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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
abnormal bone structure	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.53×10^-10
abnormal retina blood vessel morphology	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.25×10^-06
abnormal retina vasculature morphology	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.23×10^-05
increased circulating alkaline phosphatase level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.98×10^-06
mydriasis	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.77×10^-10
decreased bone mineral density	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.43×10^-06
decreased prepulse inhibition	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.91×10^-08
decreased thigmotaxis	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.96×10^-06
increased circulating insulin level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.67×10^-05
irregularly shaped pupil	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.40×10^-05
increased blood urea nitrogen level	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.21×10^-07
impaired pupillary reflex	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.75×10^-06
hyperactivity	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.48×10^-17
decreased bone mineral content	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.78×10^-09
abnormal sleep behavior	Ncald^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.14×10^-09

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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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone marrow	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

9 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 (629 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	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic...	OMIM:600348
Chudley-Mccullough Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum...	OMIM:604213
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypoglycemia, ...	ORPHA:79299
Lissencephaly 1	Gray matter heterotopia, Ventriculomegaly, Agyria, Lissencephaly, Subcortical band heterotopia, P...	OMIM:607432
Lissencephaly 3	Gray matter heterotopia, Ventriculomegaly, Agyria, Lissencephaly, Pachygyria, Periventricular lam...	OMIM:611603
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern,...	ORPHA:1083
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Lissencephaly 4	Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria, Pachygyria	ORPHA:1084
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Decreased body weight, Lateral ventricle dilatation	OMIM:619420
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr...	ORPHA:101029
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Simplified gyral pattern, Delayed CNS myelination, Lateral ventricle dilatation	OMIM:617668
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Intellectual Developmental Disorder, Autosomal Dominant 33	Chorioretinal degeneration, Hyperactivity	OMIM:616311
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum	OMIM:300067
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Delayed myelination, Lateral ventricle dilatation, Simplified gyral pattern, Lissencephaly, Failu...	ORPHA:284417
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Optic atrophy, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Irri...	OMIM:259720
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr...	ORPHA:324575
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Abnormal myelination, Hydrocephalus, Dysgyria, Type II lissencephaly, Oc...	ORPHA:352682
Pontocerebellar Hypoplasia, Type 1A	Demyelinating peripheral neuropathy, Lateral ventricle dilatation, Degeneration of anterior horn ...	OMIM:607596
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Hypernatremia, Irritability, Polydipsia	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Irritability, Polydipsia, Nephrogenic diabetes insipidus	OMIM:125800
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, F...	ORPHA:35878
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis	ORPHA:247815
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly, Colpocephaly	ORPHA:2185
Leukoencephalopathy, Progressive, With Ovarian Failure	Premature ovarian insufficiency, Lateral ventricle dilatation	OMIM:615889
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Peripheral demyelination, Lateral ventricle dilatation	OMIM:221770
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Type I ...	ORPHA:276580
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Anxiety, Oculogyric crisis, Hyperkalemia, Agitation, Elevated c...	ORPHA:94093
Infant Botulism	Dysphagia, Keratoconjunctivitis sicca, Mydriasis, Hyponatremia	ORPHA:178478
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ...	OMIM:160565
Alg2-Cdg	Cerebral hypomyelination, Lateral ventricle dilatation	ORPHA:79326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free...	ORPHA:276575
Microphthalmia-Brain Atrophy Syndrome	Diffuse demyelination of the cerebral white matter, Lateral ventricle dilatation	ORPHA:77299
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid l...	OMIM:619489
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper...	OMIM:620085
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Hypoglycemia, Tremor,...	ORPHA:3008
Serotonin Syndrome	Mydriasis, Agitation, Tremor, Anxiety, Irritability, Restlessness	ORPHA:43116
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Failure to thrive, Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Retinitis Pigmentosa	Hyperinsulinemia, Optic atrophy, Hypogonadism, Type II diabetes mellitus, Abnormality of retinal ...	ORPHA:791
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type ...	OMIM:147630
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Aggressive behavior, Polyphagia, Hyperlipidemia, Hyperglycemia	ORPHA:329249
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Cach Syndrome	Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian insufficiency, Dysgyria, Pr...	ORPHA:135
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
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
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:618736
Glutaric Acidemia I	Delayed myelination, Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, Symmetrical ...	OMIM:231670
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Delayed CNS myelination, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ...	OMIM:615751
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Small for gestational age, Partial agenesis of th...	ORPHA:79243
Chronic Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia...	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia...	ORPHA:529799
Hypoglycemia, Leucine-Induced	Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia	OMIM:240800
Central Diabetes Insipidus	Diabetes insipidus, Depression, Anxiety, Hyponatremia, Polydipsia	ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, In...	OMIM:617872
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Intestinal Botulism	Mydriasis, Dysphagia	ORPHA:178481
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Agitation, Hyperinsulinemic hypoglycemia, Tremor, Rea...	ORPHA:276608
Toxin-Mediated Infectious Botulism	Mydriasis, Dysphagia	ORPHA:230800
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Craniosynostosis 6	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:616602
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap...	ORPHA:100924
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Delayed thelarch...	OMIM:616033
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination, Partial agenesis of the corpus callosum, Ventriculomegaly, Agenesis of corp...	ORPHA:85179
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia...	ORPHA:411593
Cherubism	Macular scar, Optic neuropathy, Marcus Gunn pupil	OMIM:118400
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Delayed CNS myelination, Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Wound Botulism	Mydriasis, Dysphagia	ORPHA:178475
Iatrogenic Botulism	Mydriasis, Dysphagia	ORPHA:254509
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Perisylvian polymicrogyria, Ventriculomegaly, Lateral ventricle dilatation	OMIM:618291
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Polyphagia	ORPHA:71529
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation	OMIM:600721
Arachnoid Cyst	Diminished motivation, Mydriasis, Inappropriate crying, Abnormality of the endocrine system, Depr...	ORPHA:2356
Phenylketonuria	Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Catara...	OMIM:261600
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Intellectual Developmental Disorder, Autosomal Dominant 56	Delayed CNS myelination, Lateral ventricle dilatation, Delayed myelination	OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination, Agenesis of corpus callosum	ORPHA:401830
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Type II l...	OMIM:613154
X-Linked Intellectual Disability, Wilson Type	Delayed myelination, Lateral ventricle dilatation	ORPHA:85290
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination, Agenesis of corpus callosum	ORPHA:401820
Glutamine Deficiency, Congenital	CNS hypomyelination, Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr...	ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Botulism	Mydriasis, Dysphagia	ORPHA:1267
Nephrogenic Diabetes Insipidus	Hypernatremia, Nephrogenic diabetes insipidus, Polydipsia	ORPHA:223
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Morm Syndrome	Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation	OMIM:619278
Paternal Uniparental Disomy Of Chromosome 1	Abnormal retinal morphology on macular OCT, Recurrent fractures, Increased blood urea nitrogen, D...	ORPHA:251004
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia...	ORPHA:101030
Foodborne Botulism	Mydriasis, Dysphagia	ORPHA:228371
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Webb-Dattani Syndrome	Diabetes insipidus, Hypernatremia, Decreased response to growth hormone stimulation test, Pituita...	OMIM:615926
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria	OMIM:617751
Alternating Hemiplegia Of Childhood	Aggressive behavior, Mydriasis, Choreoathetosis, Emotional lability, Impulsivity, Tremor, Dysphag...	ORPHA:2131
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ...	ORPHA:179494
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Cataract, Hyper...	ORPHA:3085
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus,...	OMIM:615219
Norrie Disease	Retinal fold, Aggressive behavior, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dys...	OMIM:310600
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Agitation, Abnormal circulating fatty-aci...	ORPHA:263455
Posttransplant Acute Limbic Encephalitis	Anxiety, Dystonia, Depression, Hyponatremia	ORPHA:163921
Hemimegalencephaly	Gray matter heterotopia, Ventriculomegaly, Pachygyria, Abnormal neuron morphology, Polymicrogyria	ORPHA:99802
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Pontocerebellar Hypoplasia, Type 13	Failure to thrive, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Increas...	OMIM:610600
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle...	ORPHA:3078
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation	OMIM:615378
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Falciform retinal fold, Po...	OMIM:133780
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Agyria, Delayed myelination, Lateral ventricle dilatation, Pachygyria	ORPHA:2148
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Scorpion Envenomation	Restlessness, Mydriasis, Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, ...	ORPHA:466677
Craniotubular Dysplasia, Ikegawa Type	Thin bony cortex, Optic nerve compression, Mydriasis, Optic atrophy, Optic neuropathy, Sclerosis ...	OMIM:619727
Familial Dysautonomia	Abnormal pupil morphology, Corneal erosion, Optic atrophy, Recurrent fractures, Osteolysis, Heter...	ORPHA:1764
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Ectopia lentis	OMIM:238700
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Hyperostosis, Retinal ...	ORPHA:2969
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A...	ORPHA:54
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Severe demyelination of the white matter	ORPHA:488635
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper...	OMIM:614736
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ...	OMIM:305390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Delayed CNS myelination, Partial agenesis ...	OMIM:617296
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hyperinsulinemia, Limb dystonia, Insulin resistance, Tremor, Hypertriglyceridemia	ORPHA:363400
Inhalational Botulism	Mydriasis	ORPHA:254504
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Hyperlipidemia, Hypertr...	OMIM:617885
Alstrom Syndrome	Hypothyroidism, Diabetes insipidus, Hyperuricemia, Hyperinsulinemia, Decreased response to growth...	OMIM:203800
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Ventriculomegaly, Agenesis of corpus callosum, Pachygyria	ORPHA:2512
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation	OMIM:256850
Lissencephaly 5	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi...	OMIM:615191
Plin1-Related Familial Partial Lipodystrophy	Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resis...	ORPHA:280356
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Hypoadrenocorticism, Familial	Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia	OMIM:240200
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Gonadotropin deficiency, Decreased response to growth hormone stimulation test,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Gonadotropin deficiency, Decreased response to growth hormone stimulation test,...	ORPHA:71526
Aniridia 1	Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Glucose i...	OMIM:106210
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation, Simplified gyral pattern, Lissenceph...	ORPHA:300570
Late-Onset Familial Hypoaldosteronism	Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Hyperkalemia,...	ORPHA:556037
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microliss...	OMIM:616212
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance...	OMIM:604367
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance	ORPHA:369873
Glycine Encephalopathy	Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness	OMIM:605899
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:66628
Slc35A2-Cdg	Delayed myelination, Failure to thrive in infancy, Dandy-Walker malformation, Lateral ventricle d...	ORPHA:356961
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hyperuricemia, Decreased circulating ACTH level, Decreased cir...	ORPHA:199299
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating renin level, Hyp...	OMIM:177735
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Tremor	OMIM:619470
Early-Onset Familial Hypoaldosteronism	Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Hyperkalemia,...	ORPHA:556030
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn...	ORPHA:209959
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Simplified gyral pattern, Agenesis of corpus callosum, Lateral ventricle dilatation, Dilated thir...	OMIM:619244
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia	OMIM:615508
Mody	Transient neonatal diabetes mellitus, Retinopathy, Abnormal circulating insulin concentration, Di...	ORPHA:552
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Cataract, Hypoglyce...	ORPHA:79237
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Delayed CNS myelination, Lateral ventricle dilatation	OMIM:620075
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Increased blood urea nitrogen, Diabetes mellitus, Hyponatremia, Hypomagnesemia	OMIM:613845
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Alexander Disease	Microcoria, Apathy	OMIM:203450
Alg8-Cdg	Retinopathy, Optic atrophy, Camptodactyly, Cataract, Hyponatremia	ORPHA:79325
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill...	OMIM:309300
Cocaine Intoxication	Agitation, Tremor, Mydriasis, Elevated circulating creatine kinase concentration	ORPHA:90068
Interstitial Nephritis, Karyomegalic	Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Cataract, Osteopenia, Hyponatremia, Dysphagia, Hypocalcemia	OMIM:617913
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Increased circulating renin level, Decreased circulating aldosterone level, Hyponat...	OMIM:203400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Lateral ventricle dilatation, Leukodystrophy, Hydrocephalus, Failure to ...	OMIM:619575
Estrogen Resistance Syndrome	Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr...	ORPHA:785
Symmetrical Thalamic Calcifications	Failure to thrive, Abnormality of neuronal migration	ORPHA:1314
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Addison Disease	Thymoma, Generalized bone demineralization, Hyperuricemia, Decreased circulating aldosterone leve...	ORPHA:85138
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Hyponatremia, Hyperactive renin-angiot...	OMIM:264350
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Precocious puberty in females, Increased C-peptide level, Hyperinsulinemia,...	ORPHA:528
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorticotropin de...	ORPHA:199296
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r...	ORPHA:3163
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Delayed CNS myelination, Polymicrogyria, Colpocephaly	OMIM:618731
Chromosome 6Q24-Q25 Deletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Failure to thrive in infancy, Ventriculomegaly, Lateral ventricle dil...	ORPHA:488627
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Hec Syndrome	Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology	ORPHA:2119
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Retinopathy, Decreased plasma carnitine, Hypophosphatemic rickets, H...	OMIM:219800
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Hyperkalemia, Increased cir...	ORPHA:171876
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Ventriculomegaly, Demyelinating peripheral neuropathy, Hydrocephalus...	OMIM:619833
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Osteope...	OMIM:615363
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Lateral ventricle dilatation	OMIM:619847
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating...	ORPHA:90791
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia, Optic atrophy, Hyponatremia	OMIM:608688
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Hyperkalemic Periodic Paralysis	Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio...	ORPHA:682
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,...	ORPHA:71212
Whipple Disease	Hypothyroidism, Arthritis, Insulin resistance, Uveitis, Depression, Hyponatremia, Polydipsia	ORPHA:3452
Aicardi Syndrome	Gray matter heterotopia, Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Cho...	OMIM:304050
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Insulin resistance	ORPHA:79084
Woolly Hair Nevus	Precocious puberty, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:616171
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum, Orbital encephal...	OMIM:164180
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating...	ORPHA:289548
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Increased LDL ...	OMIM:267700
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating...	ORPHA:168558
Cockayne Syndrome Type 1	Conjunctivitis, Foot joint contracture, Optic atrophy, Uveitis, Male hypogonadism, Increased bloo...	ORPHA:90321
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Neonatal hypoglycemia, Joint hypermobility, Increase...	OMIM:223360
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Hashimoto thyroiditis, Depression, Anxiety, Hyponatremia, Goiter	ORPHA:83601
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci...	ORPHA:231111
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L...	ORPHA:91495
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Failure to ...	ORPHA:397715
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Miosis	OMIM:156600
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen...	OMIM:207950
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Delayed myelination, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:572798
Hartsfield Syndrome	Diabetes insipidus, Hypernatremia, Craniosynostosis, Gonadotropin deficiency	OMIM:615465
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hyperinsulinemia, Increased serum testosterone level, F...	ORPHA:2298
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Arthritis, Elevated circulating C-reactive protein concentration, Hy...	OMIM:619381
Mandibuloacral Dysplasia	Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ...	ORPHA:2457
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Depression, Renal hypophosphatemia	ORPHA:94059
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Ventriculomegaly, Pachygyria	ORPHA:370980
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Hyponatremia, Hypercholesterolemia, Diabetes insipidus, Lentiglobus, Recurrent fract...	ORPHA:534
Acute Adrenal Insufficiency	Hyperuricemia, Decreased circulating aldosterone level, Increased circulating ACTH level, Decreas...	ORPHA:95409
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Gonadotropin deficiency, Narcolepsy, Hyperlipidemia, Hyponatremia, Abnorm...	ORPHA:293987
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Hyperglycemia, ...	OMIM:248370
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Hyponatremia	ORPHA:449285
Aicardi-Goutieres Syndrome 9	Weight loss, Failure to thrive, Delayed CNS myelination, Lateral ventricle dilatation	OMIM:619487
Cog5-Cdg	Delayed myelination, Lateral ventricle dilatation	ORPHA:263487
Brain Small Vessel Disease 2	Subcortical heterotopia, Ventriculomegaly, Polymicrogyria	OMIM:614483
Familial Glucocorticoid Deficiency	Precocious puberty, Decreased circulating aldosterone level, Ketotic hypoglycemia, Decreased circ...	ORPHA:361
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Ventriculomegaly, Agyria, Hydroc...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism, Hyperactivity, Bipolar affective disorder, Astigmatism, Attention deficit hyperac...	OMIM:619927
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Hyperglycemia, ...	OMIM:608612
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc...	OMIM:262190
Distal Monosomy 10Q	Spina bifida occulta, Failure to thrive, Lateral ventricle dilatation	ORPHA:96148
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Juvenile Nephropathic Cystinosis	Hypothyroidism, Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Corneal crystals,...	ORPHA:411634
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated circulating creatine kinase c...	OMIM:613327
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis...	ORPHA:89844
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Lateral ventricle dilatation	OMIM:611209
Kohlschutter-Tonz Syndrome-Like	Decreased body weight, Ventriculomegaly, Lateral ventricle dilatation, Overweight, Obesity	OMIM:619229
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Increased blood urea nitrogen, Elevated circulating creatinine concentration,...	OMIM:223900
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Obesity, Overweight, Lateral ventricle dilatation	ORPHA:2822
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Apathy, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia...	OMIM:610505
Herpes Simplex Virus Encephalitis	Alcoholism, Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Wolcott-Rallison Syndrome	Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Hyperbiliru...	ORPHA:1667
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Alg12-Cdg	Abnormal bone ossification, Camptodactyly, Hypocholesterolemia, Decreased serum insulin-like grow...	ORPHA:79324
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dysplastic corpus callosum, Large for gestational age, Lateral ventricle...	ORPHA:544488
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Type II lisse...	ORPHA:370959
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ...	OMIM:214700
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu...	ORPHA:230
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr...	ORPHA:35107
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation	ORPHA:565624
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia, Tremor, Dys...	OMIM:612716
Norrie Disease	Abnormal pupil morphology, Self-injurious behavior, Optic atrophy, Hypoplasia of the iris, Anteri...	ORPHA:649
Pyruvate Dehydrogenase E1-Beta Deficiency	Decreased body weight, Periventricular heterotopia, Ventriculomegaly, Pachygyria, Agenesis of cor...	ORPHA:255138
Mirage Syndrome	Radial club hand, Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hypergonadotropic hypogonadi...	OMIM:617053
Rabson-Mendenhall Syndrome	Hypothyroidism, Increased C-peptide level, Retinopathy, Precocious puberty, Increased serum testo...	ORPHA:769
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Choroid plexus cyst, Periventricular nodular heterotopia, Failure to thr...	OMIM:617201
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Apathy, Abnormal optic nerv...	ORPHA:863
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Irritability, Increased circulating ferritin concentration, Hypoprotei...	OMIM:603553
Mosaic Trisomy 1	Agenesis of corpus callosum, Lateral ventricle dilatation, Polymicrogyria	ORPHA:1692
Duane Retraction Syndrome	Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Camptodac...	ORPHA:233
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Joint stiffness, Ectopia pupillae	ORPHA:1885
Prader-Willi Syndrome	Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Self...	OMIM:176270
Cholera	Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia, Irritabi...	ORPHA:173
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Abnormality of neuronal migration, Ventriculomegaly, Small for gestati...	OMIM:300957
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Aggressive behavior, Abnormality of the adrenal glands, Dysphagia	ORPHA:289483
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Depression, Type II diabetes mellitus, Narcolepsy, Optic atrophy	OMIM:604121
Renal Hypoplasia, Bilateral	Glycosuria, Astigmatism, Hyperkalemia, Hyponatremia	ORPHA:97362
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Increased circulating ACTH level, Decreased circulating cortisol level, Hyperkalemia, Adrenal hyp...	ORPHA:90790
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ...	ORPHA:3077
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resistance, Unicameral bone c...	ORPHA:79086
Bainbridge-Ropers Syndrome	Failure to thrive, Lateral ventricle dilatation	OMIM:615485
Nephronophthisis 11	Anisocoria, Retinal degeneration, Polydipsia	OMIM:613550
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Optic atrophy, Narcolepsy, Cataract, Head tremor, Depression	ORPHA:314404
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Distal symphalangism, Hypergonadotropic hypogonadism, Elevated cir...	OMIM:154230
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo...	ORPHA:300373
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Hereditary Coproporphyria	Abnormal circulating porphyrin concentration, Hyponatremia	ORPHA:79273
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Apathy, Retinal cotton wool spot, Retinal neovascularization, Compensated hypothyr...	ORPHA:247691
Weaver Syndrome	Delayed CNS myelination, Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Familial Hypoaldosteronism	Decreased circulating aldosterone level, Adrenal insufficiency, Hyperkalemia, Increased circulati...	ORPHA:427
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Iris hypopigmentation, Happy demeanor, Inappropriate laughter, Polyphagia	ORPHA:411515
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating aldosterone level, Optic atrophy, Adrenal insufficiency, Decreased circulat...	OMIM:231550
Japanese Encephalitis	Stiff neck, Elbow flexion contracture, Choreoathetosis, Tremor, Hyponatremia, Inappropriate antid...	ORPHA:79139
Acute Intermittent Porphyria	Pseudobulbar paralysis, Tremor, Depression, Anxiety, Hyponatremia, Restlessness	ORPHA:79276
Porphyria Variegata	Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone secretion, Anxie...	ORPHA:79473
Holoprosencephaly	Diabetes insipidus, Retinopathy, Optic atrophy, Anterior hypopituitarism, Panhypopituitarism, Dia...	ORPHA:2162
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia, Ventriculomegaly	OMIM:618273
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Increased bone mineral density, Neoplasm of the ...	ORPHA:79474
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:293978
Plague	Mydriasis, Arthritis, Depression, Anxiety, Conjunctival hyperemia	ORPHA:707
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
Knobloch Syndrome 1	Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Slow pupillary light re...	OMIM:267750
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c...	ORPHA:91355
Gabriele-De Vries Syndrome	Delayed CNS myelination, Lateral ventricle dilatation	OMIM:617557
Shigellosis	Conjunctivitis, Arthritis, Uveitis, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia,...	ORPHA:810
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Basel-Vanagaite-Smirin-Yosef Syndrome	Agenesis of corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:464738
Transient Neonatal Diabetes Mellitus	Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M...	ORPHA:99886
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia	ORPHA:391673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis...	OMIM:613150
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia	ORPHA:79319
Triopia	Abnormal pupil morphology, Iris coloboma, Microcornea	ORPHA:3374
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:3464
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Oculo-Palato-Cerebral Syndrome	Leukocoria, Joint hypermobility, Remnants of the hyaloid vascular system, Cataract, Retinal detac...	ORPHA:2714
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Tremor, Elevated circulating creatinine concentration	OMIM:274150
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypothyroidism, Leukocoria, Reduced bone mineral density	ORPHA:1556
Holoprosencephaly 14	Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Ventriculomegaly, Hydr...	OMIM:619895
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Neurocutaneous Melanocytosis	Meningocele, Dandy-Walker malformation, Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2481
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gray matter heterotopia, Lateral ventricle dilatation, Abnormal cortical gyration, Hydrocephalus,...	OMIM:210710
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Self-mutilation, Blue irides	OMIM:615516
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Chédiak-Higashi Syndrome	Iris hypopigmentation, Abnormality of retinal pigmentation, Increased circulating ferritin concen...	ORPHA:167
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Agenesis of corpus callosum, Co...	OMIM:618651
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Aggressive behavior, Developmental cataract, Contracture of the proximal interphal...	OMIM:620141
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Peripapillary atrophy, Limb dystonia, Polycoria, Retinal arteriolar tortuosit...	OMIM:175780
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Joubert Syndrome 30	Gray matter heterotopia, Ventriculomegaly, Dandy-Walker malformation	OMIM:617622
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Graves Disease, Susceptibility To, 1	Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves...	OMIM:275000
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp...	OMIM:618183
Distal Monosomy 6P	Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the...	ORPHA:96125
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Alagille Syndrome	Abnormal pupil morphology, Corneal dystrophy, Keratoconus, Delayed puberty	ORPHA:52
Pediatric-Onset Graves Disease	Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Emotio...	ORPHA:525731
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Obesity, Lateral ventricle dilatation	ORPHA:177907
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Astigmatism, Cataract, Optic atrophy, Ectopia pupillae	OMIM:618727
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Pancreatic islet-cell hyperplas...	OMIM:246200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas...	ORPHA:90794
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Joint contracture of the hand, Slow pupillary light response, Tonic pu...	ORPHA:90658
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia	OMIM:613090
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypogonadism, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Atten...	ORPHA:73272
Citrullinemia Type Ii	Hyperactivity, Aggressive behavior, Irritability, Acute hyperammonemia, Delayed menarche, Tremor,...	ORPHA:247585
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Advanced ossification of carpal bones, Diabetes mellitus, Blue irides, Congenital ...	OMIM:614613
Neurocardiofaciodigital Syndrome	Small for gestational age, Failure to thrive, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Hepatocellular Carcinoma	Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypoglycemia, Hyp...	ORPHA:88673
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation	OMIM:263520
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Delayed myelination, Large for gestational age, Lateral ventricle dilatation	OMIM:300868
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261236
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Increased blood urea nitrogen, Hashimoto thyroiditis, Elevated circulating ...	ORPHA:49041
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi...	ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Bartter Syndrome Type 4	Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Emotional lability, Hypochlor...	ORPHA:89938
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia	OMIM:615960
Keppen-Lubinsky Syndrome	Failure to thrive, Lateral ventricle dilatation	OMIM:614098
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Steinert Myotonic Dystrophy	Secondary hyperparathyroidism, Posterior subcapsular cataract, Hypercholesterolemia, Non-medullar...	ORPHA:273
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Ventriculomegaly, Partial agenesis of the corpus callosum, Hypothalamic ...	OMIM:619775
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Ventriculomegaly	OMIM:618974
Legionnaires Disease	Hyponatremia	ORPHA:549
Neu-Laxova Syndrome	Abnormality of neuronal migration, Hypogonadism, Abnormal cortical gyration, Spina bifida, Ventri...	ORPHA:2671
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr...	OMIM:269700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus, Pachygyria, Agenesis of corpu...	ORPHA:228308
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Diabete...	OMIM:608594
Tenorio Syndrome	Keratoconjunctivitis sicca, Joint laxity, Emotional lability, Hypoglycemia, Osteopenia, Hypoinsul...	OMIM:616260
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Elevated circulating growth hormone concentration, Osteopenia, Decreased serum ins...	OMIM:608747
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hypoalbuminemia	OMIM:602579
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce...	ORPHA:90038
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive, Truncal obesity, Obesity	OMIM:615873
Joubert Syndrome	Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-...	OMIM:618476
Fanconi Anemia, Complementation Group I	Decreased body weight, Agenesis of corpus callosum, Colpocephaly	OMIM:609053
Angelman Syndrome	Precocious puberty in females, Hyperactivity, Aggressive behavior, Self-injurious behavior, Optic...	ORPHA:72
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia, Polydipsia	OMIM:602522
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, Hu...	OMIM:201750
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Anisocoria, Head tremor, Abnormal optic nerve morphology, Abnormal pupillary light...	ORPHA:99949
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Decreased response to growth hormone stimula...	OMIM:180500
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Hydrocephalus, Delayed CNS myelination, Pachygyria, Obesity, Agenes...	OMIM:607872
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hashimoto thyroiditis, Contracture of the ...	OMIM:618223
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypothyroidism, Hyperactivity, Aggressive behavior, Hyperthyroidism, Self-injurious behavior, Joi...	ORPHA:449291
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Persistent pupillary membrane, Microcornea	OMIM:257850
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
African Trypanosomiasis	Conjunctivitis, Aggressive behavior, Abnormality of circulating cortisol level, Iritis, Choreoath...	ORPHA:3385
3C Syndrome	Dandy-Walker malformation, Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	ORPHA:7
Oculoauricular Syndrome	Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula...	OMIM:612109
Revesz Syndrome	Leukocoria, Megalocornea, Exudative retinopathy	OMIM:268130
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia, Hyperactivity, Self-biting	OMIM:618314
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Lissencephaly, Dandy-Walker malformation	OMIM:617822
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Narcolepsy 7	Type II diabetes mellitus, Narcolepsy	OMIM:614250
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Abnormality of neuronal migration	ORPHA:2318
Niemann-Pick Disease Type C	Aggressive behavior, Limb dystonia, Bipolar affective disorder, Apathy, Disinhibition, Narcolepsy...	ORPHA:646
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Corneal scarring, Emotional lability, Keratitis, Opacification of t...	OMIM:256800
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Ventriculomegaly, Small for gestational age, CNS demyelination, Failure ...	OMIM:620024
Turner Syndrome Due To Structural X Chromosome Anomalies	Neck pterygia, High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes melli...	ORPHA:99413
Turner Syndrome	Neck pterygia, High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes melli...	ORPHA:881
Mosaic Monosomy X	Neck pterygia, High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes melli...	ORPHA:99228
Monosomy X	Neck pterygia, High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes melli...	ORPHA:99226
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res...	OMIM:151660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Simplified gyral pattern, Progressive ventriculom...	ORPHA:500150
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Solitary Fibrous Tumor/Hemangiopericytoma	Hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia, Reduced C-peptide level, Recurrent hypog...	ORPHA:2126
Liver Disease, Severe Congenital	Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, J...	OMIM:619991
X-Linked Creatine Transporter Deficiency	Hyperactivity, Abnormal circulating creatine concentration, Joint hyperflexibility, Athetosis, Dy...	ORPHA:52503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalu...	OMIM:615287
Facial Spasm	Anisocoria	OMIM:134300
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Ventriculomegaly, Colpocephaly	ORPHA:261250
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periventricular heterot...	ORPHA:75857
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Chordee, Streak ovary, Dysplastic cor...	OMIM:618820
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microcornea, Cataract, Ectopia pupillae, Sclerocornea	OMIM:615877
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Radio-Tartaglia Syndrome	Gray matter heterotopia, Obesity, Agenesis of corpus callosum	OMIM:619312
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Glycosuria, Decreased serum iron, Con...	ORPHA:447
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:617260
Congenital Disorder Of Glycosylation, Type Iim	Delayed CNS myelination, Lateral ventricle dilatation	OMIM:300896
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria	OMIM:180200
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Primary adrenal insufficiency, Hypercholesterolemia, Hyponatremia, Adrenal calcific...	ORPHA:275761
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hyperkalemia, Diabetes mellitus, Hyponatremia, Hypocalcemia	ORPHA:544482
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Adrenal insufficiency, Dysphagia	OMIM:615510
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:1493
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria	OMIM:608836
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Failure to thrive, Delayed peripheral myeli...	OMIM:605039
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Abnormal myelination	ORPHA:289266
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Ventriculomegaly, Choroid plexus cyst, Periventricular no...	OMIM:603671
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Obesity, Abnormality of neuronal migration	ORPHA:163681
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Insulin resistance, In...	ORPHA:508
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum	OMIM:618929
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Alg11-Cdg	Failure to thrive, Gray matter heterotopia, Delayed myelination	ORPHA:280071
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Lobar hol...	ORPHA:468631
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Small for gestational age, Macrogyria, Failure to thrive, Pachygyria, Agenesis of c...	OMIM:614866
Pelizaeus-Merzbacher Disease, Connatal Form	Abnormal myelination, Failure to thrive, Macrogyria, Cerebral hypomyelination	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
Hyperthyroidism, Nonautoimmune	Hyperactivity, Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Incr...	OMIM:609152
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, CNS hypomyel...	OMIM:619534
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Choreoacanthocytosis	Weight loss, Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation	ORPHA:2388
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:314679
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Narcolepsy 3	Narcolepsy	OMIM:609039
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ...	ORPHA:85327
Narcolepsy 1	Narcolepsy	OMIM:161400
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Peripheral hypomyelination	OMIM:618733
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:301043
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:1454
Witteveen-Kolk Syndrome	Hyperactivity, Aggressive behavior, Decreased response to growth hormone stimulation test, Type I...	OMIM:613406
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ventriculomegaly	OMIM:617563
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Mucopolysaccharidosis Type 2	Hyperactivity, Retinopathy, Aggressive behavior, Abnormal foveal morphology, Optic atrophy, Hip o...	ORPHA:580
Man1B1-Cdg	Periventricular heterotopia, Truncal obesity	ORPHA:397941
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:192
Orofaciodigital Syndrome Type 6	Failure to thrive, Hypothalamic hamartoma, Abnormality of neuronal migration	ORPHA:2754
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Abnormal myelination	ORPHA:442835
Wolf-Hirschhorn Syndrome	Vertebral fusion, Rieger anomaly, Precocious puberty, Radioulnar synostosis, Iris coloboma, Abnor...	OMIM:194190
Orofaciodigital Syndrome I	Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Hypothalami...	OMIM:311200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia, Ventriculomegaly	OMIM:618870
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Flexion contracture, Optic atrophy, Happy demeanor, Axenfeld anomaly, ...	ORPHA:261552
Autosomal Recessive Polycystic Kidney Disease	Increased serum bile acid concentration, Polydipsia, Hyponatremia	ORPHA:731
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Khan-Khan-Katsanis Syndrome	Failure to thrive, Ventriculomegaly, Colpocephaly	OMIM:618460
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Delayed myelination, Chordee, Colpocephaly	ORPHA:477993
Koolen-De Vries Syndrome	Small for gestational age, Failure to thrive, Gray matter heterotopia, Ventriculomegaly	OMIM:610443
Sponastrime Dysplasia	Hypothyroidism, Microcoria, Precocious puberty, Generalized joint laxity, Ivory epiphyses of the ...	ORPHA:93357
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Lateral ventricle dilatation, Failure to thrive, Chordee, Agenesis o...	ORPHA:261537
Monosomy 18Q	Slender build, Failure to thrive, Abnormal myelination, Hydrocephalus	ORPHA:1600
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic...	OMIM:601390
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Colpocephaly	OMIM:620083
Pmm2-Cdg	Hyperinsulinemia, Rod-cone dystrophy, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:79318
Superficial Siderosis	Anisocoria	ORPHA:247245
Acrodysostosis With Multiple Hormone Resistance	Hyperactivity, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypogona...	ORPHA:280651
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Tuberous Sclerosis Complex	Hyperactivity, Aggressive behavior, Self-injurious behavior, Parathyroid adenoma, Pancreatic endo...	ORPHA:805
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Peroxisome Biogenesis Disorder 1A (Zellweger)	Subependymal cysts, Failure to thrive, Gray matter heterotopia, Polymicrogyria	OMIM:214100
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the...	OMIM:615948
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Failure to thrive, Abnormality of neuronal migration, Ventriculomegaly	ORPHA:464311
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Failure to thrive, Pachygyria	OMIM:247200
Mowat-Wilson Syndrome	Happy demeanor, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae	OMIM:235730
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Hydrocephalus, Failure to thrive, Holoprosencephaly, Partial agenesi...	OMIM:270400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Familial Gestational Hyperthyroidism	Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Hand trem...	ORPHA:99819
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Hypokalemia, Osteolysis, Joint hyperflexibility, Keratoconus, Osteoart...	ORPHA:286
Alström Syndrome	Cone/cone-rod dystrophy, Posterior subcapsular cataract, Decreased circulating T4 concentration, ...	ORPHA:64
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Dandy-Walker m...	OMIM:236680
Vici Syndrome	Failure to thrive, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Dilated third ventricle, Periventricular heterotopia, Abnormal myelinat...	ORPHA:434179
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia	OMIM:615546
Arima Syndrome	Gray matter heterotopia, Dilated fourth ventricle, Occipital meningocele	OMIM:243910
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Gray matter heterotopia	ORPHA:453499
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Delayed myelination, Ventriculomegaly, Small for gestational age, Abnormal myelination, Failure t...	ORPHA:404454
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Small for gestational age, Hydrocephalus, F...	OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Failure to thrive, Abnormal lateral ventricle morphology, Obesity, Delayed myelination	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Failure to thrive, Abnormal lateral ventricle morphology, Obesity, Delayed myelination	ORPHA:353277
Genitopatellar Syndrome	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly	OMIM:606170
Nijmegen Breakage Syndrome	Cachexia, Abnormality of neuronal migration	ORPHA:647
Leukocyte Adhesion Deficiency	Conjunctivitis, Osteomyelitis, Coronal craniosynostosis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ...	ORPHA:98889
Degcags Syndrome	Ventriculomegaly, Small for gestational age, Abnormal myelination, Failure to thrive, Agenesis of...	OMIM:619488
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal myelination, Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination	ORPHA:466768
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
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	Gray matter heterotopia, Cachexia	ORPHA:744
Mowat-Wilson Syndrome	Decreased body weight, Periventricular heterotopia, Ventriculomegaly, Chordee, Oligomenorrhea, Ag...	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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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

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Gene: Ncald MGI:1196326

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Sleep Wake

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Adult LacZ

X-ray

Eye Morphology

Embryo LacZ

Eye Morphology

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 19.0 Data