Gene Summary

Name:
coiled-coil domain containing 92
Synonyms:
D5Bwg0834e

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating serum albumin level Ccdc92tm1a(KOMP)Mbp HOM Early adult 9.86×10-05
decreased brain weight Ccdc92tm1b(KOMP)Mbp HOM Early adult 2.04×10-06
increased blood urea nitrogen level Ccdc92tm1a(KOMP)Mbp HOM Early adult 5.03×10-09
abnormal auditory brainstem response Ccdc92tm1b(KOMP)Mbp HOM   Early adult 1.54×10-05
increased bone mineral density Ccdc92tm1a(KOMP)Mbp HOM Early adult 7.89×10-05
preweaning lethality, incomplete penetrance Ccdc92tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal heart morphology Ccdc92tm1a(KOMP)Mbp HOM Early adult 0.00
enlarged heart Ccdc92tm1a(KOMP)Mbp HOM Early adult 0.00
decreased grip strength Ccdc92tm1b(KOMP)Mbp HOM Early adult 3.25×10-05
decreased circulating cholesterol level Ccdc92tm1b(KOMP)Mbp HOM   Early adult 1.14×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 25% (1 of 4)
Cerebellum  Section images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 50% (2 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Kidney  Section images heterozygote 50% (2 of 4)
Lung  Section images heterozygote 25% (1 of 4)
Midbrain  Section images heterozygote 50% (2 of 4)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Pancreas  Section images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Section images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Skin  Section images heterozygote 25% (1 of 4)
Spinal cord  Section images heterozygote 50% (2 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thymus  Section images heterozygote 25% (1 of 4)
Tongue  Section images heterozygote 50% (2 of 4)
Trachea  Section images heterozygote 25% (1 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Section images heterozygote 50% (2 of 4)
Uterus  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Section images heterozygote 25% (1 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 75% (3 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

86 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Ccdc92 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccdc92 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypercholesterolemia, Hypocalcemia... OMIM:612526
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypermethionin... OMIM:613752
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Hypertrigl... ORPHA:280365
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hepatomegaly OMIM:617872
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Abnormal circulating lipid concentration, Loss of trun... OMIM:608709
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... ORPHA:2298
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis, Lipodystrophy OMIM:246650
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Hepatic fibro... OMIM:619858
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Hyper... ORPHA:363400
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplenomegaly,... ORPHA:210110
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:231111
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M... OMIM:604367
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Blepharitis, Decreased LDL cholesterol ... OMIM:616834
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper... OMIM:151660
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Motor stereotypy, Hy... OMIM:610883
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Elevated circulating hepatic transamin... OMIM:269700
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Precocious... ORPHA:528
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal adipose tissue morphology, Part... ORPHA:79324
Diarrhea 13
Hypoalbuminemia OMIM:620357
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... OMIM:144300
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hepatic steatosis, Decreased HDL cholesterol concentration, Increased LDL c... OMIM:615703
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, A... OMIM:266510
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Recurrent fractures OMIM:611490
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Abnormality of hair pigm... OMIM:618156
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... OMIM:620632
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... ORPHA:2457
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase con... ORPHA:96180
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Increased bone mineral den... OMIM:259700
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Hepatomegaly, Splenomegaly ORPHA:37748
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Hepatomegaly OMIM:618805
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c... ORPHA:14
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Elevate... OMIM:300280
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Anemi... OMIM:606069
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... ORPHA:1782
Immunodeficiency 27A
Hypoalbuminemia, Salmonella osteomyelitis, Hepatosplenomegaly, Splenomegaly OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Hyper... OMIM:239000
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Failure to ... ORPHA:71
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating... OMIM:616050
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Panniculitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Increas... OMIM:618398
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis, Recurrent fractures ORPHA:251004
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Osteoporosis, Increased circulating iron concentration, Splenomegal... OMIM:235200
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Orthostatic Hypotension 1
Joint hypermobility, Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydrox... OMIM:223360
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Camptodactyly, Hypoalbuminemia, Elevated ... OMIM:608104
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Albers-Schönberg Osteopetrosis
Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu... ORPHA:53
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... OMIM:608612
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Sparse eyebrow, Hepatomegaly, Brittle hair OMIM:618810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Increased circulating cortisol level, Macronodular adre... ORPHA:189427
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:267700
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Increased serum pyruvate, Stereotypical hand wr... ORPHA:778
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Recurrent pneumonia, Hypogonadism OMIM:614962
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Cardi... OMIM:252920
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Loss of subcutaneous adipose ti... OMIM:248370
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Flexion contracture, Abnormal cardiomyocyte morphology, Hypoalb... ORPHA:367
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Distal arthrogr... ORPHA:42
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Atypical Werner Syndrome
Premature graying of hair, Lipoatrophy, Hypertriglyceridemia, Delayed puberty, White forelock, Hy... ORPHA:79474
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circ... ORPHA:90363
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:615085
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration OMIM:154230
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Dubowitz Syndrome
Aplastic anemia, Inguinal hernia, Hyperactivity, Sparse scalp hair, Eczematoid dermatitis, Sparse... OMIM:223370
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Diastrophic Dysplasia
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... ORPHA:93284
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Synovitis, Flexion contracture, Splenomegaly, Osteo... ORPHA:77297
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... OMIM:614856
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Wolcott-Rallison Syndrome
Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle, Hy... ORPHA:1667
Leishmaniasis
Hypoalbuminemia, Hepatomegaly, Splenomegaly ORPHA:507
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:308240
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Immunodeficiency 32B
Hypoalbuminemia, Hepatomegaly, Splenomegaly OMIM:226990
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Abnormal heart valve morphology, Mitral valve calci... ORPHA:77261
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hy... ORPHA:86816
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis OMIM:616943
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bones, Card... OMIM:253250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypoalbuminemia OMIM:617021
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Pericardial effusion, Hyperammonemia, Hypoalbuminemia ORPHA:292
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Increased bone mineral density, Aortic valve stenosis, Coarse metaphyseal trabecul... ORPHA:2780
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Hypocalcemia, ... OMIM:259720
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... OMIM:603553
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Arthritis, Cardiomyopathy, Osteoporosis, Joint sti... ORPHA:465508
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Gait ataxia, Dysphagia, Sparse hair, Recurrent ... OMIM:606721
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612840
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog... ORPHA:85443
Gaucher Disease
Osteopenia, Decreased HDL cholesterol concentration, Increased circulating ferritin concentration... ORPHA:355
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia OMIM:613070
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hepatomegaly, Foot joint contracture ORPHA:90321
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Decreased skull ossification, Hypertrophic cardiomyopathy, Multiple prenatal fracture... OMIM:616897
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Osteoporosis, Pericardial effusion, Pericarditis, Hepatosplenomegaly, Left ventricu... OMIM:619487
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hypermobility, Hypoalb... OMIM:617093
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... OMIM:112250
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture, Splenomegaly, Hy... OMIM:617303
Pycnodysostosis
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... ORPHA:763
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon... OMIM:127000
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Limited knee flexion/extension, Elevated circulating creatine kinase conc... ORPHA:268
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects OMIM:615508
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatomegaly OMIM:602579
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Abnormal pericardium morphology, Constrictive pericarditis ORPHA:67
Tangier Disease
Hypertriglyceridemia, Nail dystrophy, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholester... ORPHA:31150
Poems Syndrome
Hepatomegaly, Visceromegaly, Sclerosis of hand bone, Pericardial effusion, Sclerosis of foot bone... ORPHA:2905
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Hepatomegaly OMIM:226300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Elevated circulating creatinine concentration, Increased blood urea nitroge... ORPHA:49041
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Hepatomegaly, Elbow flexion contr... OMIM:608836
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypoalbuminemia, Increased circulating ferritin... ORPHA:540
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Septic ... ORPHA:36234
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Nail dystrophy, Decreased serum leptin, Sparse scalp hair, Sparse eyelashes, Failure... OMIM:614008
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Seckel Syndrome 10
Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevat... OMIM:617253
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp... ORPHA:247353
Desmosterolosis
Elevated circulating desmosterol concentration, Abnormal circulating cholesterol concentration, T... OMIM:602398
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Hepatoportal Sclerosis
Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia ORPHA:64743
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Recurrent otitis media, Hyperactivity, Eczema... OMIM:270400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost... OMIM:618476
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased serum zinc, Decreased circulating iron c... ORPHA:89842
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... OMIM:618183
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Anomalous pulmonary venous return, Splenomegaly ORPHA:35107
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Camptodactyly, Coronal craniosynostosis, Pericardial effusion, Hypo... OMIM:235510
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Increased bone mineral density, Abnormal heart valve morphology, Synostosis of... ORPHA:90652
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... ORPHA:228308
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Sparse eyebrow, Sparse hair, Hypocholesterolemia OMIM:244450
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... OMIM:224300
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, Hypotri... ORPHA:404454
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Erdheim-Chester Disease
Abnormal aortic valve morphology, Increased bone mineral density, Abnormal pericardium morphology... ORPHA:35687
Craniofaciofrontodigital Syndrome
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... ORPHA:363705
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating alpha-fetoprotein concentrat... OMIM:251880
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:618329
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Joint stiffness, Abnormal hea... ORPHA:505248
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypergalactosemia, Pulmonic stenosis, Increased ci... OMIM:222470
Camurati-Engelmann Disease
Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba... OMIM:131300
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis OMIM:259730
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Trichothiodystrophy
Osteopenia, Multiple joint contractures, Increased bone mineral density, Cardiomyopathy, Craniosy... ORPHA:33364
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatomegaly, Osteoporosis, Splenomegaly, Conjugated hy... ORPHA:186
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bo... OMIM:620558
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Ectopic ossifica... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Increased bone mineral density, ... ORPHA:79443
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Joint hypermobility, Patent foramen ovale, Elbow flexion contr... OMIM:245600
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia... OMIM:277900
Schwartz-Jampel Syndrome
Flexion contracture of toe, Shoulder flexion contracture, Increased bone mineral density, Wrist f... ORPHA:800
Beck-Fahrner Syndrome
Cardiomegaly, Joint hypermobility, Ventricular septal defect OMIM:618798
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Delayed epiphyseal ossification OMIM:613320
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Abnormal trabecular bone morp... OMIM:612301
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Splenomegaly, Abnor... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Hypophosphatemia, Spleno... ORPHA:667
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2658
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy ORPHA:1517
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hyperoxaluria, Primary, Type I
Pathologic fracture, Hyperoxaluria, Increased bone mineral density OMIM:259900
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Severe failure to thrive, Loss of eyelashes, Pubertal developmental failu... ORPHA:740
Primary Hyperoxaluria
Generalized osteosclerosis, Hyperoxaluria, Cardiomyopathy, Recurrent fractures ORPHA:416
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Kawasaki Disease
Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo... ORPHA:2331
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Joint hypermobility, Abnormal bone ossification, Osteopenia ORPHA:2463
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:614921
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly OMIM:617729
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Atrial septal defect, Abnormal heart morphology ORPHA:79076
Williams Syndrome
Abnormal circulating lipid concentration, Pulmonic stenosis, Joint stiffness, Mitral valve prolap... ORPHA:904
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Primary Sclerosing Cholangitis
Osteopenia, Hepatomegaly, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia ORPHA:171
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Pathologic fracture, Increased serum beta-hexosaminida... OMIM:252500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Camptodactyly, Joint contracture of the hand OMIM:251300
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Stiff neck, Ventricular septal defect OMIM:617022
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Splenomegaly, Joint hypermobility, Elevated circulating creatini... OMIM:619534
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Marburg Hemorrhagic Fever
Hypokalemia, Arthritis, Hyperamylasemia, Elevated circulating creatine kinase concentration, Peri... ORPHA:99826
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy ORPHA:158687
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Arthrogryposis multiplex congenita, Cardiomegaly, Joint hypermobility, Multiple joi... OMIM:618143
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis multiplex congenita OMIM:608013
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Reduced bone mineral density, Hepatomegaly, Craniofacial hypero... ORPHA:581
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210