Gene Summary

Name:
neurocalcin delta
Synonyms:
D030020D09Rik,  D15Ertd412e

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
mydriasis Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.47×10-10
hyperactivity Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.48×10-17
decreased bone mineral density Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.43×10-06
impaired pupillary reflex Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.16×10-05
decreased thigmotaxis Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.96×10-06
decreased bone mineral content Ncaldtm1.1(KOMP)Vlcg HOM Early adult 4.78×10-09
abnormal behavior Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.20×10-06
abnormal retina blood vessel morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.53×10-07
abnormal retina vasculature morphology Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 3.35×10-06
increased circulating alkaline phosphatase level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.98×10-06
decreased prepulse inhibition Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.88×10-08
abnormal sleep behavior Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 2.14×10-09
increased circulating sodium level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.52×10-06
irregularly shaped pupil Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 6.81×10-08
increased circulating insulin level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.67×10-05
abnormal bone structure Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.53×10-10
increased blood urea nitrogen level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.21×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland 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 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 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 50% (1 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 Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

Adult LacZ

LacZ Images Section

40 Images

Sleep Wake

Wake state (bmp file)

17 Images

Eye Morphology

Images Slit Lamp

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

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

10 Images

Human diseases caused by Ncald 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 Ncald by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric... OMIM:607432
Microlissencephaly
Subcortical heterotopia, Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral p... ORPHA:1083
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Lissencephaly, Simplified gyral pattern OMIM:614019
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Decreased body weight OMIM:619420
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Delayed CNS myelination, Simplified gyral pattern OMIM:617668
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Delayed myelination, Simplified gyral pattern, Lateral ventricle di... ORPHA:284417
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Irritabil... OMIM:259720
Infant Botulism
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis ORPHA:178478
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Lateral ventricle dilatation, Demyelinating peripheral neuro... OMIM:607596
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Abnormal myelination, ... ORPHA:352682
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Dys... ORPHA:3008
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Hypernatremia, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Irritability, Polydipsia, Hypernatremia OMIM:125800
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis ORPHA:247815
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Agitation, ... ORPHA:276580
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Peripheral demyelination OMIM:221770
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic... ORPHA:276575
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Myopathy, Tubular Aggregate, 1
Joint contracture, Flexion contracture, Elevated circulating creatine kinase concentration, Abnor... OMIM:160565
Alg2-Cdg
Cerebral hypomyelination, Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter ORPHA:77299
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Polyphagia OMIM:618406
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia OMIM:608097
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hypo... ORPHA:94093
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade... OMIM:147630
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Glutaric Acidemia I
Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelination, Lateral ven... OMIM:231670
Cach Syndrome
Premature ovarian insufficiency, Dysmyelinating leukodystrophy, Secondary amenorrhea, Primary ame... ORPHA:135
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Delayed CNS myelination, Lateral ventricle dilatation OMIM:619517
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fa... ORPHA:276608
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,... ORPHA:79243
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Serotonin Syndrome
Restlessness, Tremor, Irritability, Agitation, Mydriasis ORPHA:43116
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Delayed myelination ORPHA:85290
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Polydipsia, Hypernatremia, Anorexia ORPHA:223
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Wound Botulism
Mydriasis, Dysphagia ORPHA:178475
Iatrogenic Botulism
Mydriasis, Dysphagia ORPHA:254509
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr... ORPHA:276556
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Central Diabetes Insipidus
Hyponatremia, Anorexia, Depression, Polydipsia, Diabetes insipidus ORPHA:178029
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ... OMIM:616033
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Pachygyria, Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal ... OMIM:604317
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Delayed CNS myelination, Periventricular heterotopia OMIM:614105
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Abnormal ... ORPHA:85179
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Irritability, Decrea... OMIM:300539
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Perisylvian polymicrogyria, Spina bifida occulta, Ventriculomegaly OMIM:618291
Botulism
Mydriasis, Dysphagia ORPHA:1267
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Delayed CNS myelination OMIM:600721
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormal retinal morphology on macular OCT,... ORPHA:251004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Joubert Syndrome 3
Frontal polymicrogyria, Lateral ventricle dilatation, Enlarged fossa interpeduncularis OMIM:608629
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation OMIM:256850
Foodborne Botulism
Mydriasis, Dysphagia ORPHA:228371
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Abnormal myelination ORPHA:401830
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, CNS hypomyelination OMIM:610015
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Alternating Hemiplegia Of Childhood
Dystonia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, Choreoat... ORPHA:2131
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Delayed CNS myelination, Delayed myelination OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Abnormal myelination ORPHA:401820
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Morm Syndrome
Hyperactivity, Cataract, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Hyperphenylalaninem... OMIM:261600
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Arachnoid Cyst
Abnormality of the endocrine system, Depression, Irritability, Disinhibition, Mania, Mydriasis ORPHA:2356
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Ectopia lentis OMIM:238700
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Tremor, Hyperinsulinemia, Glycosuria, Agitation, P... ORPHA:263455
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration OMIM:615508
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria OMIM:617751
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Pachygyria, Agyria, Delayed myelination ORPHA:2148
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation OMIM:618606
Miller Fisher Syndrome
Anisocoria, Mydriasis, Dysphagia ORPHA:98919
Acalvaria
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida ORPHA:945
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly ORPHA:99802
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, ... ORPHA:3085
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Tremor, Insulin resistance, Hyperinsulinemia, Limb dystonia ORPHA:363400
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti... OMIM:617885
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m... ORPHA:3078
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal c... ORPHA:100924
Familial Dysautonomia
Hyponatremia, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, O... ORPHA:1764
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Severe demyelination of the white matter ORPHA:488635
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Miosis, Tremor, Glycosuria, Hypokale... ORPHA:466677
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:619244
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Hydrocephalus, Colpocephaly, Leukodystrophy, Failure to thrive, Ventricu... OMIM:616034
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Optic atrophy, Sclerosis of skull base, Optic nerve compression, Thin bony cort... OMIM:619727
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination, Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dila... OMIM:617296
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... ORPHA:2969
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Inhalational Botulism
Mydriasis ORPHA:254504
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Elbow flexion contracture, Optic atrophy, Abnormal re... OMIM:619470
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergona... OMIM:203800
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Depression ORPHA:163921
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Tremor, Agitation, Mania, Mydriasis ORPHA:90068
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ... ORPHA:300570
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Delayed CNS myelination OMIM:620075
Slc35A2-Cdg
Lateral ventricle dilatation, Failure to thrive in infancy, Delayed myelination, Dandy-Walker mal... ORPHA:356961
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Increa... ORPHA:85138
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Cataract, Optic atrophy, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of gala... ORPHA:79237
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Alg8-Cdg
Hyponatremia, Cataract, Optic atrophy, Camptodactyly, Retinopathy ORPHA:79325
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia OMIM:620195
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Deep anterior chamber, Mosaic corneal dystrop... OMIM:309300
Symmetrical Thalamic Calcifications
Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation, Small for gestational age OMIM:619847
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... ORPHA:785
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dand... OMIM:164180
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Delayed CNS myelination OMIM:618731
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin resistance, Bone ... ORPHA:528
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul... ORPHA:488627
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... OMIM:221900
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... ORPHA:3163
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Overweight, Hydrocephalus, Lateral ventricle dilatation, Leukodystrophy, Dilat... OMIM:619575
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Oral-pharyngeal dysphagia, Hypomagnesemia, Retinal pigment epith... OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Art... OMIM:619381
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Hypoglycemia OMIM:608688
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Delayed CNS myelination, Demyelinating peripheral neuropathy, Periventricular heterotopia, Hydroc... OMIM:619833
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia,... ORPHA:171876
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypot... OMIM:619927
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Trach... OMIM:620155
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Whipple Disease
Hyponatremia, Anorexia, Insulin resistance, Uveitis, Depression, Arthritis, Polydipsia, Hypothyro... ORPHA:3452
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... ORPHA:682
Aicardi Syndrome
Delayed CNS myelination, Spina bifida, Dilated third ventricle, Partial agenesis of the corpus ca... OMIM:304050
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:95409
Panhypophysitis
Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R... ORPHA:95513
Cockayne Syndrome Type 1
Cataract, Foot joint contracture, Tremor, Optic atrophy, Uveitis, Pigmentary retinopathy, Conjunc... ORPHA:90321
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... ORPHA:168558
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Failure to thrive, Meningocele, Lateral ventricle dila... ORPHA:397715
Orthostatic Hypotension 1
Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... OMIM:223360
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation, Delayed myelination ORPHA:263487
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Pseudobulbar paralysis, Neuromuscular dysphagia ORPHA:449285
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Hydrocephalus, Abnormal... ORPHA:899
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... OMIM:207950
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Delayed myelination, Ventriculomegaly ORPHA:572798
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglob... ORPHA:534
Hartsfield Syndrome
Hypernatremia, Gonadotropin deficiency, Diabetes insipidus, Craniosynostosis OMIM:615465
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin res... OMIM:613327
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:370980
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating leptin concentration, Osteoar... ORPHA:2298
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration OMIM:236795
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr... OMIM:614643
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Failure to thrive, Delayed CNS myelination, Weight loss OMIM:619487
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly OMIM:614483
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricl... ORPHA:544488
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Glyc... ORPHA:411634
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Osteopenia, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia, Flexion cont... OMIM:248370
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation ORPHA:565624
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Lateral ventricle dilatation, Failure to thrive in infancy OMIM:611209
Distal Deletion 10Q
Failure to thrive, Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gluco... OMIM:608612
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Alexander Disease
Microcoria OMIM:203450
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, Abnormality of neuronal migration ORPHA:1895
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality of neuronal mig... OMIM:300957
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Periventricular Nodular Heterotopia 7
Delayed CNS myelination, Failure to thrive, Cryptorchidism, Choroid plexus cyst, Gray matter hete... OMIM:617201
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Ventriculomegaly OMIM:619229
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Hypoalbu... ORPHA:247353
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Recurrent corneal erosions, Increased blood urea n... OMIM:223900
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... ORPHA:89844
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Gray matter h... ORPHA:370959
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Depression, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... OMIM:612716
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Overweight ORPHA:2822
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Alg12-Cdg
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Recurrent hypogly... ORPHA:79324
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin ... ORPHA:769
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Desmosterolosis
Failure to thrive, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal... ORPHA:35107
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Abnormal optic chiasm morphology, Enlarged pituitary... ORPHA:300373
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,... OMIM:617053
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Decreased body weight, Pachygyria, Agenesis of corpus callosum, Vent... ORPHA:255138
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Abnormality of the adrenal glands, Dysphagia, Aggressive behavior ORPHA:289483
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Weaver Syndrome
Delayed CNS myelination, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricu... OMIM:277590
Prader-Willi Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:176270
Japanese Encephalitis
Hyponatremia, Stiff neck, Abnormal pupillary light reflex, Anorexia, Tremor, Elbow flexion contra... ORPHA:79139
Nephronophthisis 11
Anisocoria, Polydipsia, Retinal degeneration OMIM:613550
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Isolated Ectopia Lentis
Ectopia pupillae, Ectopia lentis, Cataract, Joint stiffness ORPHA:1885
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum ORPHA:1692
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa... ORPHA:233
Shigellosis
Hyponatremia, Hypoglycemia, Anorexia, Abnormal blood ion concentration, Uveitis, Arthritis, Conju... ORPHA:810
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... ORPHA:173
Bainbridge-Ropers Syndrome
Cryptorchidism, Lateral ventricle dilatation, Failure to thrive OMIM:615485
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... OMIM:603553
Trichinellosis
Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritability, Abnormal optic ne... ORPHA:863
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremor, Optic... OMIM:610505
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormality of neuronal migration, Ventriculomegaly ORPHA:2772
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation, Delayed CNS myelination OMIM:617557
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Renal Hypoplasia, Bilateral
Hyponatremia, Astigmatism, Hyperkalemia, Glycosuria ORPHA:97362
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Contracture of the proximal ... OMIM:620141
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
46,Xy Sex Reversal 4
Distal symphalangism, Elevated circulating creatinine concentration, Hypergonadotropic hypogonadi... OMIM:154230
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... ORPHA:90790
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Optic atrophy, Anisocoria, Adrenocorticotropin receptor def... OMIM:231550
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Miosis, Anisocoria,... ORPHA:45358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebral hypomyelination, Lateral ventricle dilatation, Delayed CNS myelination, CNS hypomyelination