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Gene: Ncald MGI:1196326

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Gene Summary

Name:
neurocalcin delta
Synonyms:
D030020D09Rik,  D15Ertd412e

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.21×10-07
increased circulating insulin level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.67×10-05
decreased bone mineral content Ncaldtm1.1(KOMP)Vlcg HOM Early adult 4.78×10-09
mydriasis Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.77×10-10
decreased prepulse inhibition Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.91×10-08
decreased thigmotaxis Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.96×10-06
abnormal retina vasculature morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 9.23×10-05
hyperactivity Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.48×10-17
abnormal sleep behavior Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 2.14×10-09
impaired pupillary reflex Ncaldtm1.1(KOMP)Vlcg HOM Early adult 6.75×10-06
abnormal retina blood vessel morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.25×10-06
abnormal behavior Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.20×10-06
increased circulating sodium level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.52×10-06
decreased bone mineral density Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.43×10-06
irregularly shaped pupil Ncaldtm1.1(KOMP)Vlcg HOM Early adult 7.40×10-05
abnormal bone structure Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.53×10-10
increased circulating alkaline phosphatase level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.98×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Sleep Wake

Wake state (bmp file)

17 Images

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X-ray

XRay Images Forepaw

12 Images

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Adult LacZ

LacZ Images Section

40 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Slit Lamp

16 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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Eye Morphology

Images Ophthalmoscopy

9 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

10 Images

View images

Human diseases caused by Ncald mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Band Heterotopia
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