Gene Summary

Name:
neurocalcin delta
Synonyms:
D030020D09Rik,  D15Ertd412e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating sodium level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.97×10-07
abnormal retinal vasculature morphology Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 3.37×10-06
abnormal sleep behavior Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.97×10-09
abnormal bone structure Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.85×10-10
increased circulating alkaline phosphatase level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.18×10-05
increased blood urea nitrogen level Ncaldtm1.1(KOMP)Vlcg HOM Early adult 4.10×10-08
increased circulating insulin level Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 1.63×10-05
decreased body length Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.05×10-05
decreased bone mineral density Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.60×10-06
impaired pupillary reflex Ncaldtm1.1(KOMP)Vlcg HOM Early adult 1.20×10-05
irregularly shaped pupil Ncaldtm1.1(KOMP)Vlcg HOM Early adult 9.34×10-05
decreased bone mineral content Ncaldtm1.1(KOMP)Vlcg HOM Early adult 8.83×10-08
hyperactivity Ncaldtm1.1(KOMP)Vlcg HOM Early adult 4.79×10-17
decreased thigmotaxis Ncaldtm1.1(KOMP)Vlcg HOM   Early adult 3.16×10-06
mydriasis Ncaldtm1.1(KOMP)Vlcg HOM Early adult 2.55×10-10
abnormal behavior Ncaldtm1.1(KOMP)Vlcg HOM Early adult 3.78×10-06
abnormal retinal blood vessel morphology Ncaldtm1.1(KOMP)Vlcg HOM Early adult 8.38×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

Images Slit Lamp

16 Images

Adult LacZ

LacZ Images Section

40 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

Sleep Wake

Wake state (bmp file)

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Combined SHIRPA and Dysmorphology

Images

3 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
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Microcephaly 19, Primary, Autosomal Recessive
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive in in... OMIM:617800
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology... ORPHA:329228
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Ventriculomegaly,... OMIM:607432
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus c... OMIM:604213
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... OMIM:618709
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Mental Retardation, Autosomal Recessive 60
Microcephaly, Delayed myelination, Small for gestational age OMIM:617432
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Failure to thrive, Periventricula... OMIM:608097
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Abnormal circulating phytanic acid concentration, Limb a... ORPHA:247815
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymic... OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria ORPHA:1084
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Recurrent hypo... ORPHA:79299
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Abnorm... ORPHA:352682
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300864
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly, Delayed myelination OMIM:618185
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure... ORPHA:284417
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular ribbo... OMIM:618677
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed myelination, Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of later... OMIM:617296
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter, Microcephaly, Diffus... ORPHA:77299
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Incre... ORPHA:3008
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Bilateral Striopallidodentate Calcinosis
Microcephaly, Ventriculomegaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination ORPHA:401840
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Irritability, Hypoglycemia OMIM:240800
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Primary amenorrhea, Dysgyria, Secondary amenorrhea, Mi... ORPHA:135
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral... ORPHA:99802
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypergon... ORPHA:95613
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Hyperinsulinemic hypoglycemia, Glucose intolerance, Developmental glaucom... OMIM:147630
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Abnormal myelination, Agenesis of co... ORPHA:85179
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal pupil morphology OMIM:160565
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Pachygyria, Delayed myelination, Ventriculomegaly, Microcephaly OMIM:617613
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Delayed CNS myelination, Dila... OMIM:600721
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Delayed myelinati... ORPHA:2148
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed puberty OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentra... ORPHA:94093
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hyperinsulinemia, Cataract, Abnormal retinal va... ORPHA:791
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Irritability, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability, Nephrogenic diabetes insipidus OMIM:125800
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca, Hyponatremia ORPHA:178478
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Failure to thrive, Congenital intracerebral calc... OMIM:236795
Central Diabetes Insipidus
Lethargy, Depression, Hyponatremia, Anxiety, Diabetes insipidus ORPHA:178029
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529799
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly, Delayed myelination OMIM:617391
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Failure to thrive, Microcephaly, Dand... OMIM:618606
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketo... ORPHA:276608
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, CNS hypomyelination, Subependymal cysts, Dilation of lateral v... OMIM:610015
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Slc35A2-Cdg
Delayed myelination, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal c... ORPHA:356961
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Delayed myelination, Dilation of lateral ventricles ORPHA:85290
Familial Dysautonomia
Osteolysis, Heterochromia iridis, Corneal erosion, Gait disturbance, Recurrent fractures, Hyponat... ORPHA:1764
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Delayed myelination, Dilatio... OMIM:231670
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Serotonin Syndrome
Tremor, Irritability, Mydriasis, Anxiety ORPHA:43116
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Lissencephaly 8
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal myelination, Polymicrogyria, Microc... OMIM:617255
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Severe X-Linked Intellectual Disability, Gustavson Type
Dilation of lateral ventricles, Dilated fourth ventricle, Small for gestational age, Microcephaly... ORPHA:3078
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Depression, Apathy, Difficulty walking, Hypon... ORPHA:100924
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Insulinoma
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neop... ORPHA:97279
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Webb-Dattani Syndrome
Hypernatremia, Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Di... OMIM:615926
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperpla... ORPHA:276556
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Severe demyelination of... ORPHA:488635
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating ... OMIM:615219
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Failure to t... ORPHA:488627
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Hypoplasia of the frontal lobes, Microceph... ORPHA:2512
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Irritability OMIM:300539
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Hypertriglyceridemia, Limb dys... ORPHA:363400
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal... ORPHA:263455
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Decr... OMIM:610600
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Brain Small Vessel Disease 2
Porencephalic cyst, Ventriculomegaly, Subcortical heterotopia, Polymicrogyria, Schizencephaly OMIM:614483
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cataract, ... ORPHA:3085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Alternating Hemiplegia Of Childhood
Tremor, Dystonia, Aggressive behavior, Ataxia, Emotional lability, Impulsivity, Mydriasis ORPHA:2131
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Wound Botulism
Mydriasis ORPHA:178475
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Iatrogenic Botulism
Mydriasis ORPHA:254509
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Scorpion Envenomation
Tremor, Increased circulating creatine kinase MB isoform, Ataxia, Glycosuria, Increased circulati... ORPHA:466677
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Abnormal cerebral white matter morphology,... ORPHA:370980
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Estrogen Resistance
Glucose intolerance, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Inhalational Botulism
Mydriasis ORPHA:254504
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity OMIM:605899
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Depression, Hypothyroidism, Hyponatremia, Hashimoto thyroiditis, Anxiety ORPHA:83601
Proteus-Like Syndrome
Heterochromia iridis, Hyperostosis, Cataract, Abnormality of the parathyroid gland, Retinal detac... ORPHA:2969
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Ventriculomegaly, An... OMIM:615287
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Botulism
Mydriasis ORPHA:1267
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Adrenocorticotropin deficient adrenal insufficiency, Decreased... ORPHA:199299
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Recu... ORPHA:251004
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Wars2-Related Combined Oxidative Phosphorylation Defect
Delayed myelination, Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral... ORPHA:572798
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Nephrogenic Diabetes Insipidus
Hypernatremia, Nephrogenic diabetes insipidus ORPHA:223
Alstrom Syndrome
Hyperinsulinemia, Pigmentary retinopathy, Multinodular goiter, Hypergonadotropic hypogonadism, Hy... OMIM:203800
Foodborne Botulism
Mydriasis ORPHA:228371
Immunodeficiency 8
Hyperactivity OMIM:615401
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Hyperkalemia, Precocious puberty OMIM:614736
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mell... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Increased serum serotonin, Hyperactivity ORPHA:85288
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Pol... OMIM:616212
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556037
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Recurrent fractures, Re... OMIM:133780
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Delayed CNS myelination, Choroid plexus cyst, ... OMIM:304050
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, ... OMIM:106210
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia OMIM:240200
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556030
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Hyperaldos... OMIM:177735
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:397715
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, Aggressive behavior, Flexion contracture, Hip contracture, Knee flexion c... OMIM:616809
Hyperkalemic Periodic Paralysis
Gait disturbance, Flexion contracture, Hyponatremia, Hypokalemia, Elevated circulating creatine k... ORPHA:682
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neona... ORPHA:71212
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Increased blood urea nitrogen, Pigmentary retinopathy, Difficulty walk... ORPHA:90321
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly, Delayed CNS myelination OMIM:618731
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Cog5-Cdg
Delayed myelination, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atrophy, Dilat... ORPHA:263487
Short Syndrome
Insulin resistance, Joint hyperflexibility, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:3163
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly,... ORPHA:397951
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Bone cyst, Hypertriglyceridemia, Incr... ORPHA:528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior ORPHA:329249
Distal Monosomy 10Q
Cavum septum pellucidum, Failure to thrive, Spina bifida occulta, Microcephaly, Dilation of later... ORPHA:96148
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Pseudohypoaldosteronism, ... OMIM:264350
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Hartsfield Syndrome
Hypernatremia, Craniosynostosis, Gonadotropin deficiency, Diabetes insipidus OMIM:615465
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primar... ORPHA:171876
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Hyperprolinemia OMIM:239500
Addison Disease
Androgen insufficiency, Generalized bone demineralization, Adrenal hypoplasia, Hypoparathyroidism... ORPHA:85138
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology ORPHA:2119
Estrogen Resistance Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormality of neuronal migration, T... OMIM:300957
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Whipple Disease
Depression, Insulin resistance, Hypothyroidism, Uveitis, Hyponatremia, Ataxia, Arthritis ORPHA:3452
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uveitis, Vitreoretinop... OMIM:193235
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Tremor, Mydriasis ORPHA:90068
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hypertriglyceridemia, Hyperactivity OMIM:615924
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Neonatal hypoglycemia... ORPHA:199296
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Elevated circulating luteinizing hormone level, Decreased circulating androgen conc... ORPHA:289548
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Elevated circulating luteinizing hormone level, Decreased circulating androgen conc... ORPHA:168558
Walker-Warburg Syndrome
Pachygyria, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation,... ORPHA:899
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Kohlschutter-Tonz Syndrome-Like
Overweight, Ventriculomegaly, Decreased body weight, Secondary microcephaly, Microcephaly, Dilati... OMIM:619229
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insufficiency, Hyponatr... OMIM:300200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Diabetes mellitus, Hyponatremia, Hyperuricemia OMIM:613845
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ve... OMIM:614643
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Chorioretinal dysplasia, Corneal opacity, Delayed puberty, Joint stiffness,... ORPHA:534
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Depression, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuronal migration OMIM:608840
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, Abnormality of neuronal migration ORPHA:1895
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Decreased corneal reflex, Elevated circulating creatinine concentr... OMIM:223900
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Wolcott-Rallison Syndrome
Difficulty walking, Hypothyroidism, Central hypothyroidism, Hyperbilirubinemia, Hyponatremia, Neo... ORPHA:1667
Familial Hypoaldosteronism
Lethargy, Hyponatremia, Increased circulating renin level, Adrenal insufficiency, Decreased circu... ORPHA:427
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Anisocoria, Difficulty walking, Gait disturbance, Tonic pupil, Slow pupillary ... ORPHA:90658
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Abnormality of neuronal migration ORPHA:2772
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly... OMIM:603671
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Hypokalemia... ORPHA:173
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Ven... OMIM:618476
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Pigmentary retinopathy, Rickets, Hypophosphatemic ... OMIM:219800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperinsulinemia, Insulin resistance, Flexion contracture, Hypertriglyceridemia, El... OMIM:613327
Ck Syndrome
Joint hypermobility, Aggressive behavior, Abnormal cortical bone morphology, Irritability, Hypera... OMIM:300831
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Abnormality of neuronal mi... ORPHA:35107
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy, Ataxia, Depression OMIM:604121
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Gray m... OMIM:164180
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Duane Retraction Syndrome
Aniridia, Central heterochromia, Chorioretinal coloboma, Optic disc hypoplasia, Camptodactyly, Ir... ORPHA:233
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait, Happy dem... ORPHA:411515
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Trichinellosis
Lethargy, Anisocoria, Apathy, Central retinal artery occlusion, Abnormality of the optic nerve, A... ORPHA:863
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Decreased circulating cortisol level, Ataxia, Decreased circulating aldosterone level... OMIM:231550
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Necrotizing Enterocolitis
Hyperglycemia, Lethargy, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Depression, Head tremor, Resting tremor, Ataxia, Cataract, Optic atrophy ORPHA:314404
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia OMIM:214700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Aggressive behavior, Abnormal pupillary light reflex, Depression, Premature adrenarch... ORPHA:293987
Prader-Willi Syndrome
Osteoporosis, Iris hypopigmentation, Hyperinsulinemia, Self-injurious behavior, Adrenal insuffici... OMIM:176270
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mirage Syndrome
Radial club hand, Hypergonadotropic hypogonadism, Hyponatremia, Hypoglycemia, Adrenal insufficien... OMIM:617053
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Iris hypopigmentation, Hypoproteinemia, Abnormality... ORPHA:167
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Elevated circulating creatinine con... ORPHA:411634
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Abnormal myelination, Primary microcephaly, Small for gestatio... ORPHA:289266
Plague
Depression, Arthritis, Unsteady gait, Mydriasis, Anxiety, Conjunctival hyperemia ORPHA:707
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Hypogly... ORPHA:90790
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Holoprosencephaly
Chorioretinal coloboma, Panhypopituitarism, Dystonia, Joint hyperflexibility, Hyponatremia, Iris ... ORPHA:2162
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Joint stiffness, Ectopia pupillae ORPHA:1885
Asparagine Synthetase Deficiency
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Fai... OMIM:615574
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Japanese Encephalitis
Pill-rolling tremor, Tremor, Dystonia, Abnormal pupillary light reflex, Hyponatremia, Opisthotonu... ORPHA:79139
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Porphyria Variegata
Anxiety, Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic h... ORPHA:79473
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Obesity, Cerebral cortical atrophy, Hypogonadotropic hypogonadism,... ORPHA:177907
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Hyperactivity, Blue irides OMIM:615516
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular heterotopia OMIM:618974
Shigellosis
Uveitis, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Conjunctivitis, Corneal ul... ORPHA:810
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Ventriculomegaly, Abnormality of neuronal mig... ORPHA:2671
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Depression, Apathy, Elevated circulating creatinine concentration, Re... ORPHA:247691
Hyperlysinemia, Type I
Ectopia lentis, Hyperlysinemia, Hyperactivity OMIM:238700
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Alg11-Cdg
Delayed myelination, Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral wh... ORPHA:280071
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Failure to thrive, Agenesis of corpu... OMIM:618651
Autosomal Recessive Spastic Paraplegia Type 57