Not currently registered for phenotyping at IMPC

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

Gene Summary

RB transcriptional corepressor 1
Rb,  Rb-1,  retinoblastoma 1,  pRb

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Pheochromocytoma, Neurofibromas OMIM:162240
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex cong... OMIM:611369
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Chemodectoma, Cutaneous angiolipomas, Retroperitoneal chemodectomas OMIM:118350
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Paragangliomas 5
Paraganglioma OMIM:614165
Schwannomatosis 2
Spinal cord tumor, Schwannoma OMIM:615670
Schwannomatosis 1
Spinal cord tumor, Schwannoma, Meningioma OMIM:162091
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, M... OMIM:614915
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Familial Adenomatous Polyposis 3
Breast carcinoma, Neoplasm of the skin, Meningioma, Bladder neoplasm OMIM:616415
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly ORPHA:46532
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Neoplasm, Chemodectoma, Elevated circula... OMIM:605373
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... ORPHA:251639
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... ORPHA:251636
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Cataract ORPHA:73245
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Cataract ORPHA:1397
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Paragangliomas 4
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... OMIM:115310
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:601472
Carney Complex, Type 1
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Pituitary adenoma, Schwannoma,... OMIM:160980
Medullary Thyroid Carcinoma
Neoplasm of the lung, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, E... ORPHA:1332
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Reduced vital capacity, Distal amyotrophy, Distal lower limb muscle w... OMIM:607088
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer, Neoplasm of the central nervous system OMIM:603688
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Retinitis Pigmentosa 81
Pallor OMIM:617871
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:614881
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atroph... ORPHA:178464
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Obesity, Increased waist to hip ratio OMIM:601665
Polyglucosan Body Myopathy 2
Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Paragangliomas 2
Glomus tympanicum paraganglioma, Neoplasm, Chemodectoma, Vagal paraganglioma, Glomus jugular tumor OMIM:601650
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy OMIM:615025
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Carcinoma Of Esophagus
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm ORPHA:70482
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell c... OMIM:193300
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:612335
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor OMIM:615234
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Thyroid C ce... OMIM:171400
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Pulmonary Blastoma
Weight loss, Pleuropulmonary blastoma ORPHA:64741
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma ORPHA:99976
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... OMIM:615631
Neuronopathy, Distal Hereditary Motor, Type Iic
Distal lower limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:613376
Glioma Susceptibility 3
Astrocytoma, Medulloblastoma, Glioblastoma multiforme OMIM:613029
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... OMIM:614065
Retinitis Pigmentosa 60
Pallor OMIM:613983
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Cataract OMIM:617133
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Respirat... OMIM:253300
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Respiratory insufficie... OMIM:158810
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:147630
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Weight ... ORPHA:83469
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma ORPHA:52416
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Distal amyotrophy, Lower limb muscle weakness, Hand muscle at... OMIM:607641
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Cholangiocarcinoma, Goiter, Adenomatous colonic polypos... ORPHA:733
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Bladder Cancer
Transitional cell carcinoma of the bladder OMIM:109800
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Gcgr-Related Hyperglucagonemia
Increased glucagon level, Glucagonoma, Neoplasm of the pancreas, Cholelithiasis ORPHA:438274
Undifferentiated Pleomorphic Sarcoma
Weight loss, Soft tissue sarcoma ORPHA:2023
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2 muscle fi... OMIM:254210
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased circulating cortisol leve... ORPHA:652
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Brain neoplasm, Neoplasm of the pancreas, Peripheral primitive neu... ORPHA:370348
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Adrenocortical adenoma, Zollinger-Ellison syndrome, Neoplasm of the lung, Pheochromocytoma, Neopl... ORPHA:97261
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Para... ORPHA:139411
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Left... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... OMIM:300695
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, Respiratory failure, Spi... OMIM:616081
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2... OMIM:605809
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... ORPHA:238329
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Central Precocious Puberty
Overgrowth, Hypothalamic hamartoma, Increased circulating gonadotropin level, Obesity, Increased ... ORPHA:759
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy OMIM:615043
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Primary peritoneal carcinoma, Prost... ORPHA:145
Immunodeficiency 61
Obesity, Colon cancer OMIM:300310
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Elevated circulating thyroid-stimulating hormone concentration ORPHA:171706
Neurofibromatosis, Type I
Pheochromocytoma, Astrocytoma, Plexiform neurofibroma, Meningioma, Rhabdomyosarcoma, Spinal neuro... OMIM:162200
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... ORPHA:157798
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Hemangioma, Pheochromocytoma, Neoplasm OMIM:171300
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Narcolepsy Type 1
Obesity ORPHA:2073
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Facial palsy, Reduced forced vital capacity... OMIM:255600
Optic Atrophy 9
Pallor OMIM:616289
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss, Adrenocorticotropic hormone excess, Neoplasm of the larynx ORPHA:100083
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, T... OMIM:300580
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Skeletal muscle atrophy, Calf muscle hypertrophy OMIM:615048
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Elliptocytosis 1
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Syndromic X-Linked Intellectual Disability 7
Obesity, Cryptorchidism ORPHA:85274
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... ORPHA:276621
Succinic Acidemia
Respiratory distress OMIM:600335
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Skeletal muscle atrophy, Rimmed vacuoles, Reduced vital capacity OMIM:617760
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... ORPHA:139536
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy OMIM:618683
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy OMIM:182980
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Dista... OMIM:619042
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... OMIM:610755
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary hemangioma, Renal cell... ORPHA:29072
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Neuronopathy, Distal Hereditary Motor, Type Iid
Triceps weakness, Weakness of the intrinsic hand muscles, Spinal muscular atrophy, Lower limb mus... OMIM:615575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, Respiratory dis... ORPHA:254864
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Reduced vita... OMIM:609285
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, ... ORPHA:370959
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Camptodactyly... OMIM:614399
Hyperostosis Frontalis Interna
Obesity, Increased circulating prolactin concentration OMIM:144800
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Moynahan Syndrome
Cachexia ORPHA:2574
Summitt Syndrome
Obesity OMIM:272350
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... ORPHA:352479
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Pneumonia, Hip contracture, Hamstri... ORPHA:97244
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Neoplasm, Splenomegaly, Intes... ORPHA:2930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculo... ORPHA:101150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis OMIM:617087
Multiple Endocrine Neoplasia, Type Iib
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Ganglioneuroma, Parathyroid hyp... OMIM:162300
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypertrichosis, Skeletal muscle atrophy OMIM:618244
Spinocerebellar Ataxia 48
Cachexia, Cerebellar atrophy OMIM:618093
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Respiratory insufficiency due to muscle weakness, Joint contracture o... OMIM:611067
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Partial absence of cerebellar vermis, Posterior embryotoxon, Agenesis ... OMIM:220220
Gemignani Syndrome
Abnormal testis morphology, Skeletal muscle atrophy ORPHA:2074
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Jaundice ORPHA:79238
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... ORPHA:254875
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Zollinger-Ellison syndrome, Adenoma sebaceum, Increased circulating corti... OMIM:131100
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Subepend... ORPHA:805
Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture OMIM:611105
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Neoplasm of the lung, Neoplasm ... ORPHA:653
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes ORPHA:3055
Weight loss ORPHA:3389
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Obstructive sleep apnea, Facial palsy, Generalized amyotrophy, Exertional dyspnea, Limb-girdle mu... OMIM:615156
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Retinitis Pigmentosa 70
Pallor OMIM:615922
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Cerebellar hypoplasia, Cerebral atrophy, Pancytopenia, Thromb... OMIM:613839
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... ORPHA:295
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Premature ovarian insufficiency, Cryptorchidism, Decreased te... ORPHA:261483
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:607678
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalopathy, Peri... OMIM:615889
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Cerebral atrophy, Sea-blue histiocytosis, Ventriculomegaly OMIM:230600
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Anemia, Patent ductus arteriosus, Polyhydramnios, Thrombocytopenia, Hydrop... ORPHA:2123
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Respiratory insuff... OMIM:605355
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Hand muscle weakness, Distal upper limb amyotrophy, Dist... ORPHA:101077
Medulloblastoma OMIM:155255
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Upper limb amyotrophy, Respiratory insufficiency, Calf muscle hypoplasia, Distal lower limb amyot... ORPHA:90103
Muscular Dystrophy, Congenital, Lmna-Related
Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Flexion contracture, Co... OMIM:613205
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Pituitary hypothyroidism, Gonadotropin deficiency, Obesity, Decreased response... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Pituitary hypothyroidism, Gonadotropin deficiency, Obesity, Decreased response... ORPHA:71526
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Nphp3-Related Meckel-Like Syndrome
Dandy-Walker malformation, Abnormal liver parenchyma morphology, Abnormal biliary tract morpholog... ORPHA:3032
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Neurofibromatosis Type 1
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... ORPHA:636
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Respiratory insufficiency, Distal amyotrophy OMIM:605253
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Respiratory insufficiency du... ORPHA:1143
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoul... OMIM:158900
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616040
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Coma, Drowsiness, Lethargy ORPHA:276608
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy OMIM:618184
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia, Pallor, Skin ulcer ORPHA:848
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Spastic Paraplegia With Neuropathy And Poikiloderma
Absent eyebrow, Absent eyelashes, Distal amyotrophy OMIM:182815
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Lethargy OMIM:610498
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency OMIM:612999
Gaucher Disease Type 2
Flexion contracture, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Cachexia, Cerebellar atrophy ORPHA:85278
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:302801
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Jaundice OMIM:603552
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy OMIM:158580
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Pituitary ... ORPHA:97289
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Inferior vermis hypoplasia, Retrocer... OMIM:614831
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia, Intention tremor OMIM:130950
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Respiratory insufficiency due to muscle weakness, Facial palsy, Distal amyot... OMIM:254300
Papular Xanthoma
Histiocytosis ORPHA:158008
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
3-Methylglutaconic Aciduria Type 4
Dysgenesis of the cerebellar vermis, Failure to thrive, Decreased liver function, Iris hypopigmen... ORPHA:67048
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Retinitis Pigmentosa 73
Pallor OMIM:616544
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Ataxia, Lethargy ORPHA:71277
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... ORPHA:98913
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Myopathy, Myofibrillar, 6
Respiratory insufficiency, Facial palsy, Generalized amyotrophy, Knee flexion contracture, EMG: m... OMIM:612954
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Death in childhood OMIM:615597
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Dermatitis, Atopic
Cataract, Facial erythema, Dry skin, Pallor, Keratoconus, Conjunctivitis OMIM:603165
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Spinal muscular atrophy OMIM:271150
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal lower motor ne... ORPHA:93941
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Obesity, Decreased response to growth hormone stimulation test, Adrenoco... OMIM:609734
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Po... ORPHA:824
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy OMIM:182920
Transaldolase Deficiency
Biventricular hypertrophy, Edema, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial septal defect, Th... ORPHA:101028
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... OMIM:245590
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Hydrops fetalis OMIM:236750
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Respiratory insufficiency due... ORPHA:98902
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Optic atrophy, Severe postnatal growth retardation, Dilated fourth ven... ORPHA:3078
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Optic atrophy, Cerebral atrophy OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Distal amyotrophy OMIM:607731
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Tremor, Inability to walk, Generalized dystonia, Oculog... ORPHA:255
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Hb Bart'S Hydrops Fetalis
Pallor, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Cerebral white matter hypoplasia, Intrauterine growth retardation, Dilated fo... ORPHA:572798
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenomegaly, Abnormal mac... ORPHA:2585
17Q11 Microdeletion Syndrome
Plexiform neurofibroma, Optic nerve glioma, Leukemia, Brain neoplasm, Cerebellar glioma, Brainste... ORPHA:97685
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Skeletal muscle atrophy, Limb muscle weakness OMIM:613287
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Small for gestational age OMIM:212540
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Cerebellar vermis atrophy, Diffuse c... ORPHA:1170
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Respiratory insufficiency, Weakness o... OMIM:160565
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Pal... ORPHA:1959
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... ORPHA:596
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial pal... OMIM:301830
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cy... ORPHA:892
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract, Cerebellar hypoplasia OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:613313
Nemaline Myopathy 10
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogr... OMIM:616165
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hirsutism, Flexion contracture OMIM:618006
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Galactose Mutarotase Deficiency
Hepatomegaly, Failure to thrive, Decreased liver function, Cataract, Cholestasis ORPHA:570422
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ab... OMIM:615960
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Facial hemangioma, Cataract, Iris coloboma ORPHA:171860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Muscular dystrophy, Muscle fib... OMIM:253700
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Premature ovarian insufficiency OMIM:618124
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Ollier Disease
Abnormal cartilage morphology, Anemia, Multiple enchondromatosis ORPHA:296
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Hypertrichosis, Generalized amyotrophy, Respiratory distress, Flexion cont... OMIM:271225
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia,... ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Dysplastic corpus callosum, Intrauterine growth retardation, Dilated f... ORPHA:357058
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy ORPHA:496756
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy OMIM:312170
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... OMIM:619334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Muscular dystrophy, Scapular winging, Calf muscle hypertrophy OMIM:601287
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... ORPHA:523
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... ORPHA:99889
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:605726
Renpenning Syndrome
Cachexia, Decreased testicular size, Cataract, Iris coloboma ORPHA:3242
Anaplastic Thyroid Carcinoma
Stridor, Abnormal skeletal muscle morphology, Goiter, Nodular goiter, Cough, Upper airway obstruc... ORPHA:142
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy OMIM:256720
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Bardet-Biedl Syndrome 4
Obesity, Cryptorchidism OMIM:615982
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue