Gene Summary

Name:
GIPC PDZ domain containing family, member 3
Synonyms:
Rgs19ip3,  Ahl5,  Gipc3

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
microphthalmia Gipc3tm1b(KOMP)Wtsi HOM Early adult 0.00
thrombocytopenia Gipc3tm1b(KOMP)Wtsi HOM   Early adult 7.90×10-05
shortened PR interval Gipc3tm1b(KOMP)Wtsi HOM Early adult 8.04×10-05
decreased prepulse inhibition Gipc3tm1b(KOMP)Wtsi HOM   Early adult 6.38×10-05
decreased circulating chloride level Gipc3tm1b(KOMP)Wtsi HOM   Early adult 9.79×10-05
increased mean corpuscular volume Gipc3tm1b(KOMP)Wtsi HOM   Early adult 7.96×10-05
abnormal spinal cord morphology Gipc3tm1b(KOMP)Wtsi HOM Early adult 0.00
increased mean corpuscular hemoglobin Gipc3tm1b(KOMP)Wtsi HOM   Early adult 3.02×10-10
decreased startle reflex Gipc3tm1b(KOMP)Wtsi HOM   Early adult 2.22×10-05
abnormal epididymis morphology Gipc3tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal auditory brainstem response Gipc3tm1b(KOMP)Wtsi HOM   Early adult 3.91×10-14

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Ovary  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thalamus 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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 587)
aorta 0.17% (1 of 592)
bone 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
urinary bladder 0.0%
uterus 0.34% (2 of 589)
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)
brain 1.25% (6 of 479)
dorsal root ganglion 1.75% (1 of 57)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
fronto-nasal process 1.82% (1 of 55)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
nose 1.41% (1 of 71)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

Sleep Wake

Wake state (bmp file)

17 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Adult LacZ

LacZ Images Section

3 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Auditory Brain Stem Response

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

2 Images

Human diseases caused by Gipc3 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 Gipc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869

The table below shows human diseases predicted to be associated to Gipc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia ORPHA:71289
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Ju... ORPHA:137675
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Splenomegaly, Sinus tachycardia, Increased ... OMIM:232300
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Palpitations, Shortened PR... ORPHA:79102
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... ORPHA:98826
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... ORPHA:86839
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Elevated circulating creatine kinase concentration, H... ORPHA:308552
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Mitral... ORPHA:261250
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia OMIM:141000
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size, Hypsarrhythmia OMIM:601815
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
EEG abnormality, Arrhythmia, Thrombocytopenia, Hypertension, Sideroblastic anemia OMIM:617021
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired epinephrine-induced platelet aggregation, Neutrophil i... OMIM:155100
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy... OMIM:124900
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:613090
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Decreased nerve conduction velocity, Acute myelomonocytic leukem... OMIM:159550
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy ORPHA:295
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... OMIM:620066
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Ab... ORPHA:848
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... OMIM:613673
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Left ventricular outflow tract obstruction, Elevated circulating creat... ORPHA:365
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:602522
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Gombo Syndrome
Microphthalmia OMIM:233270
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Sensorineural hearing impairment, Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Ane... OMIM:616738
Wt Limb-Blood Syndrome
Sensorineural hearing impairment, Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytope... OMIM:194350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Transaldolase Deficiency
Telangiectasia, Abnormality of the clitoris, Hepatosplenomegaly, Abnormal circulating glutamine c... ORPHA:101028
Systemic Lupus Erythematosus 17
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, M... OMIM:301080
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619302
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Forsythe-Wakeling Syndrome
Low-set ears, Thrombocytopenia, Macrotia OMIM:613606
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Paroxysmal atrial tachycardia, Optic atro... ORPHA:49827
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Dystonia OMIM:610329
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Abnormally large globe, Increased circulating renin level, Impaired ... OMIM:241200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Sideroblastic anemia, Arrhythmia, Optic atrophy, Cryptorchidism... OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hem... OMIM:613101
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Megaloblastic anemia, Abnormal autonomic nervous system physiol... OMIM:598500
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Anemia, Leukopenia, Aplastic anem... ORPHA:811
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia,... ORPHA:54057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Cardiomyopathy, Neutropenia, Anemia... ORPHA:79312
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Hypospadia... ORPHA:124
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... OMIM:612562
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia, Thrombocyt... ORPHA:27
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Optic disc pallor, Poikilo... OMIM:616959
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon ORPHA:401945
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets OMIM:137560
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Microphthalmia OMIM:616570
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia ORPHA:289916
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Congenital Toxoplasmosis
Anemia, Hearing impairment, Thrombocytopenia, Microphthalmia ORPHA:858
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Hearing impairment, EEG abnormality, Thrombocytopenia OMIM:614946
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia, Microphthalmia OMIM:619981
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous ... OMIM:250790
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Preeclampsia
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Polycystic ovari... ORPHA:275555
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... ORPHA:398124
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Postural tremor, Thrombocytopenia OMIM:254900
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... OMIM:601678
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... ORPHA:85451
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia OMIM:616176
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Stt3B-Cdg
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum ORPHA:370924
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... OMIM:231200
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia, Microphthalmia, Reduced systolic func... OMIM:618805
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia OMIM:615085
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Bartter Syndrome Type 4
Protruding ear, Hypokalemia, Hypomagnesemia, Increased circulating renin level, Hyponatremia, Hyp... ORPHA:89938
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum OMIM:615597
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... OMIM:173470
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Microphthalmia, Anophthalmia, Macrotia OMIM:221950
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Genital ulcers, Lymphopenia OMIM:616744
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia OMIM:615524
Congenital Rubella Syndrome
Sensorineural hearing impairment, Splenomegaly, Thrombocytopenia, Microphthalmia, Anemia, Aplasia... ORPHA:290
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Dystonia OMIM:610333
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor, Faci... OMIM:611490
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Thrombocytopenia, Posteriorly rotated ears, Elevated circulating creatine kinase co... OMIM:614727
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia OMIM:278780
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Rhabdoid Tumor
Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thrombocytopenia ORPHA:69077
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Microphthalmia OMIM:616171
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Developmental And Epileptic Encephalopathy 1
Micropenis, EEG with burst suppression, Choreoathetosis, Hypsarrhythmia, Microphthalmia, Dystonia OMIM:308350
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia, Congestive h... ORPHA:108
Wolfram Syndrome 1
Sensorineural hearing impairment, Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Opt... OMIM:222300
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias, Hypogonadism ORPHA:141333
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Cofs Syndrome
Optic atrophy, Sensorineural hearing impairment, Microphthalmia, Hypogonadism ORPHA:1466
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Thrombocytopenia ORPHA:3327
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, High-frequency sensorineural hearing imp... OMIM:153640
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Abnormality of peripheral nerve conduction, Hypogonadotropic hypogonadism, Micr... ORPHA:48431
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure OMIM:619751
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis, Epi... OMIM:300367
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Pu... OMIM:614857
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Bilateral microphthalmos OMIM:608763
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... ORPHA:91547
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Slc35A1-Cdg
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Increased blood urea nitrogen, Schistocytosis, Tremor, Myocardial infa... OMIM:274150
Bone Marrow Failure Syndrome 4
Anemia, Low-set ears, Thrombocytopenia, Leukopenia OMIM:618116
Pierpont Syndrome
Uplifted earlobe, Microphthalmia, Cryptorchidism, Macrotia, Hearing impairment, Posteriorly rotat... ORPHA:487825
Myh9-Related Disease
Sensorineural hearing impairment, Neutrophil inclusion bodies, Congenital thrombocytopenia, Incre... ORPHA:182050
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... ORPHA:529808
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... ORPHA:529799
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... ORPHA:35858
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... ORPHA:101016
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Warburg Micro Syndrome 1
Microphthalmia, Cryptorchidism, External genital hypoplasia, Optic atrophy, Macrotia, Low-set ears OMIM:600118
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Specific Granule Deficiency 2
Low-set ears, Abnormal pinna morphology, Thrombocytopenia, Simple ear, Neutropenia, Anemia, Absen... OMIM:617475
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Lig4 Syndrome
Telangiectasia, Micropenis, Pancytopenia, Cryptorchidism, Thrombocytopenia OMIM:606593
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... ORPHA:88
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Microtia, Anemia, Hypospadias, Low-set, posteriorly rotated ears, Hearing impairm... OMIM:611209
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Pierpont Syndrome
Large fleshy ears, Cryptorchidism, Micropenis, Microphthalmia, Hearing impairment, Posteriorly ro... OMIM:602342
Congenital Fibrinogen Deficiency
Opisthotonus, Micropenis, Hemorrhagic ovarian cyst, Tachycardia, Decreased testicular size, Micro... ORPHA:335
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Hypsarrhythmia, Prolonged PR interval... ORPHA:542306
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hyponatremia, Th... ORPHA:83601
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Cryptorchidism, Anemia, Anoph... ORPHA:90321
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Pulmonary arterial hypertension, Hyponatremia, Hyperuricemia, Anemia,... OMIM:613845
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Propionic Acidemia
Cerebellar hemorrhage, Hyperammonemia, Pancytopenia, Hyperglycinemia, Cardiomyopathy, Neutropenia... OMIM:606054
Mirage Syndrome
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Anemia, Leukopenia, Intracranial hemorr... OMIM:617053
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Thrombocytopenia OMIM:274240
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Microphthalmia ORPHA:1617
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis OMIM:618624
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Epistaxis, Asplenia... OMIM:185070
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Anemia, Thrombocytop... OMIM:600901
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia,... OMIM:603585
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Elevated... ORPHA:99901
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leu... OMIM:214500
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... OMIM:259710
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia, Pericarditis OMIM:152700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism ORPHA:363741
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Ane... OMIM:608104
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Microphthalmia OMIM:610023
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... ORPHA:98850
Microphthalmia, Syndromic 13
Abnormal pinna morphology, Anteverted ears, Microphthalmia OMIM:300915
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Optic nerve hypoplasia, Pseudopapilledema, Unilateral microphthalmos, Optic disc... ORPHA:137902
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage ORPHA:3002
Zika Virus Disease
Myelitis, Thrombocytopenia, Optic disc hypoplasia, Abnormal optic disc morphology, Transient hear... ORPHA:448237
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Anemia, Thrombocytop... OMIM:227650
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris OMIM:612783
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia, Low-set, posteriorly rotated ears ORPHA:1237
Neuroleptic Malignant Syndrome
Tremor, Hyperuricemia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tac... ORPHA:94093
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology ORPHA:229717
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Von Hippel-Lindau Syndrome
Sensorineural hearing impairment, Polycythemia, Papillary cystadenoma of the epididymis, Tinnitus... OMIM:193300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Elevated circulating creatine kinase concentration, Bra... OMIM:618775
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Pancytopenia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemi... OMIM:251100
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bresek Syndrome
Low-set ears, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Decreased testicular size, ... ORPHA:85284
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Hypotensio... ORPHA:292
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, EEG with polyspike wave complexes, EEG with irregular generalized spi... ORPHA:1942
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Gaucher Disease, Type I
Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Pancy... OMIM:230800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Leukemia, Microphthalmia OMIM:602501
Acquired Methemoglobinemia
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intrac... ORPHA:3226
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Sensorineural hearing impairment, EEG abnormality, Thrombocytopenia OMIM:616577
Vexas Syndrome
Sensorineural hearing impairment, Elevated circulating C-reactive protein concentration, Macrocyt... OMIM:301054
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Low-set, posteriorly rotated ears, Microcytic anemia, HbH hemoglobin, Cryptorchidism... ORPHA:98791
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Anemia, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, ... OMIM:259700
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Hypotension, Gastrointestinal hemorrhage, Throm... ORPHA:99828
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia, Portal hypert... ORPHA:210136
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Macrotia OMIM:600776
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutr... OMIM:251000
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Congenital throm... OMIM:618886
Keratoderma Hereditarium Mutilans
Sensorineural hearing impairment, Hypogonadotropic hypogonadism, Hearing impairment, Abnormality ... ORPHA:494
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Shock, Internal h... ORPHA:49566
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormality of the spinal cord, Abnormal autonomic ner... ORPHA:139578
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Optic atrophy, Tremor, Cardiomyopathy, Thrombocytopenia, Dystonia OMIM:617710
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials OMIM:109120
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Large earlobe, Low-set ears, Abnormal left ventricular function, Cryptorchidism, Micropenis, Pulm... OMIM:301056
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Cat-Eye Syndrome
Hearing impairment, Microphthalmia ORPHA:195
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Portal hypertension, Gastrointesti... ORPHA:64743
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Optic atrophy, Microphthalmia ORPHA:1473
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Neutropenia, Microtia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic... OMIM:277380
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Tricuspid regurgitation, Microphthalmia, Low-set ears, Bilatera... OMIM:618652
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric... ORPHA:160
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Microphthalmia OMIM:617255
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Hand tremor, Optic atrophy, Postural tremor, Abnormality of the... ORPHA:99947
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Tularemia
Anemia, Thrombocytopenia, Tachycardia, Leukocytosis ORPHA:3392
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Impaired ADP-induced platelet aggregation, Absent platelet dense granule... OMIM:614074
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Cryptorchidism, Microtia, Leukopenia, Microphthalmia, Anemia, Thro... OMIM:603467
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Microphthalmia OMIM:617883
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Low-set ears, Microphthalmia ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Low-set ears, Microcytic anemia, Microphthalmia OMIM:612379
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Meckel Syndrome, Type 8
Low-set ears, Anophthalmia, Microphthalmia OMIM:613885
Transaldolase Deficiency
Telangiectasia, Low-set ears, Splenomegaly, Hepatosplenomegaly, Clitoral hypertrophy, Pancytopeni... OMIM:606003
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Fetal Gaucher Disease