Gene Summary

Name:
ceruloplasmin
Synonyms:
D3Ertd555e

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
decreased mean corpuscular volume Cptm1b(KOMP)Wtsi HOM Early adult 0.00
hypoalgesia Cptm1b(KOMP)Wtsi HOM   Early adult 6.08×10-05 *
increased heart weight Cptm1b(KOMP)Wtsi HOM Early adult 3.37×10-05
decreased mean corpuscular hemoglobin Cptm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating iron level Cptm1b(KOMP)Wtsi HOM Early adult 1.16×10-08
decreased mean corpuscular hemoglobin concentration Cptm1b(KOMP)Wtsi HOM Early adult 4.06×10-08
abnormal sleep behavior Cptm1b(KOMP)Wtsi HOM Early adult 2.27×10-05
decreased hemoglobin content Cptm1b(KOMP)Wtsi HOM Early adult 1.86×10-10
abnormal sensory capabilities/reflexes/nociception Cptm1b(KOMP)Wtsi HOM Early adult 0.000711 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

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 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous

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

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Sleep Wake

Wake state (bmp file)

15 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

1 Images

Electroretinography

Cone waveform (pdf format)

1 Images

Electroretinography 2

Rod and cone PDF

1 Images

Human diseases caused by Cp mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... ORPHA:446
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas... OMIM:613313
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... ORPHA:75563
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated circulati... ORPHA:79230
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Decreased t... ORPHA:300298
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Abnormal... ORPHA:848
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Abnormal circulating porphyrin concentration... ORPHA:79278
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Perip... OMIM:607250
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Tip-toe gait, Decreased liver function, Retinal dystrophy, Cerebellar vermis atrop... OMIM:614877
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating... OMIM:604250
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly OMIM:618852
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Aceruloplasminemia
Limb ataxia, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... ORPHA:48818
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Increased hepatic glycogen content, Atrophy/Degeneration affecting the brainste... OMIM:614946
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Distal sensory impairment, Cerebellar vermis atrophy,... ORPHA:497764
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Protoporphyria, Erythropoietic, 2
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia OMIM:618015
Null Syndrome
Optic atrophy, Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Abnorm... ORPHA:280234
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G... OMIM:614895
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp... ORPHA:240094
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ... OMIM:606069
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Hepatosplen... OMIM:604416
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxi... OMIM:617672
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Gliosis, Hyperlipidemia, Gait disturbance, Mildly... OMIM:604484
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... ORPHA:398063
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Chronic Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Paresthesia, Falls, Spontaneous pain sensation, Sensory ataxia, Unsteady gait... ORPHA:2932
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Distal sensory impairment, Impaired pain sensation, Axonal regeneration, Impaired ... OMIM:615185
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Steppage gait, Difficulty walking, Distal sensory impairment, Axonal degeneration/regeneration, O... OMIM:606483
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal sensory impairment, Hypertrophic nerve changes, Positive Romberg sign, Gait ataxia, Hypoes... OMIM:601098
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Abnormal upper motor neuron morphology, Gliosis, Gait disturba... OMIM:221770
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati... OMIM:620378
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Distal sensory impairment, Impaired pain sensation, Gait ataxia, D... ORPHA:101111
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Abnormal mot... DECIPHER:29
Hypertrophic Neuropathy Of Dejerine-Sottas
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Broad-based gait, Impaired ... OMIM:145900
Congenital Disorder Of Glycosylation, Type Iiq
Elevated circulating hepatic transaminase concentration, Decreased circulating ceruloplasmin conc... OMIM:617395
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal sensory impairment, Onion bulb formation, Gait disturbance, Rod-cone dystro... OMIM:311070
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Distal sensory impairment, Hypertrophic nerve changes... OMIM:214400
Cog2-Cdg
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:435934
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Bone spicule pigmentation of the retina, Hyperintensity o... OMIM:609033
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Steppage gait, Difficulty walking, Distal sensory impairment, Impaired pain sensation, Impaired d... OMIM:618279
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Hypoplasia of the ... OMIM:620542
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... OMIM:118200
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... OMIM:616689
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate... OMIM:613280
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Steppage gait, Difficulty walking, Distal sensory impairment, Pos... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Decreased n... OMIM:118210
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Charcot-Marie-Tooth Disease Type 4G
Difficulty walking, Distal sensory impairment, Gait imbalance, Impaired tactile sensation, Impair... ORPHA:99953
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Distal sensory impairment, Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Clusters of ax... OMIM:607734
Neuromyelitis Optica Spectrum Disorder
Myelitis, Neuronal loss in central nervous system, Optic neuritis, Somatic sensory dysfunction, P... ORPHA:71211
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Hypertrophic nerve changes, Gait ataxia, Decreased number of periphera... OMIM:180800
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a... OMIM:224120
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Distal sensory impairment, Waddling gait, Unsteady gait, Decreased nu... OMIM:609311
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... OMIM:615376
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,... ORPHA:95434
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... OMIM:118220
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:607677
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Axonal degeneration, Truncal ataxia, Chorea, Cerebellar a... OMIM:208920
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Sensory axonal neuropathy, Cerebellar vermis atrophy, Elevated circulating creatine kinase concen... OMIM:619054
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... OMIM:610951
Niemann-Pick Disease, Type A
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Elevated circulating alanine aminot... OMIM:257200
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Steppage gait, Difficulty walking, Distal sensory impairment, Peripheral axonal ne... OMIM:615035
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Unsteady gait, Dysesthesia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia ORPHA:98764
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... OMIM:608340
Charcot-Marie-Tooth Disease, Type 4C
Difficulty walking, Distal sensory impairment, Axonal degeneration, Abnormal cranial nerve morpho... OMIM:601596
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Peripheral axonal neuropathy, Impaired distal vibration sensation, Impaired distal... OMIM:610100
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia, Increased cir... OMIM:600462
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Abetalipoproteinemia
Abetalipoproteinemia, CNS demyelination, Retinopathy, Ataxia, Retinal degeneration, Peripheral de... OMIM:200100
Multiple Sulfatase Deficiency
Cerebral atrophy, Hepatomegaly, Hydrocephalus, Cerebellar atrophy, CNS demyelination, Ataxia, Spl... OMIM:272200
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Gliosis, Gait ataxia, Dilated fourth ventricle, Ataxia, U... OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired pain sensation, Impaired distal vibration sensation, Decreased number of peripheral myel... OMIM:607706
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4B2
Steppage gait, Difficulty walking, Distal sensory impairment, Decreased number of peripheral myel... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Anemia of inadequate production, Congenit... OMIM:105600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinate... OMIM:609260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia, Peripheral axo... OMIM:604168
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Elevated circulating C-reactive protein concentration, Ele... OMIM:619750
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... OMIM:607791
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Distal sensory impairment, Peripheral demyelination ORPHA:99944
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morphol... OMIM:169500
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ner... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers,... OMIM:605588
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Ag... OMIM:220200
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R... ORPHA:370022
Adult Krabbe Disease
Broad-based gait, Impaired tactile sensation, Gait disturbance, Abnormal medulla oblongata morpho... ORPHA:206448
Krabbe Disease
Optic atrophy, Hydrocephalus, CNS demyelination, Diffuse cerebral atrophy, Neurodegeneration, Per... OMIM:245200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the brainstem, Sensory... OMIM:271245
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Loss of ambulation, Peripheral demyelination, Gait ataxia OMIM:249900
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Difficulty walking, Onion bulb formation, Distal sensory impairment OMIM:608323
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Distal sensory impairment, Onion bulb formation, Falls, Cerebellar vermis atrophy, ... OMIM:270550
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Difficulty walking, Distal sensory impairment, Axonal degeneration, Cerebellar atro... OMIM:302800
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated circulating alanine am... OMIM:610198
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Tip-toe gait, Chorea, Cerebellar atrophy, Gait ataxia, Unsteady gait, Spastic a... ORPHA:397946
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... ORPHA:231226
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Cirrhosis, Hepatomegaly, Decreased circulating iron concentration OMIM:614602
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Distal sensory impairment, Impaired pain sensation, Facial palsy, Impaired distal ... OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal sensory impairment, Decreased number of large peripheral mye... OMIM:608673
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... ORPHA:231214
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Segmental peripheral demyelination/remyelination, Hypoesthesia OMIM:162500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Neuronal loss in central nervous system, Micro... OMIM:300868
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Increased total iron binding capacity, Hepatomegaly, Elevated circulating hepatic trans... ORPHA:309854
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Distal sensory impairment, Elevated circulating creatine kinase concentration, Oni... OMIM:614455
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Cerebellar atrophy,... OMIM:614831
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Distal sensory impairment, Gait disturbance, Onion bulb formation, Ax... OMIM:611228
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Macular degeneration, Impaired vibration sensation in the lower limbs... OMIM:604360
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia ORPHA:51208
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Difficulty walking, Distal sensory impairment, Axonal regeneration, D... OMIM:605285
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Impaired distal proprioception, Impaired distal vibration sensation, G... OMIM:601455
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Cerebellar at... OMIM:215470
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Gait ataxia ORPHA:98773
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Unsteady gait, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Pernicious Anemia
Megaloblastic anemia OMIM:170900
East Syndrome
Peripheral hypomyelination, Difficulty walking, Inability to walk, Hypokalemia, Peripheral axonal... ORPHA:199343
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Impaired distal tactile se... OMIM:600882
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Spastic ataxia, Increased intramyocellular lipid ... OMIM:614487
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Microcytic anemia ORPHA:324737
Parkinson Disease 17
Akinesia OMIM:614203
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal... OMIM:185000
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ... ORPHA:98856
Spinocerebellar Ataxia 25
Impaired pain sensation, Abolished vibration sense, Cerebellar atrophy, Ataxia, Decreased number ... OMIM:608703
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Brain atrophy, Gait disturbance, Loss of ambulation, Onion bulb format... OMIM:615284
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Retinal dysplasia OMIM:615771
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Congenital Disorder Of Glycosylation, Type Iq
Elevated circulating hepatic transaminase concentration, Microcytic anemia OMIM:612379
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Hyperammonemia, Leukopenia, Thrombocytopenia ORPHA:27
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa... OMIM:607080
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia ORPHA:90308
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Peripheral demyelination OMIM:616733
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration OMIM:619423
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Spinocerebellar Ataxia 1
Optic atrophy, Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Spinocerebell... OMIM:164400
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ... OMIM:619991
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Chorea, Cerebral cortical atrophy, Ataxia, Ventriculomegaly, Dysmetri... ORPHA:48431
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Abnormality of iron homeostasis, Abnormality of the pancreas, Hepatomegaly, ... OMIM:222470
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Peripheral axonal neuropathy, Somatic sensory... ORPHA:101082
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Methylmalonic acidemia, Microcytic anemia OMIM:612073
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Throm... OMIM:617021
Foxp1 Syndrome
Decreased circulating iron concentration ORPHA:391372
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Elevated circulating hepatic transaminase concentration, Microvesi... ORPHA:66634
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot... OMIM:617093
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin concentration ORPHA:54028
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Optic atrophy, Macular coloboma, Methylmalonic acidemia, Jaundice, Hyperhomocys... ORPHA:79282
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Inability to walk, Distal sensory impairment, Impaired distal proprioc... ORPHA:99948
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia, Distal sensory impairment OMIM:616287
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Facial palsy, Myelin outfoldings, Irregular myelin loops OMIM:601382
Acatalasemia
Microcytic anemia ORPHA:926
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Pontocerebellar atrophy, Difficulty walking, Atrophy/Degeneration affecting the br... ORPHA:171629
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Retinal dystrophy, Brain atrophy, Cereb... OMIM:620428
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Hypomethion... OMIM:236270
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Brain atrophy, Sensory axonal neuropathy, Waddling gait, Elevat... ORPHA:52430
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Retinal atrop... OMIM:615960
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ... OMIM:611890
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Truncal ataxia, Chorioretinal atrophy, Dilated fourth v... OMIM:220220
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokines... OMIM:612319
Metachromatic Leukodystrophy
Optic atrophy, Gallbladder dysfunction, Chorea, Gait disturbance, Ataxia, Cholecystitis, Peripher... OMIM:250100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of the striatum, Peripheral axonal neuropathy, Cerebe... ORPHA:276244
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking OMIM:611067
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, T lymphocytope... ORPHA:2959
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Dilated fourth ventricle, Diffuse cer... ORPHA:1170
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... OMIM:613839
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spinocerebellar Ataxia 2
Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebellar atrophy, Dilated fourt... OMIM:183090
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Hypouricemia, Gliosis, Diffuse cerebral atrophy, Ventriculomegaly, Peripheral d... OMIM:252160
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dilate... ORPHA:251347
Congenital Myopathy 9A
Akinesia OMIM:618822
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:3240
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Distal sensory impairment, Sensory axonal neuropathy, Facial palsy, Abnormal cereb... OMIM:256850
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... ORPHA:100070
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Symmetrical progressive peripheral demyelination, Elevated circulati... OMIM:231670
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Elevat... ORPHA:370959
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Glio... ORPHA:275872
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Limb ataxia, Demyelinating sensory neuropathy, Steppage gait, Imp... ORPHA:101085
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy, Hypokalemia, Dysdiadochokinesis, Cerebella... OMIM:612780
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Ataxia OMIM:607454
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Difficulty walking, Inability to walk, Impaired tactile sensation, Sensory axonal n... ORPHA:466768
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Hypoplasia of the thymus, Increased mea... ORPHA:84064
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Hypouricemia, Gliosis, Ventriculomegaly, Peripheral demyelination, Axonal loss OMIM:252150
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... OMIM:300972
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Hepatic fibrosis, Bile duct... OMIM:610688
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Axonal degeneration, Pallor of dorsal columns of the spinal cord, Atrophy of ... OMIM:602433
Polyglucosan Body Neuropathy, Adult Form
Distal sensory impairment, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, ... OMIM:263570
Trigeminal Neuralgia
Cranial nerve compression, CNS demyelination, Somatic sensory dysfunction, Peripheral demyelinati... ORPHA:221091
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination, Distal sensory impairment,... OMIM:609136
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia OMIM:619046
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Increased serum pyruvate, Anemia, Hyperalaninemia OMIM:619147
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... OMIM:105550
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Difficulty walking, Retinal dystrophy, Waddling gait, Ataxia, Unsteady gait, De... ORPHA:464282
Machado-Joseph Disease
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gliosis, Cerebellar atrophy, Dilated ... OMIM:109150
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Corticobasal Syndrome
Akinesia, Gait disturbance ORPHA:454887
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Elevated circulating creatine kinase concentration, Abnormal lower motor neuron morphology, Amyot... OMIM:613954
H Syndrome
Hypertriglyceridemia, Histiocytosis, Hepatosplenomegaly, Microcytic anemia ORPHA:168569
Peho Syndrome
Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Peripheral dysmyelina... OMIM:260565
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Truncal ataxia, Gait ataxia, Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Spastic gait, Loss of ambulation, Abnormal upper motor neuron morphology OMIM:606353
Barth Syndrome
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... OMIM:302060
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Gait distu... OMIM:614298
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Von Willebrand Disease
Thrombocytopenia, Microcytic anemia ORPHA:903
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:603909
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607831
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ... ORPHA:89842
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Leukodystrophy, Hypomyelinating, 5
Abnormal cerebellum morphology, Loss of ambulation, CNS hypomyelination, Onion bulb formation, Le... OMIM:610532
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hepatomegaly, Demyelinating peripheral neuropathy, Chorea, Hyperalaninemia, Pigmen... ORPHA:255210
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome