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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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