Gene Summary

Name:
nuclear receptor subfamily 1, group D, member 1
Synonyms:
A530070C09Rik,  REV-ERBalpha,  rev-erbA(alpha)

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
unresponsive to tactile stimuli Nr1d1tm1.1(KOMP)Vlcg HET E18.5 0.00
abnormal eye anterior chamber depth Nr1d1tm1(KOMP)Vlcg HOM Early adult 5.37×10-05
abnormal eye morphology Nr1d1tm1(KOMP)Vlcg HOM Early adult 0.00
decreased hemoglobin content Nr1d1Nr1d1 HET Early adult 1.84×10-05
decreased NK cell number Nr1d1tm1(KOMP)Vlcg HOM   Early adult 1.60×10-06
preweaning lethality, incomplete penetrance Nr1d1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased cardiac output Nr1d1tm1(KOMP)Vlcg HOM   Early adult 5.22×10-10
increased mean corpuscular volume Nr1d1Nr1d1 HET Early adult 4.18×10-06
decreased total body fat amount Nr1d1tm1(KOMP)Vlcg HOM Early adult 1.50×10-09
increased bone mineral content Nr1d1tm1(KOMP)Vlcg HOM Early adult 5.87×10-07
unresponsive to tactile stimuli Nr1d1tm1.1(KOMP)Vlcg HOM E18.5 0.00
increased circulating iron level Nr1d1Nr1d1 HOM   Early adult 4.83×10-09
decreased vertical activity Nr1d1tm1(KOMP)Vlcg HOM   Early adult 4.50×10-05
decreased thigmotaxis Nr1d1tm1(KOMP)Vlcg HOM Early adult 1.32×10-06
hyperactivity Nr1d1tm1(KOMP)Vlcg HOM   Early adult 5.43×10-05
enlarged heart Nr1d1tm1(KOMP)Vlcg HOM Early adult 0.00
decreased total retina thickness Nr1d1tm1(KOMP)Vlcg HOM Early adult 2.62×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (7 of 7)
Aorta  Wholemount images heterozygote 28.57% (2 of 7)
Bone  Wholemount images heterozygote 100% (7 of 7)
Brain  Wholemount images heterozygote 100% (7 of 7)
Brainstem  Wholemount images heterozygote 100% (7 of 7)
Brown adipose tissue  Wholemount images heterozygote 28.57% (2 of 7)
Cartilage tissue  Wholemount images heterozygote 100% (7 of 7)
Cerebellum  Wholemount images heterozygote 100% (7 of 7)
Cerebral cortex  Wholemount images heterozygote 100% (7 of 7)
Esophagus  Wholemount images heterozygote 100% (7 of 7)
Gall bladder  Wholemount images heterozygote 28.57% (2 of 7)
Heart  Wholemount images heterozygote 100% (7 of 7)
Hippocampus  Wholemount images heterozygote 100% (7 of 7)
Hypothalamus  Wholemount images heterozygote 100% (7 of 7)
Kidney  Wholemount images heterozygote 100% (7 of 7)
Large intestine  Wholemount images heterozygote 28.57% (2 of 7)
Liver  Wholemount images heterozygote 100% (7 of 7)
Lower urinary tract  Wholemount images heterozygote 100% (7 of 7)
Mesenteric lymph node  Wholemount images heterozygote 0.0% (0 of 5)
Olfactory lobe  Wholemount images heterozygote 100% (7 of 7)
Oral epithelium  Wholemount images heterozygote 28.57% (2 of 7)
Ovary  Wholemount images heterozygote 71.43% (5 of 7)
Oviduct  Wholemount images heterozygote 14.29% (1 of 7)
Pancreas  Wholemount images heterozygote 0.0% (0 of 7)
Peripheral nervous system  Wholemount images heterozygote 28.57% (2 of 7)
Peyer's patch  Wholemount images heterozygote 28.57% (2 of 7)
Pituitary gland  Wholemount images heterozygote 28.57% (2 of 7)
Prostate gland  Wholemount images heterozygote 14.29% (1 of 7)
Skeletal muscle  Wholemount images heterozygote 100% (7 of 7)
Skin  Wholemount images heterozygote 85.71% (6 of 7)
Small intestine  Wholemount images heterozygote 100% (7 of 7)
Spinal cord  Wholemount images heterozygote 100% (7 of 7)
Stomach  Wholemount images heterozygote 28.57% (2 of 7)
Striatum  Wholemount images heterozygote 100% (7 of 7)
Testis  Wholemount images heterozygote 28.57% (2 of 7)
Thymus  Wholemount images heterozygote 28.57% (2 of 7)
Thyroid gland  Wholemount images heterozygote 28.57% (2 of 7)
Trachea  Wholemount images heterozygote 100% (7 of 7)
Trigeminal V nerve  Wholemount images heterozygote 40% (2 of 5)
Uterus  Wholemount images heterozygote 14.29% (1 of 7)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 7)
White adipose tissue  Wholemount images heterozygote 28.57% (2 of 7)
Cecum N/A heterozygote 40% (2 of 5)
Eye N/A heterozygote Not available
Lung N/A heterozygote 100% (7 of 7)
Lymph node N/A heterozygote 28.57% (2 of 7)
Mammary gland N/A heterozygote 0.0% (0 of 7)
Parathyroid gland N/A heterozygote 0.0% (0 of 7)
Spleen N/A heterozygote 0.0% (0 of 7)
Urinary bladder N/A heterozygote 0.0% (0 of 5)
Vascular system N/A heterozygote 0.0% (0 of 7)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 Wholemount

35 Images

Embryo LacZ

LacZ images wholemount

4 Images

Histopathology

Images

7 Images

Human diseases caused by Nr1d1 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 Nr1d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Arthrogryposis multiplex congenita, Cerebellar hypoplasia OMIM:616531
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Muscular dystrophy OMIM:615041
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia OMIM:604213
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Macroglossia, Facial palsy, Congenital muscular dystrophy, Muscular dystrop... OMIM:613155
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Morm Syndrome
Retinal dystrophy, Aggressive behavior, Hyperactivity, Cataract, Retinal atrophy ORPHA:75858
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Ethanolaminosis
Cardiomegaly OMIM:227150
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Hypercholesterolemia, Elevate... OMIM:619662
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Muscular dystrophy, Hydrocephalus,... OMIM:615181
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Autoinflammation With Infantile Enterocolitis
Thrombocytopenia, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Diffuse ... OMIM:616050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Left ve... OMIM:613153
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Hypera... DECIPHER:39
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:101070
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... OMIM:261600
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... OMIM:619065
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Dysmetria, Vacuolated lymphocy... OMIM:256550
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar cyst, Cerebellar dysplasia OMIM:615960
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Hyper... OMIM:248800
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Skeletal muscle hypertrophy, Partial absence of cerebellar vermis, Cerebellar dy... OMIM:613150
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Refsum Disease, Classic
Retinal degeneration, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Congest... OMIM:266500
Crome Syndrome
Cerebellar dysplasia OMIM:218900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Primary Erythromelalgia
Hypothermia ORPHA:90026
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Optic atrophy OMIM:300983
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Corneal dys... OMIM:253250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Dense calvaria, Splenomegaly, Hyperactivity, Asy... OMIM:252920
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Cerebellar atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Generaliz... ORPHA:352447
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Mitral regurgi... ORPHA:3092
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG: myopathic abnorma... ORPHA:502423
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Cerebellar atrophy, Upper limb muscle weakness, Lower limb muscle weakn... ORPHA:99013
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Systolic he... ORPHA:2041
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Optic nerve hypoplasia, Osteopenia, Ataxia, Reduced natural killer cell count,... ORPHA:221139
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Ocular albinism, Enlarged platelet dense granules, Absent platelet den... OMIM:608233
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy OMIM:617622
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Optic atrophy, Cardiomegaly, Cardiomyopathy, Ataxia, Congestive heart failure, ... OMIM:619259
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Ragged-red muscle fibers, Skeletal muscle atrophy, Limb... OMIM:157640
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, ... ORPHA:860
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Abnormal cerebellar cortex morphology, Increased variability in muscle ... ORPHA:70595
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
X-Linked Lymphoproliferative Disease
Myocarditis, B lymphocytopenia, Increased B cell count, Increased T cell count, Splenomegaly, Abs... ORPHA:2442
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Abnormality of skeletal muscle fiber size, Myopathy, Dysmenorrhea, Skeletal... ORPHA:79083
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Generalized amyotrophy, EMG: myo... ORPHA:52430
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Osteopenia, Congestive heart fa... OMIM:269920
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based... ORPHA:411515
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Pericardial effusion, Atrioventricular block,... OMIM:115197
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, Hip contracture, Aggressive behavior, Knee flexion contracture, Osteopeni... OMIM:616809
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Attrv30M Amyloidosis
Vitreous floaters, Atrioventricular block, Cardiomegaly, Cardiomyopathy, Arrhythmia ORPHA:85447
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Abnormality of the liver, Hyperchole... OMIM:210250
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... OMIM:258450
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dystonia, Optic atrophy, Paroxysmal bursts of laughter, Retinal dege... ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Lethargy OMIM:619064
Hyperlysinemia, Type I
Hyperactivity, Anemia, Ectopia lentis OMIM:238700
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... ORPHA:79237
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Astigmatism OMIM:617713
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose t... ORPHA:363400
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Steppage gait, Cardiomegaly, Tricuspid regurgitation... ORPHA:324410
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Elevated hep... ORPHA:263501
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Congestive h... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly, Lethargy OMIM:600649
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology OMIM:300831
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Congenital diaphragmatic hernia, Hyperactivity, Abnormal cardiac... OMIM:614294
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Arthrogryposis multiplex congenita, Joint contracture of the hand, Ing... ORPHA:352490
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Myopathy, Abnormality of skeletal muscle fiber size, Dysmenorrhea, Skeletal... ORPHA:2348
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Typical Nemaline Myopathy
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... ORPHA:171436
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744
Laron Syndrome
Hypercholesterolemia ORPHA:633
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Cerebellar atrophy, Hypergonadotropic hypogonadism OMIM:607426
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Female infertilit... OMIM:619518
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Elevated jugular venous pressure, Osteoporosis, Apathy, Cardiomyopathy, Cardiomegal... ORPHA:465508
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Reduced bone mineral density, Splenomegaly, Hypersexuality, Opacification of ... ORPHA:581
Gand Syndrome