Gene Summary

Name:
zinc finger, ZZ-type with EF hand domain 1
Synonyms:
C130099L13Rik,  8430405D05Rik

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
abnormal optic disk morphology Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 8.71×10-05
abnormal kidney morphology Zzef1tm2.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.65×10-05
increased mean corpuscular hemoglobin Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 6.29×10-07
hyperactivity Zzef1tm2.1(KOMP)Vlcg HOM Early adult 8.91×10-05
increased coping response Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.99×10-05
abnormal sleep behavior Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 4.07×10-06
increased kidney weight Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 6.45×10-06
decreased body length Zzef1tm2.1(KOMP)Vlcg HOM Early adult 5.50×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 100% (6 of 6)
Aorta  Wholemount images  Section images heterozygote 100% (6 of 6)
Bone marrow  Section images heterozygote 66.67% (4 of 6)
Brain  Wholemount images  Section images heterozygote 66.67% (4 of 6)
Brainstem  Section images heterozygote 33.33% (2 of 6)
Brown adipose tissue  Wholemount images  Section images heterozygote 100% (6 of 6)
Cartilage tissue  Section images heterozygote 33.33% (2 of 6)
Cecum  Wholemount images  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (6 of 6)
Cerebral cortex  Section images heterozygote 33.33% (2 of 6)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Diaphragm  Wholemount images  Section images heterozygote 50% (2 of 4)
Duodenum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (3 of 6)
Esophagus  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Eye  Wholemount images  Section images heterozygote 100% (6 of 6)
Gall bladder  Wholemount images heterozygote 25% (1 of 4)
Gonadal fat pad  Wholemount images  Section images heterozygote 75% (3 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Heart  Section images heterozygote 33.33% (2 of 6)
Hippocampus  Section images heterozygote 33.33% (2 of 6)
Hypothalamus  Section images heterozygote 33.33% (2 of 6)
Ileum  Wholemount images  Section images heterozygote 100% (4 of 4)
Jejunum  Wholemount images  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (6 of 6)
Large intestine  Section images heterozygote 33.33% (2 of 6)
Liver  Wholemount images  Section images heterozygote 100% (6 of 6)
Lung  Wholemount images  Section images heterozygote 100% (6 of 6)
Lymph node  Section images heterozygote 33.33% (2 of 6)
Mammary gland  Section images heterozygote 16.67% (1 of 6)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric lymph node  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (6 of 6)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (6 of 6)
Ovary  Wholemount images  Section images heterozygote 50% (3 of 6)
Oviduct  Wholemount images  Section images heterozygote 50% (3 of 6)
Pancreas  Wholemount images  Section images heterozygote 100% (6 of 6)
Parathyroid gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Parotid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Peripheral nervous system  Section images heterozygote 33.33% (2 of 6)
Peyer's patch  Section images heterozygote 33.33% (2 of 6)
Pituitary gland  Wholemount images  Section images heterozygote 100% (6 of 6)
Prostate gland  Section images heterozygote 16.67% (1 of 6)
Quadriceps  Wholemount images  Section images heterozygote 75% (3 of 4)
Sciatic nerve  Wholemount images  Section images heterozygote 75% (3 of 4)
Skeletal muscle  Section images heterozygote 33.33% (2 of 6)
Skin  Wholemount images  Section images heterozygote 100% (6 of 6)
Small intestine  Section images heterozygote 33.33% (2 of 6)
Spinal cord  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Spleen  Wholemount images  Section images heterozygote 100% (6 of 6)
Stomach  Wholemount images  Section images heterozygote 100% (6 of 6)
Striatum  Section images heterozygote 33.33% (2 of 6)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 66.67% (4 of 6)
Testis  Wholemount images  Section images heterozygote 50% (3 of 6)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Thyroid gland  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (6 of 6)
Uterus  Wholemount images  Section images heterozygote 50% (3 of 6)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vascular system  Section images heterozygote 33.33% (2 of 6)
Vesicular gland  Wholemount images  Section images heterozygote 33.33% (2 of 6)
White adipose tissue  Section images heterozygote 33.33% (2 of 6)
Blood N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available

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 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 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 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 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 Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

242 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Adult LacZ

LacZ Images Wholemount

58 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Whole Body Dorso Ventral

25 Images

X-ray

XRay Images Forepaw

25 Images

X-ray

XRay Images Skull Lateral Orientation

25 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

Eye Morphology

Images Slit Lamp

3 Images

Embryo LacZ

LacZ images wholemount

12 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Zzef1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Zzef1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Morm Syndrome
Micropenis, Hyperactivity, Abnormality of the kidney, Aggressive behavior, Retinal atrophy, Retin... ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Spastic Ataxia 4, Autosomal Recessive
Emotional lability, Optic atrophy OMIM:613672
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Ribose 5-Phosphate Isomerase Deficiency
Decreased level of erythritol in urine, Increased level of xylitol in urine, Increased level of r... OMIM:608611
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Optic atrophy OMIM:614296
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy, Vacuolated lymphocytes OMIM:609055
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Delayed epiphyseal ... OMIM:618889
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Camos Syndrome
Nephrotic syndrome, Optic atrophy, Renal insufficiency ORPHA:83472
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Hyperprolinemia, Type I
Hyperactivity, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperglycinuria OMIM:239500
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Facial palsy, Thrombocytopenia, Optic atrophy OMIM:615085
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion, Aggressive behavior OMIM:248510
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Hydronephrosis, Abnormal autonomic nervous system phy... OMIM:598500
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Optic disc pallor, Osteopetrosis, Reticul... OMIM:611490
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Optic atrophy ORPHA:1538
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Aggressive behavior OMIM:619470
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Hepatomegaly, Anemia, Irritability, Abnormal hemoglobin, Thrombo... ORPHA:848
Glycine Encephalopathy
Hyperglycinuria, Irritability, Hyperactivity, Aggressive behavior OMIM:605899
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia, Hepatomegaly OMIM:613977
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Increased level of hippuric acid in urine, Irritabil... OMIM:261600
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Retinal arteriolar constriction, Renal insuffici... OMIM:249660
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Craniosynostosis, Optic atrophy, Increased bone mineral density ORPHA:178377
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Sclerosteosis
Increased bone mineral density, Optic atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal ... ORPHA:3152
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Anxiety, Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Neutrop... OMIM:617303
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Uraciluria OMIM:274270
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Craniosynostosis, Proteinuria, Abnormal retinal morphology on macular OCT, Macro... ORPHA:251004
Cherubism
Bone cyst, Optic atrophy ORPHA:184
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Violent behavior, Inertia, Emotional lability, Irritability, Optic atrophy ORPHA:216873
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Increased skull ossification, Optic atrophy OMIM:619690
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Optic atrophy ORPHA:2787
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Early-Onset X-Linked Optic Atrophy
Emotional lability, Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Optic disc pallor, Retinal thinning OMIM:618970
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Pigmentary retinopathy, Irritability, Rod-cone dystrophy, Optic atrophy OMIM:264470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 1
Irritability, Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Asplenia OMIM:615415
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Usher Syndrome, Type 1M
Optic disc pallor, Left ventricular hypertrophy, Drusen OMIM:618632
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy ORPHA:1513
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Cranial ner... OMIM:259710
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Osteoporosis... OMIM:232220
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy OMIM:258501
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Wolfram-Like Syndrome
Anxiety, Peripheral axonal neuropathy, Optic atrophy, Abnormality of the upper urinary tract ORPHA:411590
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy, Splenomegaly OMIM:602271
Renal Coloboma Syndrome
Renal hypoplasia, Optic nerve dysplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal ins... ORPHA:1475
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated urinary 4-hydroxybutyric acid, Self... OMIM:271980
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Ck Syndrome
Irritability, Hyperactivity, Abnormal cortical bone morphology, Aggressive behavior OMIM:300831
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Absent in utero o... OMIM:608022
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Abnormal peripheral action potential amplitude, Decreased nerve conduc... ORPHA:457205
Optic Atrophy 6
Optic atrophy OMIM:258500
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Sarcosinemia
Emotional lability, Hypersarcosinuria, Optic atrophy ORPHA:3129
Papillorenal Syndrome
Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Renal malrotation,... OMIM:120330
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Neutropenia, Anemia, Renal insufficiency, Thrombocytopen... ORPHA:289916
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Poikilocytosis, Anisocytosis, Retinal atrophy, Anemia, Optic ... OMIM:616959
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, Aggressive behavior ORPHA:505216
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Osteoporosis... OMIM:232200
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... ORPHA:96369
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Osteolysis... ORPHA:464329
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Optic atrophy OMIM:230600
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Aminoaciduria, Thiamine-responsive megaloblastic anem... OMIM:249270
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy OMIM:604121
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Retinal detachment, Retinal fold, O... OMIM:251270
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Organic aciduria, Optic atrophy, Aggressive behavior OMIM:614707
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hepatomegaly, Anemia, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Optic... ORPHA:27
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Proximal tubulopathy, Splenomegaly, Hepatomegaly, O... ORPHA:231222
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Schindler Disease, Type I
Osteopenia, Optic atrophy, Increased urinary O-linked sialopeptides OMIM:609241
Leigh Syndrome With Leukodystrophy
Emotional lability, Pigmentary retinopathy, Optic atrophy, Anemia ORPHA:255241
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Retinal detachment, Abnormality of macular pigmentation, Optic disc pallor,... OMIM:300476
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hepatomegaly, Aggressive behavior, Heparan sulfate excretion in urin... OMIM:252920
Amish Lethal Microcephaly
Osteoporosis, Hepatomegaly, Decreased skull ossification, Irritability, Organic aciduria, Optic a... ORPHA:99742
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior ORPHA:369939
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Leukopenia, Hepatosplenomegaly, Nephrotic syndrome, Proteinuria, Abnormality of ... ORPHA:505248
Optic Atrophy 11
Hyperactivity, Facial diplegia, Optic atrophy OMIM:617302
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity, Polyuria, Renal magnesium wasting, Renal potassium wasting OMIM:618314
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior ORPHA:2382
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Proximal renal tubular acidosis, Aggressive behavior OMIM:615824
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive behavior, Irritabil... ORPHA:3077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Renal insufficiency, Thrombocytopenia, Optic atr... ORPHA:79312
Spastic Paraplegia Type 7
Urinary urgency, Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder ORPHA:99013
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Aggressive behavior, Urinary incontinence... OMIM:617698
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:608836
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Retinal detachment, Optic atrophy, Hematuria ORPHA:1473
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Abnormality of... ORPHA:168569
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Diencephalic Syndrome
Long penis, Optic atrophy ORPHA:1672
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritability, Optic disc pall... ORPHA:644
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemi... OMIM:259700
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Stage 5 chronic kidney disease, Nephritis OMIM:609057
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, As... OMIM:208540
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Aggressive behav... ORPHA:97229
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Papilledema OMIM:240150
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Normochromic microcytic anemia, Hypospadias, Glutaric aciduria, Optic ... OMIM:610198
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Optic atrophy, Attention deficit hyperacti... ORPHA:313892
Beta-Propeller Protein-Associated Neurodegeneration
Abnormal autonomic nervous system physiology, Aggressive behavior, Optic atrophy ORPHA:329284
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Attention deficit hyperactivity ... ORPHA:98818
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Megaloblastic anemia, Hydronephrosis, Pigmentary retinopathy, ... OMIM:222300
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Hypophosphatemic... OMIM:276700
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence, Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Norrie Disease
Retinal detachment, Retinal dysplasia, Aggressive behavior, Retinal fold, Optic atrophy OMIM:310600
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy, Aggressive behavior OMIM:300438
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Glomerular sclerosis, Proteinuria, Micropenis, Renal insufficiency, Osteoporo... OMIM:619487
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Irritability, Optic disc pallor OMIM:615281
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Craniosynostosis, Hepatomegaly, Polysplenia OMIM:200995
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal detachment, Aggressive behavior, Retinal ... OMIM:152950
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Peripheral demyelination, Optic atrophy OMIM:618237
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Thrombocytopenia, Optic atrophy, Megaloblastic anemia ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Neutropenia, Optic atrophy OMIM:251900
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Hyperostosis Cranialis Interna
Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyperostosis cranialis interna, ... OMIM:144755
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Juvenile Paget Disease
Cranial hyperostosis, Abnormality of retinal pigmentation, Osteoporosis, Coarse metaphyseal trabe... ORPHA:2801
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Osteopenia, Nephrolithiasis, Proteinuria, Chronic neutropenia,... ORPHA:79259
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Emotional lability, Optic atrophy ORPHA:254343
Stt3B-Cdg
Micropenis, Thrombocytopenia, Optic atrophy ORPHA:370924
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomega... ORPHA:231214
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary ... OMIM:609033
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hydronephrosis, Abnormality of the kidney, Aganglionic megacolon, Hypopl... ORPHA:847
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Renal hypoplasia, Apathy, Irritability, Optic atrophy ORPHA:135
Cri-Du-Chat Syndrome
Anxiety, Hyperactivity, Abnormality of the kidney, Conspicuously happy disposition, Hypospadias, ... OMIM:123450
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia, Optic atrophy OMIM:615597
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Hyperoxaluria, Primary, Type I
Retinopathy, Nephrocalcinosis, Increased bone mineral density, Hematuria, Optic neuropathy, Hyper... OMIM:259900
Cinca Syndrome
Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Hepatomegaly, Abnormality of neutrop... ORPHA:1451
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence, Optic atrophy, Narcolepsy ORPHA:314404
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hydronephrosis, Renal hypoplasia, Aminoaciduria, Optic atrophy OMIM:617913
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Osteopenia, Anxiety, Oligosacchariduria, Optic disc pallor ORPHA:309288
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Childhood-Onset Spasticity With Hyperglycinemia
Irritability, Left ventricular hypertrophy, Optic atrophy ORPHA:401866
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy, Craniosynostosis ORPHA:1528
Igg4-Related Kidney Disease
Urinary bladder inflammation, Eosinophilia, Enlarged kidney, Abnormal ureter morphology, Hematuri... ORPHA:449395
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Self-biting, Hyperactivity, Aggressive behavior ORPHA:3306
Narcolepsy 7
Narcolepsy OMIM:614250
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic nerve hypoplasia, Optic atrophy OMIM:613638
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Hydronephrosis, Hepatomegaly, Abnormal bone ossification, I... ORPHA:79328
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Irritability, Optic disc pallor, Craniosynostosis OMIM:619076
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias, Optic atrophy OMIM:618688
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Generalized osteosclerosis, Anemia, Facial palsy, Optic atrophy ORPHA:53
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Papilledema, Anemia OMIM:607115
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Heparan sulfate excretion in urine, Ro... OMIM:252930
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, 3-Methylglutaconic aciduria, Self-mutilation, Optic atrophy OMIM:250950
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Muckle-Wells Syndrome
Nephrotic syndrome, Renal amyloidosis, Splenomegaly, Hepatomegaly, Anemia, Nephropathy, Optic atr... ORPHA:575
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Hyperactivity, Abnormal autonomic nervous system physiology, Emotional l... ORPHA:35069
Shwachman-Diamond Syndrome 1
Pancytopenia, Nephrocalcinosis, Acute myeloid leukemia, Hepatomegaly, Irregular ossification at a... OMIM:260400
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Transient neutropenia, Chronic neutropenia, Mul... ORPHA:500095
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Self-injurious behavior, Vesicoureteral reflux, Hypospadia... ORPHA:494344
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, He... OMIM:220110
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Lymphopenia, Aggressive behavior, Hyperactivity ORPHA:391307
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Optic nerve hypoplasia, Self-mutilation, Hypospadias ORPHA:363686
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, HbH hemoglobin ORPHA:98791
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Absent brainstem audit... ORPHA:1215
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, He... ORPHA:436271
Primary Hyperoxaluria
Retinopathy, Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Hyper... ORPHA:416
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Roifman-Chitayat Syndrome
Ectopic kidney, Osteopenia, Optic atrophy OMIM:613328
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Heparan sulfate excretion in urine OMIM:252900
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Papilledema ORPHA:238624
Cerebral Visual Impairment
Optic nerve hypoplasia, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc rati... ORPHA:447788
Joubert Syndrome 1
Chorioretinal coloboma, Renal cyst, Hyperactivity, Retinal dysplasia, Aggressive behavior, Optic ... OMIM:213300
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hyperactivity, Abnormality of the optic disc, Hypospadias OMIM:617516
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder OMIM:618527
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Ac... ORPHA:731
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Spl... ORPHA:116
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Dysosteosclerosis
Abnormal cranial nerve morphology, Increased bone mineral density, Craniofacial hyperostosis, Coa... ORPHA:1782
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Multiple small medullary renal cysts, Sp... OMIM:216360
Peroxisome Biogenesis Disorder 1B
Renal cyst, Epiphyseal stippling, Hepatomegaly, Hyperoxaluria, Rod-cone dystrophy, Optic atrophy OMIM:601539
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Hepatomegaly, Aggressive behavior, Bilateral renal hypoplasia, Hyperechog... OMIM:619695
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Attention deficit hyperactivity disorder, Rod-cone dys... ORPHA:216866
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Lead Poisoning
Cranial hyperostosis, Abnormality of the autonomic nervous system, Renal tubular dysfunction, Imb... ORPHA:330015
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Pediatric-Onset Graves Disease
Craniosynostosis, Mood swings, Hyperactivity, Splenomegaly, Hepatomegaly, Irritability, Neutropen... ORPHA:525731
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Osteopenia, Retinal flecks, Acanthocytosis, Emotion... ORPHA:157850
Acquired Methemoglobinemia
Anxiety, Methemoglobinemia ORPHA:464453
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Coronal craniosynostosis, Papilledema, Sagittal cr... OMIM:614188
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Nocturia, Urinary hesitancy, Urinary urgency, Urinary incontinence OMIM:609727
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Urinary bladder sphincter dysfunction, Neurogenic bladder, At... ORPHA:43
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:616469