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
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma OMIM:162240
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Cutaneous angiolipomas, Chemodectoma, Retroperitoneal chemodectomas OMIM:118350
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
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
Paragangliomas 5
Paraganglioma OMIM:614165
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... OMIM:614915
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... ORPHA:90039
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Miyoshi Myopathy
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... ORPHA:45448
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Paragangliomas 3
Glomus jugular tumor, Neoplasm, Extraadrenal pheochromocytoma, Elevated circulating catecholamine... OMIM:605373
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:600794
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cerebellar vermis hypoplasia, Cataract, Dandy-Walker malformation ORPHA:73245
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... ORPHA:482601
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Cataract ORPHA:1397
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:601472
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... ORPHA:1332
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Reduced vital capacity, Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, D... OMIM:607088
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Retinitis Pigmentosa 42
Pallor OMIM:612943
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Myxoid s... OMIM:160980
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Retinitis Pigmentosa 81
Pallor OMIM:617871
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Diencephalic Syndrome
Cachexia, Neoplasm of the nervous system, Decreased body weight ORPHA:1672
Carcinoma Of Esophagus
Esophageal neoplasm, Weight loss, Obesity, Barrett esophagus ORPHA:70482
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Paragangliomas 2
Glomus jugular tumor, Neoplasm, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma OMIM:601650
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
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
Anemia, Transient erythroblastopenia OMIM:227050
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... OMIM:612335
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Anemia OMIM:615234
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Bladder Cancer
Bladder neoplasm, Transitional cell carcinoma of the bladder OMIM:109800
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616280
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Adenocarcinoma Of The Esophagus
Obesity, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Death in childhood, Respiratory insufficiency, Spinal mu... OMIM:253300
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Cerebellar atrophy OMIM:617133
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Poikilocytosis, Reti... OMIM:615631
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Retinitis Pigmentosa 60
Pallor OMIM:613983
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Confusion, Paroxysmal lethargy, Choreoathetosis, Lethargy OMIM:606777
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Cachexia, Neo... ORPHA:83469
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy OMIM:182980
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss ORPHA:52416
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... ORPHA:2596
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Facial ... OMIM:607641
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Increased glucagon level, Glucagonoma, Neoplasm of the pancreas ORPHA:438274
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Peripheral primitive neuroectodermal neoplasm, Uterin... ORPHA:370348
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97261
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... ORPHA:86812
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal o... ORPHA:139411
Central Precocious Puberty
Hypothalamic hamartoma, Overgrowth, Increased body weight, Increased circulating gonadotropin lev... ORPHA:759
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Choreoathetosis, Lethargy, Athetosis OMIM:130950
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary arterial hyp... OMIM:619751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Type 2 muscle fiber atrophy, Limb muscle weakness, Apneic episodes precipit... OMIM:605809
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy OMIM:615043
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Pheochromocytoma
Hemangioma, Neoplasm, Pheochromocytoma OMIM:171300
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... ORPHA:70589
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Lower limb muscle weakness, Spinal muscu... OMIM:253400
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Immunodeficiency 61
Obesity, Colon cancer OMIM:300310
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Elevated circulating thyroid-stimulating hormone concentration ORPHA:171706
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Narcolepsy Type 1
Obesity ORPHA:2073
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight loss, Neoplasm of the larynx ORPHA:100083
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Optic Atrophy 9
Pallor OMIM:616289
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy OMIM:618224
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
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Pallo... ORPHA:75564
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... OMIM:620011
Syndromic X-Linked Intellectual Disability 7
Obesity, Cryptorchidism ORPHA:85274
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromo... ORPHA:276621
Elliptocytosis 1
Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly OMIM:611804
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Succinic Acidemia
Respiratory distress OMIM:600335
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity OMIM:617760
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb muscle weakness, Distal amyotrophy OMIM:610250
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... OMIM:619042
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Thenar muscle ... ORPHA:139536
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Myosclerosis, Autosomal Recessive
Facial palsy, Skeletal muscle atrophy, Achilles tendon contracture, Reduced forced vital capacity OMIM:255600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Cranial nerve compression, Paraganglioma of head and neck, Paraganglio... ORPHA:29072
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Developmental And Epileptic Encephalopathy 92
Dystonia, Lethargy OMIM:617829
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity OMIM:144800
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... OMIM:615575
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal amyotrophy, Pro... OMIM:600175
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Summitt Syndrome
Obesity OMIM:272350
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... OMIM:609285
Moynahan Syndrome
Cachexia ORPHA:2574
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Cronkhite-Canada Syndrome
Neoplasm, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Intestinal polyposis, Colon cance... ORPHA:2930
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Respiratory insufficie... OMIM:614399
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Spinocerebellar Ataxia 48
Cachexia, Cerebellar atrophy OMIM:618093
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... ORPHA:97244
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Multiple Endocrine Neoplasia, Type Iib
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Ganglioneurom... OMIM:162300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Kyphosis, Scoliosis OMIM:617087
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... ORPHA:352479
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Respiratory in... OMIM:300696
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Distal amyotrophy, Scapuloperoneal amyotr... OMIM:611067
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes ORPHA:3055
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Cataract, Weight loss, Jaundice ORPHA:79238
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Gemignani Syndrome
Skeletal muscle atrophy, Abnormal testis morphology ORPHA:2074
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture OMIM:611105
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Retinitis Pigmentosa 70
Pallor OMIM:615922
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Neuroma, Neoplasm of the liver, Parathyroid adenoma, Elevated circul... ORPHA:653
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Cryptorchidism, Weakness... ORPHA:1145
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Optic nerve hypoplasia, Occipital encephalocele, M... ORPHA:370959
Tuberculosis
Weight loss ORPHA:3389
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Distal lower limb... OMIM:613287
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Weakness of facial musculature, Respiratory insufficiency, Spinal muscular ... ORPHA:254875
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... OMIM:266200
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Increased nuchal... ORPHA:295
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Lethargy OMIM:617065
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Myopathy, Myosin Storage, Autosomal Dominant
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... OMIM:608358
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphol... ORPHA:3032
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607678
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... ORPHA:71526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Limb-girdle muscle weakness, Exertional dyspnea, Facial palsy, Generalized amyotrophy, Obstructiv... OMIM:615156
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... ORPHA:2123
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Foo... ORPHA:101077
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss ORPHA:86893
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Respiratory insufficiency, Lower ... ORPHA:90103
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Lower limb... ORPHA:1143
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Cryptorchidism, Decreased testicular size, Truncal obesity ORPHA:261483
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Oculogyric crisis, Limb dystonia, Focal dystonia, Postural tremor, Lethargy, Genera... ORPHA:101150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Muscular Dystrophy, Congenital, Lmna-Related
Congenital muscular dystrophy, Generalized amyotrophy, Flexion contracture, Respiratory insuffici... OMIM:613205
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Confusion, Dystonia, Lethargy ORPHA:71277
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Neuroblastoma, Susceptibility To, 2
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma OMIM:613013
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616040
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... OMIM:605355
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Drowsiness, Coma, Lethargy ORPHA:276608
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Neurofibromatosis Type 1
Abnormality of the endocrine system, Chronic myelogenous leukemia, Precocious puberty, Plexiform ... ORPHA:636
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Nemaline Myopathy 2
Apnea, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... OMIM:256030
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Respiratory insufficiency, Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Medulloblastoma
Medulloblastoma OMIM:155255
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shoulder girdle mus... OMIM:158900
Spastic Paraplegia 18, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Pallor, Microcytic anemia, Skin ulcer, Anemia, Thrombocytopenia ORPHA:848
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Christianson Syndrome
Cachexia, Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy ORPHA:85278
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spastic Paraplegia With Neuropathy And Poikiloderma
Absent eyebrow, Absent eyelashes, Distal amyotrophy OMIM:182815
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough ORPHA:77260
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... OMIM:614831
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Neonatal death, Lethargy OMIM:610498
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:302801
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Proximal amyotrophy, Muscular dystrophy OMIM:612999
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis OMIM:601820
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness OMIM:300816
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
N-Acetylglutamate Synthase Deficiency
Coma, Lethargy, Confusion OMIM:237310
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Papular Xanthoma
Histiocytosis ORPHA:158008
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Cerebellar hypoplasia, Pancytopenia, Thrombocytopenia... OMIM:613839
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Decreased response to g... OMIM:609734
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Dysgenesis of the cerebellar vermis, Iris hypopigmen... ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Myofibrillar Myopathy 11
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... OMIM:619178
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, EMG: myopathic abnorma... ORPHA:98913
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Biventricular hypertrophy, ... ORPHA:101028
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis OMIM:603165
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Abnormality of mesen... ORPHA:93941
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Respiratory insufficiency, Muscular dystrophy, Myofibrillar myopath... OMIM:612954
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepatosplenomegaly, ... ORPHA:824
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Dystonia, Lethargy OMIM:312170
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Spheroid Body
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar ... OMIM:617751
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... OMIM:300908
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Premature graying of hair... OMIM:619903
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Myasthenic Syndrome, Congenital, 10
Reduced vital capacity, Weakness of facial musculature, Distal amyotrophy, Respiratory insufficie... OMIM:254300
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Dista... OMIM:618184
Hb Bart'S Hydrops Fetalis
Pallor, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy OMIM:246900
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology ORPHA:50251
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fib... ORPHA:596
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
17Q11 Microdeletion Syndrome
Optic nerve glioma, Gastrointestinal stroma tumor, Elevated circulating parathyroid hormone level... ORPHA:97685
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Choreoathetosis, Dystonia, Lethargy OMIM:233910
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Small for gestational age OMIM:212540
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... ORPHA:98870
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... OMIM:160565
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Retinitis Pigmentosa 27
Pallor OMIM:613750
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Severe X-Linked Intellectual Disability, Gustavson Type
Brain atrophy, Severe postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypoplas... ORPHA:3078
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... ORPHA:1959
Glycine Encephalopathy
Lethargy OMIM:605899
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Papil... ORPHA:892
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... OMIM:613313
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract, Cerebellar hypoplasia OMIM:613730
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss ORPHA:98293
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Fl... OMIM:301830
Galactose Mutarotase Deficiency
Failure to thrive, Decreased liver function, Hepatomegaly, Cholestasis, Cataract ORPHA:570422
Nemaline Myopathy 10
Flexion contracture, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy, R... OMIM:616165
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Iris coloboma, Facial hemangioma, Cataract ORPHA:171860
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Cerebellar hypoplasia, Elevated circulating alanine aminotransferase ... OMIM:618805
Ollier Disease
Anemia, Abnormal cartilage morphology, Multiple enchondromatosis ORPHA:296
Leishmaniasis
Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Skin ulcer, Anemi... ORPHA:507
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Hypertrichosis, Acute infantile spinal muscular atrophy, Flexion contractur... OMIM:271225
Renpenning Syndrome
Cachexia, Iris coloboma, Cataract, Decreased testicular size ORPHA:3242
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypertrichosis, Skeletal muscle atrophy OMIM:618244
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Short stature, Dilated fourth ventricle, Diffuse cerebral atrophy, Cer... ORPHA:1170
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Cerebellar atrophy OMIM:618186
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Bardet-Biedl Syndrome 4
Obesity, Cryptorchidism OMIM:615982
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of the cerebe... ORPHA:2585
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Spinal muscular atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:605726
Anaplastic Thyroid Carcinoma
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Nodul... ORPHA:142
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Di... ORPHA:357058
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Proximal muscle weakness in lower limbs, Lower limb amyotrophy, Lower limb muscl... OMIM:615290
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy OMIM:615889
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Scapular winging, Proximal amyotrophy OMIM:601287
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Cerebellar atrophy OMIM:614482
Meckel Syndrome, Type 10
Dilated fourth ventricle, Cerebellar hypoplasia, Malformation of the hepatic ductal plate, Anence... OMIM:614175
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diamond-Blackfan Anemia 9
Anemia, Webbed neck OMIM:613308
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Myopathy, Myosin Storage, Autosomal Recessive
Calf muscle hypertrophy, Respiratory insufficiency, EMG: myopathic abnormalities, Limb-girdle mus... OMIM:255160
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
Retinitis Pigmentosa And Erythrocytic Microcytosis