Gene Summary

Name:
MINDY lysine 48 deubiquitinase 1
Synonyms:
NF-E2 inducible protein,  1810005H09Rik,  4930504E06Rik,  Fam63a,  cI-40

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Mindy1tm1b(EUCOMM)Wtsi HOM Early adult 1.29×10-07
decreased circulating free fatty acids level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 6.04×10-09
hyperactivity Mindy1tm1b(EUCOMM)Wtsi HOM   Early adult 2.84×10-06
increased bone mineral content Mindy1tm1b(EUCOMM)Wtsi HOM   Early adult 5.83×10-05
abnormal spine curvature Mindy1tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-07
abnormal behavior Mindy1tm1b(EUCOMM)Wtsi HOM Early adult 5.81×10-06
decreased circulating amylase level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 7.30×10-05
decreased circulating glycerol level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 3.59×10-07
corneal opacity Mindy1tm1b(EUCOMM)Wtsi HOM Early adult 1.71×10-06
decreased locomotor activity Mindy1tm1b(EUCOMM)Wtsi HOM Early adult 4.44×10-11
abnormal locomotor activation Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 1.58×10-09
decreased circulating calcium level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 2.60×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 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 50% (1 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote Not available
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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 1.18% (6 of 508)
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)
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)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
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.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Mindy1 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 Mindy1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Corneal opacity, Osteolysis involving tars... OMIM:277950
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Ataxia, Corneal opacity, Corneal dystrophy ORPHA:3177
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Galactosialidosis
Corneal opacity, Abnormal vertebral morphology ORPHA:351
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Morquio Syndrome C
Corneal opacity, Platyspondyly OMIM:252300
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunodeficiency 8
Hyperactivity OMIM:615401
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Gait disturbance, Opacifica... OMIM:271630
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies ORPHA:2370
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Corneal opacity, Hyperlordosis,... ORPHA:577
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Adamantinoma
Hypercalcemia ORPHA:55881
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Impulsivity OMIM:605899
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Hyperactivity ORPHA:85288
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia, Attention deficit hyperactivity disorder OMIM:618878
Phenylketonuria
Anxiety, Cataract, Hyperactivity, Blue irides, Aggressive behavior, Irritability, Self-mutilation... OMIM:261600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Akinesia, Unsteady gait,... ORPHA:240094
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior ORPHA:75858
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal osteolysis, Ina... OMIM:166300
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Scoliosis OMIM:618362
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, De... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Opacification of the co... OMIM:230650
Sialidosis Type 2
Osteoporosis, Corneal opacity, Kyphosis, Ataxia ORPHA:87876
Ck Syndrome
Kyphosis, Hyperactivity, Hyperlordosis, Aggressive behavior, Scoliosis, Irritability, Abnormal co... OMIM:300831
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Lumbar h... OMIM:619467
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Spinocerebellar Ataxia Type 27
Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty walking ORPHA:98764
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Thoracic platyspondyly, Beaking of vertebral bodies, Corneal opacity, Coars... OMIM:618961
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Aggressive behavior, Myopic astigmatism, Att... OMIM:152950
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Gait disturbance, Keratocon... OMIM:614170
Timothy Syndrome
Hypocalcemia OMIM:601005
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Iris hypopigmentation, Broad-based... ORPHA:411515
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:619470
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Scoliosis OMIM:300434
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Gait ataxia, Emotional lability, Depr... ORPHA:98818
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Alpha-Mannosidosis, Adult Form
Osteopenia, Anxiety, Cataract, Corneal opacity, Ataxia, Depression ORPHA:309288
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Loss of ability to walk, Corneal opacity, Osteoporosis, Waddling gait ORPHA:2788
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Alpha-Mannosidosis
Kyphosis, Craniofacial hyperostosis, Cataract, Corneal opacity, Scoliosis ORPHA:61
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hyperactivity, Aggressive behavior OMIM:615541
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Scoliosis ORPHA:457260
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Sialidosis Type 1
Kyphosis, Abnormal form of the vertebral bodies, Cataract, Corneal opacity, Ataxia, Scoliosis, Ga... ORPHA:812
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Ck Syndrome
Hyperactivity, Aggressive behavior, Lumbar hyperlordosis, Irritability, Kyphoscoliosis ORPHA:251383
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Thoracic kyphosis OMIM:270200
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures ORPHA:289157
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea, Abnormality of bone mineral density ORPHA:2741
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Decreased circulating cerulop... ORPHA:48818
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Hyperactivity, Emotional lability, Self-mutilation, Keratit... OMIM:256800
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Akinesia ORPHA:98773
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Impulsivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Anxiety, Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Scoliosis OMIM:617773
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cataract, Corneal opacity, Gait ataxia, Scoliosis ORPHA:496790
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Mucopolysaccharidosis Type 4
Kyphosis, Corneal opacity, Hyperlordosis, Platyspondyly, Scoliosis, Gait disturbance, Reduced bon... ORPHA:582
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Parkinson Disease 17
Akinesia OMIM:614203
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Ataxia, Steatorrhea OMIM:212750
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Hurler-Scheie Syndrome
Corneal opacity, Abnormal vertebral morphology ORPHA:93476
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Opa... OMIM:601853
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tip-toe gait ORPHA:746
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Aggressive behavior, Opacification of... OMIM:310600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior, Unsteady gait,... ORPHA:228360
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Juvenile Sialidosis Type 2
Dysmetria, Abnormal form of the vertebral bodies, Loss of ability to walk, Cataract, Corneal opac... ORPHA:93399
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Scoliosis OMIM:300958
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Familial Dysautonomia
Heterochromia iridis, Corneal opacity, Ataxia, Abnormal pupil morphology, Scoliosis, Osteolysis, ... ORPHA:1764
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Limb ataxia OMIM:607454
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Scoliosis, Hump-shaped mound of bone in central an... OMIM:313400
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract, Osteopenia OMIM:616603
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Happy demeanor, Broad-based gait, Unsteady gait OMIM:617865
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Gm1 Gangliosidosis
Kyphosis, Abnormal form of the vertebral bodies, Corneal opacity, Hyperlordosis, Ataxia, Platyspo... ORPHA:354
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Vertebral compression fracture, Metatarsal osteolysis, Carpal osteolysis, Corneal opa... OMIM:259600
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Anterior beaking of lower thoracic vertebrae, Epiphyseal st... ORPHA:584
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:290
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Hypophosphatasia
Hypercalcemia ORPHA:436
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Mucolipidosis Type Iv
Corneal opacity, Ataxia, Gait disturbance ORPHA:578
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Scoliosis, Kyphoscoliosis ORPHA:391307
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Ovoid vertebral bodies, Osteopenia, Astigmatism, Platyspondyly, Lumbar hyperlo... OMIM:242900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Craniosynostosis, Aniridia, Developmental glaucoma ORPHA:1064
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Fragile X Syndrome
Self-biting, Hyperactivity, Scoliosis OMIM:300624
Corticobasal Syndrome
Akinesia, Gait disturbance ORPHA:454887
Pearson Syndrome
Hypokalemia, Hypocalcemia, Ataxia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia, Steatorrhea ORPHA:699
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Mucopolysaccharidosis Type 3
Abnormal form of the vertebral bodies, Disinhibition, Craniofacial hyperostosis, Cataract, Cornea... ORPHA:581
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Developmental glaucoma, Corneal opacity, Osteoporosis, Megalocornea ORPHA:2409
Wilson Disease
Kayser-Fleischer ring, Aggressive behavior, Hypersexuality, Depression, Difficulty walking ORPHA:905
Lamb-Shaffer Syndrome
Thoracic kyphosis, Hyperactivity, Ataxia, Scoliosis, Fused cervical vertebrae ORPHA:530983
Cystinosis
Corneal opacity, Rickets, Gait disturbance ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Scheie Syndrome
Corneal opacity OMIM:607016
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Kyphoscoliosis, Corneal opacity, Osteopenia OMIM:163200
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention deficit hyperactivi... ORPHA:1929
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Astigmatism, Inability to walk, Hyperactivity, Ataxia, Aggres... ORPHA:168491
Dermochondrocorneal Dystrophy
Irregular tarsal ossification, Anterior cortical cataract, Subepithelial corneal opacities, Corne... OMIM:221800
Mend Syndrome
Cataract, Kyphosis, Hyperactivity OMIM:300960
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait disturbance OMIM:614104
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Scoliosis, Iris hypopigmentation, ... ORPHA:98794
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Scoliosis, Irritability, De... ORPHA:449291
Cri-Du-Chat Syndrome
Anxiety, Cataract, Hyperactivity, Conspicuously happy disposition, Aggressive behavior, Scoliosis... OMIM:123450
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Aggressive behavior OMIM:252920
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Mucopolysaccharidosis, Type Vii
Kyphosis, Anterior beaking of lumbar vertebrae, Anterior beaking of lower thoracic vertebrae, Cor... OMIM:253220
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hurler-Scheie Syndrome
Scoliosis, Corneal opacity, Kyphosis OMIM:607015
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Craniosynostosis, Osteopenia, Anxiety, Cataract, Astigmatism, Corneal opaci... ORPHA:309282
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hyperalaninemia, Increased serum pyruvate, Akinesia OMIM:619147
Congenital Sialidosis Type 2
Dysmetria, Developmental cataract, Cataract, Corneal opacity, Ataxia ORPHA:93400
Zellweger Syndrome
Posterior embryotoxon, Epiphyseal stippling, Cataract, Corneal opacity, Brushfield spots ORPHA:912
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Mucopolysaccharidosis, Type Iva
Kyphosis, Ovoid vertebral bodies, Hyperlordosis, Osteoporosis, Platyspondyly, Scoliosis, Opacific... OMIM:253000
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Ataxia, Aggressive behavior, Scoliosis OMIM:618430
Mucopolysaccharidosis, Type Ivb
Kyphosis, Ovoid vertebral bodies, Hyperlordosis, Osteoporosis, Platyspondyly, Scoliosis, Opacific... OMIM:253010
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Ataxia, Gait ataxia, Dysdiadochokinesis ORPHA:247234
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate sexual behavior, Gait disturbanc... ORPHA:43
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Fucosidosis
Anterior beaking of lumbar vertebrae, Corneal opacity, Kyphosis ORPHA:349
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma, Platyspondyly OMIM:601356
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Incontinentia Pigmenti
Cataract, Corneal opacity, Scoliosis, Spina bifida occulta, Osteolysis, Gait disturbance, Keratit... ORPHA:464
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Astigmatism, Inability to walk, Hyperactivity, Ataxia, A... ORPHA:72
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Lumbar hyperlordosis, Spina bifida occulta, Iris coloboma OMIM:169550
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Anxiety, Astigmatism, Corneal opacity, Scoliosis, Gait disturbance, Attention deficit h... ORPHA:464311
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Inability to walk, Aggressive behavior, Inappropriate laughter, Ga... OMIM:103050
Al-Gazali Syndrome
Sclerocornea, Corneal opacity, Osteopenia OMIM:609465
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Craniosynostosis, Butterfly vertebrae OMIM:301056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Blue irides, Scoliosis, Progressive gait ataxia, Br... OMIM:105830
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia, Hypoplastic vertebral bodies OMIM:272200
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:95409
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Paroxysmal bursts of laughter ORPHA:228402
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Scoliosis OMIM:252900
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Falls, Akinesia ORPHA:240071
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hurler Syndrome
Cranial hyperostosis, Kyphosis, Corneal opacity, Calvarial hyperostosis, Opacification of the cor... OMIM:607014
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperopic astigmatism, Astigmatism, Hyperactivity, Inappropriate laugh... ORPHA:363686
Fish-Eye Disease
Corneal opacity ORPHA:79292
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion/affect behavior, Attention deficit hyperac... ORPHA:1942
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Anxiety, Astigmatism, Corneal opacity, Hyperactivity, Scoliosis, Gait disturbance ORPHA:464306
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Tyrosinemia Type 2
Corneal opacity, Ataxia ORPHA:28378
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ovoid vertebral bodies, Corneal opacity, Lens subluxation, Platyspondyly, Scoliosis, Ectopia pupi... ORPHA:85167
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Abnormal vertebral morphology, Hemivertebrae, Iris coloboma ORPHA:77298
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Osteoporosis, Inability to walk, Scoliosis, Bipolar affective disorder ORPHA:488632
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Scoliosis, Craniosynostosis, Hyperopic astigmatism OMIM:252600
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Athetosis, Ataxia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Increased circulating renin level, Hypercalcemia, Increased serum pro... OMIM:601678
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Unsteady gait, Emotional lability, Gait disturbance, Impulsivity ORPHA:35069
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Osteoporosis, Irritability, Kyphoscoliosis ORPHA:447980
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Hypophosphatemia, Difficulty walking, Increased circulating cortiso... ORPHA:249
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Platyspondyly ORPHA:1830
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Generalized bone demineralization OMIM:215250
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Hyperactivity, Bradykinesia, Gait ataxia, Emotional lability, Dysdiadochokinesis, Impu... OMIM:610217
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Osteopenia, Sagittal craniosynostosis, Beaking... ORPHA:536471
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Dysmetria, Corneal opacity, Athetosis, Osteoporosis, Scoliosi