swelling, Cartilage destruction	ORPHA:169805
White-Sutton Syndrome	Obesity	ORPHA:468678
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Truncal obesity	OMIM:616541
Loeffler Endocarditis	Weight loss	ORPHA:75566
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus...	ORPHA:2916
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Weight loss, Failure to thrive	ORPHA:79128
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity, Cryptorchidism	OMIM:616078
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Ovarian cyst	OMIM:618188
Graft Versus Host Disease	Hepatosplenomegaly, Hemophagocytosis, Scaling skin	ORPHA:39812
Neuraminidase Deficiency	Skeletal muscle atrophy	OMIM:256550
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy	ORPHA:79282
Mucolipidosis Iii Alpha/Beta	Kyphosis, Hepatomegaly, Scoliosis, Spondylolisthesis	OMIM:252600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Obesity	ORPHA:369837
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Annular pancreas	ORPHA:210122
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Moebius Syndrome	Skeletal muscle atrophy, Breast aplasia, Death in infancy, Facial palsy, Arthrogryposis multiplex...	ORPHA:570
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column...	ORPHA:93360
Pemphigus Vulgaris	Weight loss	ORPHA:704
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Respiratory distress, Breast aplasia, Cryptorchidism, Dyspnea	ORPHA:2554
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Obesity	OMIM:620654
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Granulomatosis With Polyangiitis	Conjunctivitis, Skin ulcer, Granulomatosis, Keratitis	OMIM:608710
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Global brain atrophy, Neurodegeneration, Acanthocytosis, Cerebral degeneration	OMIM:234200
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Obesity, Streak ovary, Cryptorchidism, Gonadoblastoma, Cervix cancer, I...	ORPHA:1772
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Dysbetalipoproteinemia	Obesity	ORPHA:412
Marshall-Smith Syndrome	Atlantoaxial dislocation, Ventriculomegaly, Hypoplasia of the odontoid process, Optic nerve hypop...	OMIM:602535
Semilobar Holoprosencephaly	Depression, Lethargy, Apathy, Limb dystonia	ORPHA:220386
Alobar Holoprosencephaly	Depression, Lethargy, Apathy, Limb dystonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Lethargy, Apathy, Limb dystonia	ORPHA:93926
Lobar Holoprosencephaly	Depression, Lethargy, Apathy, Limb dystonia	ORPHA:93924
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Scoliosis, Kyphosis	ORPHA:261144
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:616586
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy	OMIM:252010
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity	OMIM:610489
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of ...	OMIM:603546
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hypoparathyroidism, Thyroid dysgenesis	ORPHA:209905
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Weight loss, Hepa...	ORPHA:139402
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, O...	ORPHA:79443
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatosplenomegaly, Weight loss, Abnormal testis morphology, Hepatomega...	ORPHA:85450
Shwachman-Diamond Syndrome 1	Respiratory distress, Myocardial necrosis	OMIM:260400
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:582
Ramos-Arroyo Syndrome	Respiratory distress, High anterior hairline, Sparse scalp hair	ORPHA:1051
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Facial diplegia, Skeletal muscle atrophy	OMIM:612073
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy	OMIM:256810
Adrenoleukodystrophy	Neurodegeneration	OMIM:300100
Helsmoortel-Van Der Aa Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism...	OMIM:615873
Malignant Atrophic Papulosis	Cataract, Peritonitis, Weight loss	ORPHA:679
Koolen-De Vries Syndrome	Ventriculomegaly, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis	ORPHA:96169
Sandhoff Disease	Macroglossia, Skeletal muscle atrophy, Death in childhood	OMIM:268800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227990
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal sensory nerve conduction velocity, Scoliosis, Kyphosis	ORPHA:88628
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Failure to thrive, Meningioma, Obesity, Neoplasm, Cryptorchidism, Pilomatrixoma, Spinal cord tumor	ORPHA:353281
Lmna-Related Cardiocutaneous Progeria Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Pulmon...	ORPHA:363618
Cryptococcosis	Respiratory distress, Dyspnea, Limb muscle weakness	ORPHA:1546
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy	OMIM:617156
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Acrodermatitis Enteropathica	Conjunctivitis, Weight loss, Failure to thrive, Corneal erosion	ORPHA:37
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Cryptorchidism, Supernumerary nipple	OMIM:618653
Hajdu-Cheney Syndrome	Chiari malformation, Hypoplastic 5th lumbar vertebrae, Umbilical hernia, Splenomegaly, Biconcave ...	ORPHA:955
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Patent d...	OMIM:153400
Alexander Disease	Short neck, Hyperlordosis, Abnormal autonomic nervous system physiology, Hydrocephalus, Aqueducta...	ORPHA:58
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
Weaver Syndrome	Ventriculomegaly, Kyphosis, Lateral ventricle dilatation, Umbilical hernia, Cerebellar hypoplasia...	OMIM:277590
Choreoacanthocytosis	Limb muscle weakness, Skeletal muscle atrophy	OMIM:200150
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Unilateral Polymicrogyria	Abnormal heart morphology, Abnormal posturing, Perisylvian polymicrogyria	ORPHA:268943
Amoebiasis Due To Free-Living Amoebae	Lethargy	ORPHA:68
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Splenom...	OMIM:602782
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea, Hypertrichosis	ORPHA:2330
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea	ORPHA:3342
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ...	ORPHA:280
Smith-Lemli-Opitz Syndrome	Optic atrophy, Ventriculomegaly, Abnormal form of the vertebral bodies, Abnormality of the gallbl...	ORPHA:818
Cog8-Cdg	Skeletal muscle atrophy	ORPHA:95428
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	ORPHA:415
Neurodegeneration With Brain Iron Accumulation 2B	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:610217
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Obesity, Truncal obesity	ORPHA:466950
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Cutis laxa, Thrombocytopenia, Anemia	OMIM:222700
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Harrod Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2115
Osteogenesis Imperfecta, Type Xiii	Generalized hirsutism, Long eyelashes, Skeletal muscle atrophy	OMIM:614856
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Donohue Syndrome	Skeletal muscle atrophy, Ovarian cyst, Hypertrichosis	OMIM:246200
7Q11.23 Microduplication Syndrome	Obesity, Cryptorchidism	ORPHA:96121
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Holt-Oram Syndrome	Patent ductus arteriosus, Scoliosis, Kyphosis	ORPHA:392
Cocaine Intoxication	Respiratory distress, Hyperventilation, Tachypnea, Rhabdomyolysis	ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Obesity	OMIM:301066
Cockayne Syndrome A	Optic atrophy, Ventriculomegaly, Abnormal auditory evoked potentials, Cerebellar atrophy, Decreas...	OMIM:216400
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Colchicine Poisoning	Respiratory distress, Alopecia	ORPHA:31824
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Abnormality of the cervical s...	ORPHA:464306
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Elbow flexion contracture, Respiratory distress, Apnea, Knee flexion con...	ORPHA:3206
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea...	OMIM:305620
Ethylene Glycol Poisoning	Tachypnea, Facial palsy, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Torticollis	ORPHA:536467
Walker-Warburg Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:899
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Pineal cyst, Truncal obesity	ORPHA:529962
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Intrauterine growth retardation, Oligohydramnios, Kyphosis	OMIM:616914
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis, Cerebellar atrophy	ORPHA:88644
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Scoliosis, Kyphosis	OMIM:616449
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis	OMIM:609128
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Arboleda-Tham Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Respiratory distress, Thin eyebrow, Bilateral crypt...	OMIM:616268
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Intrinsic hand muscle atrophy, Respiratory distress	OMIM:615273
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Cryptorchidism, My...	OMIM:254940
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Low posterior hairline, Highly arched eyebrow, Skeletal muscle atrophy, Low anterior hairline	OMIM:615802
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Spinocerebellar Ataxia 36	Skeletal muscle atrophy	OMIM:614153
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy	ORPHA:276198
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Pa...	OMIM:619991
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227982
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Peau d'orange	OMIM:177850
Combined Oxidative Phosphorylation Deficiency 15	Obesity	OMIM:614947
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, Thick eyebrow, Skeletal muscle atrophy, Low anterior hairline	OMIM:300232
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Neurodegener...	OMIM:619475
Adnp Syndrome	High anterior hairline, Respiratory distress, Cryptorchidism, Hirsutism, Sparse scalp hair	ORPHA:404448
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Zollinger-Ellison syndr...	ORPHA:100078
Erdheim-Chester Disease	Abnormal cerebellum morphology, Weight loss, Retroperitoneal fibrosis	ORPHA:35687
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Optic disc coloboma, Vertebral segmentation defect, Short neck, Scoliosis, Kyph...	ORPHA:251014
Lujo Hemorrhagic Fever	Respiratory distress	ORPHA:319213
Atelis Syndrome 2	Kyphosis, Thrombocytopenia, Anemia, Patent ductus arteriosus, Sacral dimple	OMIM:620185
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Truncal obesity	ORPHA:2637
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Flexion contracture, Thick eyebrow, Skeletal muscle atrophy	OMIM:300243
Cono-Spondylar Dysplasia	Polyhydramnios, Short neck, Scoliosis, Kyphosis	ORPHA:420794
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Joint contracture of the hand, Skeletal muscle atrophy, Trichodysplasia, Absent eyebr...	OMIM:601701
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis, Optic disc coloboma	ORPHA:568
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatitis, Splenomegaly, Hepatic steatosis, Weight loss, Hepatomegaly	OMIM:615846
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Scoliosis, ...	ORPHA:394
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Intraute...	OMIM:133540
Kabuki Syndrome	Obesity, Cryptorchidism, Failure to thrive	ORPHA:2322
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Sparse eyebrow, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Retractile testis, S...	OMIM:617193
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, Short neck, Patent ductus arteriosus, Hemivert...	OMIM:618223
Neurodegeneration With Brain Iron Accumulation 4	Neurodegeneration, Optic atrophy, Cerebellar atrophy	OMIM:614298
Al Amyloidosis	Hepatomegaly, Abnormality of the liver, Weight loss, Abnormal salivary gland morphology	ORPHA:85443
Rett Syndrome	Skeletal muscle atrophy, Abnormal pattern of respiration	ORPHA:778
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation	OMIM:175050
Cushing Disease	Pituitary corticotropic cell adenoma, Adrenal hyperplasia, Increased body weight, Truncal obesity...	ORPHA:96253
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Cryptorchidism, Camptodact...	ORPHA:168572
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy	OMIM:620089
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Listeriosis	Respiratory distress, Rhabdomyolysis, Miscarriage	ORPHA:533
Niemann-Pick Disease, Type C2	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
1P36 Deletion Syndrome	Annular pancreas, Failure to thrive, Obesity, Cryptorchidism, Neuroblastoma	ORPHA:1606
Leigh Syndrome	Alopecia, Skeletal muscle atrophy, Abnormal pattern of respiration, Hypertrichosis, Multiple join...	ORPHA:506
Zttk Syndrome	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Absent gallbladder, Cerebellar ...	OMIM:617140
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Knee flexion contracture	ORPHA:435638
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity	OMIM:619269
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:36426
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Obesity, Cryptorchidism	OMIM:614231
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Facial palsy, Skeletal muscle atrophy, Myopathy	ORPHA:1358
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy	OMIM:614300
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hyposegmentation of neutrophil nuc...	OMIM:618019
12Q14 Microdeletion Syndrome	Thick eyebrow, Skeletal muscle atrophy, Synophrys	ORPHA:94063
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Cerebellar dentate nucleus calcification...	ORPHA:90324
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy	ORPHA:226307
Kniest Dysplasia	Abnormal cartilage collagen	ORPHA:485
Congenital Disorder Of Glycosylation, Type Iie	Hypertrichosis, Skeletal muscle atrophy, Death in infancy, Low anterior hairline	OMIM:608779
Campomelic Dysplasia	Ventriculomegaly, Short neck, Poorly ossified cervical vertebrae, Scoliosis, Kyphosis	ORPHA:140
Glycerol Kinase Deficiency	Lethargy	OMIM:307030
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Polycystic ovaries, Limb-girdle muscle weakness, Pelvic ...	ORPHA:79240
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:537
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Tricuspid valve prolapse, Abnormal cartilage morphology	ORPHA:2396
Gaisböck Syndrome	Obesity, Overweight	ORPHA:90041
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu...	ORPHA:2912
Scimitar Syndrome	Respiratory distress, Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm	ORPHA:185
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:75565
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Thick eyebrow	OMIM:615471
Recon Progeroid Syndrome	Skeletal muscle atrophy, Absent lower eyelashes, Hirsutism	OMIM:620370
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Myhre Syndrome	Obesity, Small for gestational age, Cryptorchidism	OMIM:139210
Adenylosuccinase Deficiency	Skeletal muscle atrophy	OMIM:103050
Refsum Disease	Skeletal muscle atrophy	ORPHA:773
Osteoglophonic Dysplasia	Respiratory distress, Cryptorchidism, Camptodactyly of finger	OMIM:166250
Rett Syndrome, Congenital Variant	Pachygyria, Scoliosis, Kyphosis, Simplified gyral pattern	OMIM:613454
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Umbilical hernia, Short neck, Thoracolumbar scoliosis, Hyd...	OMIM:265000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Truncal obesity	OMIM:210720
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity	ORPHA:466943
Addison Disease	Thymoma, Failure to thrive, Weight loss, Hypoparathyroidism, Primary testicular failure	ORPHA:85138
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2671
Aortic Arch Interruption	Respiratory distress, Left ventricular hypertrophy, Tachypnea, Exertional dyspnea	ORPHA:2299
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Abnormal testis morphology, Dyspnea, Abnor...	ORPHA:2556
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Obesity, Cryptorchidism, Hypoplasia of the thymus, Hypoparathy...	ORPHA:567
Rubinstein-Taybi Syndrome 1	Highly arched eyebrow, Facial hypertrichosis, Bilateral cryptorchidism, Respiratory distress, Lon...	OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture	OMIM:253800
Eosinophilic Granulomatosis With Polyangiitis	Weight loss	ORPHA:183
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Cryptorchidism, Low posterior hairline, Aplasia...	ORPHA:2990
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Hydrocephalus, A...	ORPHA:3042
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Death in childhood	OMIM:618252
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Fanconi Anemia	Cataract, Abnormality of the liver, Neoplasm, Astigmatism, Aplasia/Hypoplasia of the iris, Crypto...	ORPHA:84
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Sparse eyebrow, Hirsutism, Arthrogryposis multiplex congenita, Skeletal muscle atrophy	ORPHA:496641
Lysinuric Protein Intolerance	Lethargy	ORPHA:470
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Obesity, Failure to thrive, Pseudohypoparathyroidism	OMIM:617157
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:617602
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration	ORPHA:79244
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Goodpasture Syndrome	Anemia, Pallor, Cyanosis	OMIM:233450
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Thick eyebrow, Di...	ORPHA:488632
Localized Scleroderma	Patchy alopecia, Flexion contracture, Skeletal muscle atrophy, Myopathy	ORPHA:90289
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Classical-Like Ehlers-Danlos Syndrome Type 2	Umbilical hernia, Thoracic scoliosis, Kyphoscoliosis, Pericardial effusion, Kyphosis, Sacral dimple	ORPHA:536532
Giant Cell Arteritis	Weight loss	ORPHA:397
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis	ORPHA:251061
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Pancreatic hypoplasia, Failure to thrive	ORPHA:99885
White-Kernohan Syndrome	Obesity	OMIM:619426
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Neurodegeneration, Short ...	OMIM:620455
Mucolipidosis Type Ii	Umbilical hernia, Hepatosplenomegaly, Oligohydramnios, Splenomegaly, Kyphosis	ORPHA:576
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Obesity, Hypo...	OMIM:181450
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Obesity	ORPHA:444077
6Q Terminal Deletion Syndrome	Obesity, Failure to thrive	ORPHA:75857
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:2479
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness	ORPHA:101000
Schinzel-Giedion Syndrome	Annular pancreas, Respiratory distress, Streak ovary, Generalized hypertrichosis, Camptodactyly, ...	ORPHA:798
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Campomelic Dysplasia	Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Apnea, Shor...	OMIM:114290
Turner Syndrome Due To Structural X Chromosome Anomalies	Abnormality of the ovary, Failure to thrive in infancy, Obesity, Melanoma, Increased circulating ...	ORPHA:99413
Mosaic Monosomy X	Abnormality of the ovary, Failure to thrive in infancy, Obesity, Melanoma, Increased circulating ...	ORPHA:99228
Monosomy X	Abnormality of the ovary, Failure to thrive in infancy, Obesity, Melanoma, Increased circulating ...	ORPHA:99226
Turner Syndrome	Abnormality of the ovary, Failure to thrive in infancy, Obesity, Melanoma, Increased circulating ...	ORPHA:881
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Congenital Myopathy 13	Skeletal muscle atrophy, Cryptorchidism, Weakness of facial musculature, Fatty replacement of ske...	OMIM:255995
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Cerebellar atrophy, Hyperlordosis, Communicating hydrocephalus, Scoliosis, Kyph...	OMIM:617011
Fructose Intolerance, Hereditary	Lethargy	OMIM:229600
Poland Syndrome	Acute leukemia, Abnormality of the liver, Encephalocele, Vertebral segmentation defect, Short nec...	ORPHA:2911
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Respiratory distress, Contracture of the dist...	ORPHA:83617
Marburg Hemorrhagic Fever	Lethargy	ORPHA:99826
Tay-Sachs Disease	Quadriceps muscle atrophy, Hip flexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:845
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Reactive Arthritis	Joint swelling, Cartilage destruction, Pericarditis	ORPHA:29207
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Ventriculomegaly, Cervical spinal canal stenosis, Spondylolisthesis, Chiari type I...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Ventriculomegaly, Cervical spinal canal stenosis, Spondylolisthesis, Chiari type I...	ORPHA:363958
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Respiratory distress, Congenital diaphragmati...	ORPHA:2255
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea	ORPHA:340
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Dyspnea, Nail dystrophy	ORPHA:79404
Gitelman Syndrome	Respiratory distress, Neoplasm of the pancreas, Rhabdomyolysis, Parathyroid adenoma	ORPHA:358
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Eisenmenger Syndrome	Lethargy, Patent ductus arteriosus	ORPHA:97214
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Neutropenia, Hepato...	OMIM:208400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Failure to thrive, Meningioma, Obesity, Cryptorchidism, Pilomatrixoma, Hydrocele testis	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Failure to thrive, Meningioma, Obesity, Cryptorchidism, Pilomatrixoma, Hydrocele testis	ORPHA:353277
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Truncal obesity	OMIM:301072
Intellectual Developmental Disorder, X-Linked 112	Pancreatic cysts, Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Cerebellar hypoplasia, Hy...	ORPHA:2461
Cowden Syndrome 5	Scoliosis, Kyphosis	OMIM:615108
Osteogenesis Imperfecta	Ventriculomegaly, Cervical kyphosis, Abnormal form of the vertebral bodies, Umbilical hernia, Enl...	ORPHA:666
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased sarcoplasmic glycogen, Skeletal muscle atrophy, Polycystic ovaries	ORPHA:264580
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Ventriculomegaly, Umbilical hernia, Joint swelling, Thrombocytopenia, Anemia, Scol...	ORPHA:534
Congenital Tracheomalacia	Dyspnea, Apnea, Intercostal retractions	ORPHA:95430
Mosaic Trisomy 20	Spinal canal stenosis, Intrauterine growth retardation, Vertebral segmentation defect, Vertebral ...	ORPHA:1724
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Cerebellar atrophy, Kyphosis, Pontocerebellar atrophy	ORPHA:171629
Cowden Syndrome 6	Scoliosis, Kyphosis	OMIM:615109
Igg4-Related Retroperitoneal Fibrosis	Hydrocele testis, Weight loss	ORPHA:49041
Igg4-Related Kidney Disease	Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing ...	ORPHA:449395
Multiple Myeloma	Tall stature, Weight loss	ORPHA:29073
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Coccidioidomycosis	Respiratory distress	ORPHA:228123
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse eyebrow, Fine hair, Respiratory distress, Nail dystrophy, Sparse eyelashes, Sparse scalp hair	OMIM:614748
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Short neck, Scoliosis, Patent ductus arteriosus, Sacral dimple	OMIM:616894
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Conjunctival telangiectasia, Cir...	OMIM:600376
Cystinosis, Nephropathic	Corneal crystals, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infa...	OMIM:219800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:476126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Nail dystrophy	OMIM:615895
Bardet-Biedl Syndrome	Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries, Childhood-onset truncal o...	ORPHA:110
Intellectual Developmental Disorder, Autosomal Dominant 73	Cerebellar vermis hypoplasia, Cerebellar vermis atrophy, Lumbar hyperlordosis, Thoracolumbar scol...	OMIM:620450
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventriculomegaly, Abnormal form of the vertebral bodies, Intrauterine growth re...	OMIM:194190
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Weight loss	ORPHA:309031
Carpenter Syndrome 2	Bilateral cryptorchidism, Supernumerary nipple, Obesity, Cryptorchidism, Hypoplastic nipples	OMIM:614976
Granulomatosis With Polyangiitis	Skin ulcer, Purpura, Granulomatosis	ORPHA:900
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:221
Brucellosis	Failure to thrive, Hypersplenism, Abnormality of the liver, Splenomegaly, Orchitis, Weight loss, ...	ORPHA:1304
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Obesity, Ovarian cyst, Parathyroid agenesis, Hypoplasia o...	OMIM:188400
Juvenile Polyposis Syndrome	Brain abscess, Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Grow...	ORPHA:2929
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Mend Syndrome	Abnormal auditory evoked potentials, Sacral dimple, Hydrocephalus, Kyphosis, Dandy-Walker malform...	ORPHA:401973
Castleman Disease	Weight loss	ORPHA:160
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Lumbar hyperlordosis, Kyphoscoliosis, Cerebellar hypoplasia, Communicating hydr...	ORPHA:457359
Nocardiosis	Respiratory distress, Dyspnea	ORPHA:31204
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Rat-Bite Fever	Weight loss, Parotitis	ORPHA:31205
Immunodeficiency 31C	Hepatomegaly, Weight loss, Splenomegaly	OMIM:614162
Acute Adrenal Insufficiency	Weight loss, Failure to thrive	ORPHA:95409
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity	OMIM:619321
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea	ORPHA:141127
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Pmm2-Cdg	Cerebellar vermis hypoplasia, Hepatic fibrosis, Cataract, Elevated circulating hepatic transamina...	ORPHA:79318
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy	ORPHA:447760
Behçet Disease	Cataract, Splenomegaly, Orchitis, Keratoconjunctivitis sicca, Pancreatitis, Weight loss	ORPHA:117
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Monosomy 22Q13.3	Obesity	ORPHA:48652
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Obesity, Small ...	OMIM:613406
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Oligohydramnios, Scoliosis, Kyphosis	OMIM:619194
Autosomal Recessive Robinow Syndrome	Umbilical hernia, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:1507
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress	OMIM:306955
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Respiratory distress, Long eyelashes, Thick e...	ORPHA:508488
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Scoliosis, Kyphosis, Sacral d...	ORPHA:268261
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre...	OMIM:259770
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Premature graying of...	OMIM:256040
Occipital Horn Syndrome	Platyspondyly, Hepatitis, Cholestasis, Jaundice, Scoliosis, Kyphosis	ORPHA:198
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Conjunctival telangiectasia, Cir...	OMIM:187300
Duane Retraction Syndrome	Camptodactyly, Patchy hypopigmentation of hair, Skeletal muscle atrophy, Low posterior hairline	ORPHA:233
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K...	OMIM:143095
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele, Ky...	ORPHA:1393
Williams Syndrome	Cholelithiasis, Failure to thrive in infancy, Obesity, Cryptorchidism, Polycystic ovaries	ORPHA:904
Riddle Syndrome	Weight loss	ORPHA:420741
X-Linked Intellectual Disability, Snyder Type	Cerebral edema, Kyphosis, Kyphoscoliosis	ORPHA:3063
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Skeletal muscle atrophy	ORPHA:89842
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
Frank-Ter Haar Syndrome	Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Facial palsy, Scoliosis, Kyphosis	ORPHA:2658
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Decreased testicular size, Tall stature, Weight loss, Testicular adrenal rest ...	ORPHA:90794
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Kyphoscoliosis, Cerebellar hypoplasia, Scoliosis, Patent ductus arteriosus	OMIM:300967
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Weight loss	ORPHA:60025
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Patent ductus arteriosus, Pallor, Cyanosis	ORPHA:99125
Chromosome 1P36 Deletion Syndrome, Distal	Obesity, Cryptorchidism	OMIM:607872
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:614557
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Low anterior hairline	ORPHA:79500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Kyphosis, Sacral dimple	OMIM:300960
Sotos Syndrome	Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Umbilical hernia, ...	ORPHA:821
Multiple Osteochondromas	Abnormal cartilage morphology	ORPHA:321
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Cdags Syndrome	Kyphosis	OMIM:603116
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Cornelia De Lange Syndrome	Hypoplastic nipples, Failure to thrive, Cryptorchidism, Truncal obesity	ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Obesity, Cryptorchidism	OMIM:309580
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Splenomegaly, Weight loss, Hepatomegaly, Abnormal salivary gland morpho...	OMIM:181000
Leptospirosis	Respiratory distress, Rhabdomyolysis	ORPHA:509
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Skeletal muscle atrophy, Premature graying of hair, Abnormal hair ...	ORPHA:79474
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Truncal obesity	OMIM:612474
Immunodeficiency 82 With Systemic Inflammation	Hepatitis, Splenomegaly, Cholesteatoma, B-cell lymphoma, Weight loss	OMIM:619381
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Postinfectious Vasculitis	Weight loss, Orchitis	ORPHA:48435
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Trichiasis, Nail dystrophy	ORPHA:95455
Tick-Borne Encephalitis	Facial palsy, Skeletal muscle atrophy	ORPHA:297
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Enlargement of parotid gland, Splenomega...	ORPHA:50918
African Trypanosomiasis	Keratitis, Hepatosplenomegaly, Splenomegaly, Jaundice, Weight loss, Abnormal prolactin level, Hep...	ORPHA:3385
Coffin-Siris Syndrome 1	Kyphosis, Umbilical hernia, Intrauterine growth retardation, Dandy-Walker malformation, Spina bif...	OMIM:135900
Ramon Syndrome	Optic disc pallor, Scoliosis, Kyphosis	OMIM:266270
Occipital Horn Syndrome	Platyspondyly, Kyphosis, Orthostatic hypotension	OMIM:304150
Leprosy	Alopecia, Skeletal muscle atrophy, Testicular mass, Sparse body hair, Foot dorsiflexor weakness, ...	ORPHA:548
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Posterior synechiae of the anterior chamber, Iris nevus, Weight loss, Anterior chamber ...	ORPHA:91500
Monosomy 13Q14	Cataract, Iris coloboma, Retinoblastoma	ORPHA:1587
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Cryptorchidism, Low posterior hairline, Camptodactyly, Flexion contracture	OMIM:309590
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy, Synophrys	ORPHA:536545
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Camurati-Engelmann Disease	Skeletal muscle atrophy	OMIM:131300
Pierson Syndrome	Skeletal muscle atrophy, Death in childhood	OMIM:609049
Williams-Beuren Syndrome	Failure to thrive in infancy, Obesity	OMIM:194050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Cerebellar hyp...	ORPHA:2273
Ulbright-Hodes Syndrome	Respiratory distress, Cryptorchidism	ORPHA:3404
Primrose Syndrome	Posterior polar cataract, Ventriculomegaly, Neurodegeneration, Delayed puberty, Short stature	OMIM:259050
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pancreatic calcification, Myocardial calcification	ORPHA:51608
Chronic Graft Versus Host Disease	Recurrent corneal erosions, Keratoconjunctivitis sicca, Weight loss, Elevated circulating hepatic...	ORPHA:99921
Plague	Respiratory distress	ORPHA:707
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Acromegaly	Palpebral edema, Joint swelling, Spinal canal stenosis, Kyphosis	ORPHA:963
Coffin-Lowry Syndrome	Ventriculomegaly, Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Somatomammotropinoma	Palpebral edema, Joint swelling, Spinal canal stenosis, Kyphosis	ORPHA:314769
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Corneal ulceration, Corneal opacity	ORPHA:740
Choreoacanthocytosis	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Weight loss, Elevate...	ORPHA:2388
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Ventriculomegaly, Scoliosis, Kyphosis	OMIM:309000
Leprechaunism	Facial hypertrichosis, Enlarged ovaries, Skeletal muscle atrophy, Hypertrichosis	ORPHA:508
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Short neck, Hyperlordosis, Agenesis of cerebe...	OMIM:113620
Systemic Lupus Erythematosus	Weight loss	ORPHA:536
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Viss Syndrome	Umbilical hernia, Hypereosinophilia, Butterfly vertebrae, Patent ductus arteriosus, Polyhydramnio...	OMIM:619472
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures	ORPHA:99646
Pallister-Killian Syndrome	Obesity, Cryptorchidism, Supernumerary nipple	OMIM:601803
Wrinkly Skin Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Umbilical hernia	OMIM:278250
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Pachygyria, Intrauterine growth retardation, Anterior concavity of ...	OMIM:216340
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:64
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Calcification of cartilage, Progressive calcification of costochondral cartilage	OMIM:271665
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Cryptorchidism	ORPHA:284339

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rb1.

No publications found that use IMPC mice or data for Rb1.

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MGI Allele	Allele Type	Produced
Rb1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rb1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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