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Gene: Ncald MGI:1196326

Gene Summary

Name:

neurocalcin delta

Synonyms:

D030020D09Rik, D15Ertd412e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased circulating sodium level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.52×10^-06
abnormal behavior	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.20×10^-06
increased circulating alkaline phosphatase level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.98×10^-06
irregularly shaped pupil	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.81×10^-08
decreased bone mineral density	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.43×10^-06
abnormal bone structure	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.53×10^-10
increased blood urea nitrogen level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.21×10^-07
increased circulating insulin level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.67×10^-05
decreased bone mineral content	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.78×10^-09
mydriasis	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.47×10^-10
decreased thigmotaxis	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.96×10^-06
decreased prepulse inhibition	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.88×10^-08
hyperactivity	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.48×10^-17
abnormal sleep behavior	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.14×10^-09
impaired pupillary reflex	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.16×10^-05
abnormal retina blood vessel morphology	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.53×10^-07
abnormal retina vasculature morphology	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.35×10^-06

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	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%

14 Images

View images

Combined SHIRPA and Dysmorphology

Images

2 Images

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Auditory Brain Stem Response

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

10 Images

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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.

Human diseases associated with Ncald (0 diseases)
Human diseases predicted to be associated with Ncald (642 diseases)

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	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	OMIM:618367
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Adrenal insufficiency, Decreased c...	ORPHA:427
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia	OMIM:618273
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re...	ORPHA:79474
Plague	Anorexia, Depression, Arthritis, Conjunctival hyperemia, Mydriasis	ORPHA:707
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Diabetes insipidus, Hypoglycemia, Optic atrophy, Panhypopituitar...	ORPHA:2162
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Partial agenesis of...	OMIM:210710
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ...	ORPHA:49041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Buphthalmos, Congen...	OMIM:613150
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ...	ORPHA:96125
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Mpi-Cdg	Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd...	OMIM:619895
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Hyperl...	ORPHA:3464
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypothyroidism, Leukocoria, Reduced bone mineral density	ORPHA:1556
Neurocutaneous Melanocytosis	Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Dandy-Walker malformation	ORPHA:2481
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Joint hypermob...	ORPHA:2714
Halperin-Birk Syndrome	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro...	OMIM:618651
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Joubert Syndrome 30	Gray matter heterotopia, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Tremor, Increased circul...	ORPHA:167
16P13.11 Microdeletion Syndrome	Cryptorchidism, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum...	ORPHA:261236
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Legionnaires Disease	Hyponatremia, Anorexia	ORPHA:549
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:201810
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar...	OMIM:175780
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria, Tonic pupil, Joint contracture of the hand, Slow pupillary...	ORPHA:90658
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Tremor, Depression, Pseudobulbar paralysis	ORPHA:79276
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Obesity	ORPHA:177907
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy, Delayed puberty	ORPHA:52
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub...	ORPHA:90794
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone se...	ORPHA:79473
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Keratitis, Puberty and gonadal disorders, Thyrotoxicosis with di...	ORPHA:525731
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age	OMIM:619869
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Pachygyria	OMIM:263520
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Delayed myelination, Large for gestational age	OMIM:300868
Insulin-Like Growth Factor I Deficiency	Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating gro...	OMIM:608747
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum lepti...	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyp...	OMIM:608594
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia	OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Polymic...	OMIM:619775
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive	OMIM:614098
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroid...	ORPHA:449291
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Helsmoortel-Van Der Aa Syndrome	Cryptorchidism, Obesity, Truncal obesity, Lateral ventricle dilatation, Failure to thrive, Ventri...	OMIM:615873
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:228308
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Periventricular heterotopia	OMIM:618974
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	ORPHA:89938
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C...	ORPHA:309246
Neu-Laxova Syndrome	Ventriculomegaly, Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal m...	ORPHA:2671
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga...	ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia	OMIM:602522
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Charcot-Marie-Tooth Disease Type 4C	Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Abnormal optic nerve morphology, Head...	ORPHA:99949
Chromosome 1P36 Deletion Syndrome, Distal	Delayed CNS myelination, Cryptorchidism, Hydrocephalus, Obesity, Lateral ventricle dilatation, Pa...	OMIM:607872
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu...	OMIM:618476
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypercholesterolemia, Decreased response to growth hormone stimulation test, A...	ORPHA:273
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Failure to thrive, Small for gestational age, Cryptorchidism, Gray matter...	OMIM:620024
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Optic atrophy, Type II diabetes mellitus, Depression	OMIM:604121
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased body weight	OMIM:609053
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy...	OMIM:180500
3C Syndrome	Hydrocephalus, Abnormality of neuronal migration, Dandy-Walker malformation, Ventriculomegaly	ORPHA:7
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Keratoconjunctivitis sicca, Emotional lability, Hypoinsul...	OMIM:616260
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:617822
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin...	OMIM:609152
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Narcolepsy, Optic atrophy, Depression, Head tremor	ORPHA:314404
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Colpocephaly, Ventriculomegaly, Periventricular heterotopia	ORPHA:261250
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting	OMIM:618314
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:2318
Facial Spasm	Anisocoria	OMIM:134300
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Adrenal insufficiency, Dysphagia	OMIM:615510
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Dysplastic corpus callosum, Cryptorchidism, Gray matter heterotopia, Colpocephaly, ...	OMIM:618820
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy...	ORPHA:2211
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Conjunctival icterus, Dysphagia, Glycosuria, Unconjugated hyperbilirubinemi...	ORPHA:447
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Simplified gyral pattern, Lateral ventr...	ORPHA:500150
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
6Q Terminal Deletion Syndrome	Failure to thrive, Periventricular heterotopia, Abnormality of neuronal migration, Obesity, Gray ...	ORPHA:75857
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu...	ORPHA:2126
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Cryptorchidism, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae	OMIM:615877
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacificat...	OMIM:256800
Acromelic Frontonasal Dysostosis	Encephalocele, Cryptorchidism, Choroid plexus cyst, Gray matter heterotopia, Periventricular nodu...	OMIM:603671
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Delayed CNS myelination	OMIM:300896
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Obesity	OMIM:619312
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Cryptorchidism, Simplified gyral pattern, Lobar holopros...	ORPHA:468631
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology, Obesity	ORPHA:163681
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Abnormal myelination	ORPHA:289266
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Hyperkalemia, Primary adrenal insuffic...	ORPHA:275761
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis	ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly	OMIM:608836
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:1493
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Small for gestational age, Cryptorchidism, Macrogyria, Colpocephaly, Pachygyri...	OMIM:614866
Bohring-Opitz Syndrome	Delayed peripheral myelination, Gray matter heterotopia, Failure to thrive, Agenesis of corpus ca...	OMIM:605039
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In...	ORPHA:508
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Alg11-Cdg	Gray matter heterotopia, Delayed myelination, Failure to thrive	ORPHA:280071
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99413
Turner Syndrome	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:881
Mosaic Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99228
Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99226
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Failure to thrive, Macrogyria, Abnormal myelination	ORPHA:280210
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation, Weight loss	ORPHA:2388
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia	OMIM:300624
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Impulsivity, Ag...	ORPHA:580
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:314679
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Abnormal repetitive mannerisms	OMIM:618653
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Chordee, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, CNS hypomyelination, Lateral ventricle dilatation, Failure to...	OMIM:619534
Wolf-Hirschhorn Syndrome	Vertebral fusion, Rieger anomaly, Precocious puberty, Abnormal sternal ossification, Ectopia pupi...	OMIM:194190
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:1454
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly	OMIM:301043
Orofaciodigital Syndrome Type 6	Bilateral cryptorchidism, Failure to thrive, Abnormality of neuronal migration, Hypothalamic hama...	ORPHA:2754
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ventriculomegaly	OMIM:617563
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Man1B1-Cdg	Truncal obesity, Periventricular heterotopia	ORPHA:397941
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Cryptorchidism	OMIM:305450
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Abnormal myelination	ORPHA:442835
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:192
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Periventricular heterotopia	OMIM:618870
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalami...	OMIM:311200
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Polydipsia, Increased serum bile acid concentration	ORPHA:731
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2063
Koolen-De Vries Syndrome	Small for gestational age, Cryptorchidism, Gray matter heterotopia, Failure to thrive, Ventriculo...	OMIM:610443
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Flexion contracture, Optic atrophy, Bruxism, M...	ORPHA:261552
Witteveen-Kolk Syndrome	Joint laxity, Hyperactivity, Cataract, Decreased response to growth hormone stimulation test, Agg...	OMIM:613406
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Colpocephaly, Chordee, Delayed myelination	ORPHA:477993
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Abnormal myelination, Failure to thrive, Slender build	ORPHA:1600
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cryptorchidism, Colpocephaly, Failure to thrive	OMIM:620083
Khan-Khan-Katsanis Syndrome	Colpocephaly, Failure to thrive, Ventriculomegaly	OMIM:618460
African Trypanosomiasis	Papilledema, Aggressive behavior, Keratitis, Abnormality of the endocrine system, Narcolepsy, Tre...	ORPHA:3385
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Retinal degeneration, Tremor, Optic atrophy, Phonic tics, Depression, Ch...	OMIM:234200
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Periventricular heterotopia, Cryptorchidism, Hydrocele testis, Lateral ventric...	ORPHA:261537
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus	OMIM:614250
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Cataract, Hypogonadotropic hypogonadism, E...	ORPHA:79318
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cryptorchidism, Subependymal cysts, Gray matter heterotopia, Failure to thrive, Polymicrogyria	OMIM:214100
Superficial Siderosis	Anisocoria	ORPHA:247245
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the cor...	OMIM:615948
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Cryptorchidism, Abnormality of neuronal migration, Failure to thrive, ...	ORPHA:464311
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:247200
Niemann-Pick Disease Type C	Limb dystonia, Axial dystonia, Dystonia, Aggressive behavior, Tremor, Narcolepsy, Depression, Dis...	ORPHA:646
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Sponastrime Dysplasia	Joint laxity, Cataract, Precocious puberty, Hypothyroidism, Delayed epiphyseal ossification, Gene...	ORPHA:93357
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:270400
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Cryptorchidism	ORPHA:531151
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Vascular Ehlers-Danlos Syndrome	Keratoconus, Osteoarthritis, Abnormal pupil morphology, Osteolysis, Joint hyperflexibility, Hypok...	ORPHA:286
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Partial agenesis...	ORPHA:434179
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Vici Syndrome	Gray matter heterotopia, Failure to thrive, Agenesis of corpus callosum	OMIM:242840
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Crypt...	OMIM:615546
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ...	OMIM:236680
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Pagod Syndrome	Encephalocele, Spina bifida, Meningocele, Abnormality of neuronal migration, Abnormal testis morp...	ORPHA:991
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Failure to thrive, Cryptorchidism	ORPHA:453499
Arima Syndrome	Dilated fourth ventricle, Gray matter heterotopia, Occipital meningocele	OMIM:243910
Narcolepsy 3	Narcolepsy	OMIM:609039
Narcolepsy 1	Narcolepsy	OMIM:161400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cryptorchidism, Delayed myelination, Obesity, Hydrocele te...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cryptorchidism, Delayed myelination, Obesity, Hydrocele te...	ORPHA:353277
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Fontaine Progeroid Syndrome	Small for gestational age, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Gray matte...	OMIM:612289
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Delayed myelination, Abnormal myelination, Failure to thrive, Ventricu...	ORPHA:404454
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum, Cryptorchidism	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum, Cryptorchidism	ORPHA:352665
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Genitopatellar Syndrome	Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum	OMIM:606170
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Cachexia	ORPHA:647
Degcags Syndrome	Small for gestational age, Cryptorchidism, Chordee, Abnormal myelination, Failure to thrive, Agen...	OMIM:619488
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Osteomyelitis, Conjunctivitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination, Abnormal myelination	ORPHA:466768
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Cockayne Syndrome Type 3	Demyelinating peripheral neuropathy, Abnormal myelination	ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination	ORPHA:309854
Proteus Syndrome	Macroorchidism, Gray matter heterotopia, Cachexia, Testicular neoplasm	ORPHA:744
Mowat-Wilson Syndrome	Periventricular heterotopia, Cryptorchidism, Hydrocele testis, Chordee, Oligomenorrhea, Decreased...	ORPHA:2152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ncald

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ncald.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.	Frontiers in molecular neuroscience (February 2019)	Ncald^{tm1.1(KOMP)Vlcg}	PMC6396726
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Ncald^{tm1.1(KOMP)Vlcg}	PMC5503261
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.	American journal of human genetics (January 2017)	Ncald^{tm1.1(KOMP)Vlcg}	PMC5294679

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ncald^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Ncald^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ncald MGI:1196326

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Sleep Wake

X-ray

X-ray

Adult LacZ

X-ray

Eye Morphology

Embryo LacZ

X-ray

X-ray

Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Human diseases caused by Ncald mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data