banner
Genes Phenotypes Help, News, Blog

Gene: Rsph9 MGI:1922814

Log in to follow

Gene Summary

Name:
radial spoke head 9 homolog (Chlamydomonas)
Synonyms:
1700027N10Rik

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
abnormal behavior Rsph9tm1.1(KOMP)Vlcg HET Early adult 4.85×10-06
preweaning lethality, incomplete penetrance Rsph9tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased thigmotaxis Rsph9tm1.1(KOMP)Vlcg HET Early adult 3.58×10-06
hyperactivity Rsph9tm1.1(KOMP)Vlcg HET Early adult 1.28×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Dorso Ventral Orientation

14 Images

View images
Eye Morphology

Images Slit Lamp

4 Images

View images
Adult LacZ

LacZ Images Section

20 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images

Human diseases caused by Rsph9 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.

The table below shows human diseases associated to Rsph9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic sinusitis, Chr... OMIM:612650
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic... ORPHA:244

The table below shows human diseases predicted to be associated to Rsph9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Atypical Teratoid Rhabdoid Tumor
Irritability, Apathy, Hydrocephalus, Macrocephaly, Muscle weakness ORPHA:99966
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Skin rash, Microcephaly, Lethargy, Hydrocephalus ORPHA:26
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Ventriculomegaly, Astrocytosis, Macrocephaly OMIM:611087
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615938
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615937
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Agenesis of corpus callosum, Microcephaly, Lethargy, Growth delay OMIM:274270
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Depression, Akinetic mutism, Astrocytosis, Emotional labilit... ORPHA:282166
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:618709
Progressive Multifocal Leukoencephalopathy
Oculomotor nerve palsy, Decreased proportion of CD8-positive T cells, Abnormal astrocyte morpholo... ORPHA:217260
Leukoencephalopathy With Vanishing White Matter 1
Cessation of head growth, Emotional lability, Lethargy, Cerebral hypomyelination, CNS demyelinati... OMIM:603896
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Short stature, Growth delay OMIM:614019
Pelizaeus-Merzbacher Disease
Depression, Abnormal CNS myelination, Failure to thrive, CNS hypomyelination, Sudanophilic leukod... OMIM:312080
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Sporadic Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Akinetic mutism, Astrocytosis, Gliosis, Recurrent aspiration... ORPHA:204
Behavioral Variant Of Frontotemporal Dementia
Abulia, Astrocytosis, Irritability, Apathy, Emotional blunting ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Neonatal death, Mild fetal ventriculomegaly, Lethargy, Small for ges... OMIM:610498
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly, Short s... OMIM:303350
Central Neurocytoma
Lethargy, Abnormal lateral ventricle morphology, Depression, Hydrocephalus ORPHA:73256
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:604213
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... OMIM:301082
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Leukodystrophy, Increased CSF lactate, Irritability, Microcephaly, Lethargy, P... OMIM:618226
Alg13-Cdg
Poor head control, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Activated Pi3K-Delta Syndrome
Pneumonia, Failure to thrive, Recurrent otitis media, Decreased circulating antibody level, Splen... ORPHA:397596
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Inflammato... ORPHA:229717
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Increased CSF lactate, Agenesis of corpus callosum, Microcephaly, Lethargy, Sma... OMIM:312170
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Microcephaly, Delayed CNS myelination, Hydrocephalus, Macrocephaly OMIM:300884
Gaba-Transaminase Deficiency
Lethargy, Retrognathia, Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Progressive Non-Fluent Aphasia
Astrocytosis, Depression ORPHA:100070
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Increased CSF lactate, Lethargy, Distal muscle weakness, Muscle weakness OMIM:613710
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardat... ORPHA:2169
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Leukodystrophy, Increased CSF lactate, Intrauterine growth r... OMIM:616034
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Familial Infantile Bilateral Striatal Necrosis
Upper limb muscle weakness, Failure to thrive, Lower limb muscle weakness, Astrocytosis, Basal ga... ORPHA:225154
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Delayed CNS myelination, Hydrocephalus, Thrombocytopenia, Anemia, Pa... OMIM:619302
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth retardation, Obe... ORPHA:54595
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Duplication Of The Pituitary Gland
Retrognathia, Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Micro... ORPHA:314621
Severe Canavan Disease
Poor head control, Lethargy, Irritability, Macrocephaly ORPHA:314911
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Glut1 Deficiency Syndrome 1
Secondary microcephaly, Paroxysmal lethargy, Lethargy, Hypoglycorrhachia OMIM:606777
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Delayed CNS myelination, Hydrocephalus, Thrombocytopenia, Chronic ne... OMIM:619301
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Ventriculomegaly, Agenesis of corpus callosum, Partial agenesis of the corpus callosum... ORPHA:85179
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Skin rash, Agam... ORPHA:47
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Herpes simplex encephalitis OMIM:613002
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Lethargy, Failure to thrive, Intrauterine growth retardation ORPHA:26792
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg... OMIM:226990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Apathy, Astrocytosis OMIM:600795
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Increased CSF protein concentration, Granuloma, Oculom... ORPHA:68
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Increased CSF lactate, Microcephaly, Lethargy, Progressive microcephaly, Poor ... OMIM:611523
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Lower limb muscle weakness, Obesity, Emotiona... ORPHA:2822
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Leukodystrophy, Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardati... OMIM:610333
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy, Small for gestational age OMIM:617065
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Sideroblastic anemia, Lethargy, Respiratory insufficiency due to muscle weakne... OMIM:613561
Hypothyroidism, Congenital, Nongoitrous, 7
Short stature, Lethargy, Growth delay OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy, Increased CSF lactate, Ophthalmoplegia, Lethargy, Macrocephaly OMIM:618225
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Hydrocephalus, Small for gestational age, Muscle weakness OMIM:618302
Pallister-Hall-Like Syndrome
Glioma, Occipital encephalocele, Micrognathia, Microcephaly, Hypothalamic hamartoma, Hydrocephalu... OMIM:241800
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinus... ORPHA:33110
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive, Macrocephaly ORPHA:250994
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Ventriculomegaly, Failure to thrive OMIM:618228
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Macro... OMIM:600348
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Dystonia 30
Hypothalamic hamartoma, Bipolar affective disorder OMIM:619291
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:615294
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus ORPHA:1008
Alexander Disease
Increased CSF protein concentration, Progressive macrocephaly, Diffuse demyelination of the cereb... OMIM:203450
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy, Progressive microcephaly, Hypoglycorrhachia ORPHA:71277
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Microcephaly, Intercostal muscle weakness, Demyelinating peripheral... OMIM:607596
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay, Severe demy... ORPHA:488635
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic sinusitis, Chr... OMIM:612650
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,... OMIM:242860
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Respiratory insufficiency due to ... OMIM:615504
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Immotile cilia, Chronic sinusitis, Chronic rhinitis, Absent frontal si... OMIM:244400
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania... ORPHA:306741
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Ventriculomegaly, Small for gestational age, Lateral ventricle di... ORPHA:79243
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Panhypogammaglobuli... ORPHA:572
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Cach Syndrome
Lateral ventricle dilatation, Hepatosplenomegaly, Intrauterine growth retardation, Irritability, ... ORPHA:135
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Immotile cilia, Chronic... OMIM:616481
Developmental And Epileptic Encephalopathy 92
Secondary microcephaly, Lethargy OMIM:617829
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Abnormal ciliary motility, Sinusitis, Absent/shortened outer dynein arms, Ab... OMIM:610852
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Dihydrolipoamide Dehydrogenase Deficiency
Increased CSF isoleucine concentration, Increased CSF valine concentration, Increased CSF leucine... OMIM:246900
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Macrocephaly ORPHA:2185
Fragile X Syndrome
Macrocephaly, Otitis media, Irritability, Sinusitis, Mandibular prognathia, Chronic otitis media ORPHA:908
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Microcephaly, Hy... ORPHA:858
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Micrognathia, Irritability,... OMIM:619833
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Depression, Mandibular prognathia, Hydrocephalus, Macrocephaly OMIM:248000
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Macrocephaly OMIM:618929
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Ventriculomegaly, Increased CSF lactate, Lethargy, Gliosis, Basal ganglia gliosis OMIM:604377
Ciliary Dyskinesia, Primary, 50
Absent inner dynein arms, Short sperm flagella, Chronic sinusitis, Coiled sperm flagella OMIM:620356
Pyruvate Dehydrogenase Deficiency
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Lethargy, Growth delay ORPHA:765
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Immotile cilia, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, ... OMIM:618063
Temple Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Obesity, Hyd... ORPHA:254516
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Growth delay, Irritability ORPHA:30925
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Alexander Disease Type I
Failure to thrive, Progressive macrocephaly, Cachexia, Hydrocephalus, Abnormal thalamic MRI signa... ORPHA:363717
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Irritability, Microcephaly, Lethargy, Delayed CNS myelination OMIM:617105
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Agenesis of corpus callosum, Failure to thrive, Irritability OMIM:250620
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus OMIM:619470
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Frontal Encephalocele
Leukodystrophy, Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly ORPHA:1931
Martsolf Syndrome 2
Short stature, Microcephaly, Lateral ventricle dilatation, Decreased body weight OMIM:619420
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Lateral ventricle dilatation, Muscle weakness OMIM:615889
Cyclic Vomiting Syndrome
Microcephaly, Lethargy, Growth delay, Muscle weakness OMIM:500007
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Microcephaly, Lethargy, Thrombocytopenia OMIM:617397
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Azoospermia, Chronic sinusitis, Chronic rhinitis, ... OMIM:618300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Microcephaly, Lethargy, Megaloblastic anemia, Neutropenia, Short stature, Grow... OMIM:250940
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:304100
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Secondary microcephaly, Short stature, Hydrocephalus, Macrocephaly OMIM:618174
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia, Decreased CSF homovanillic acid concentration, Irritability ORPHA:101150
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Pancytopenia, Skin rash, Irritability, Ophthalmoplegia, Lethargy, Gliosis OMIM:618321
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis... OMIM:618699
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Ciliary Dyskinesia, Primary, 10
Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium ... OMIM:612518
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Chronic rhinitis, Sinusitis, Absent respiratory ciliary axoneme radial spokes, Ci... OMIM:242670
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Small for gestational age, Failure to thrive, Decreased response to growth horm... OMIM:609757
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Immotile cilia, Otitis media, Sinusitis, Bronchiectasis, Cili... OMIM:606763
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ophthalmoplegia, Lethargy, Bradykinesia OMIM:618683
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Euphoria, Peripheral demyelination, Gliosis, Lateral ventricle dilatation OMIM:221770
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Secondary microcephaly, Microcephaly, Delayed CNS myelination, Hydrocephalus OMIM:615599
Craniotelencephalic Dysplasia
Microcephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Micrognathia, Hydrocephalus, Macrocephaly ORPHA:1516
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic... ORPHA:244
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Otitis media, Chronic sinusitis OMIM:300455
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Lethargy, Generalized muscle weakness ORPHA:276608
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Depression, Lateral ventricle dilatation ORPHA:306669
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Failure to thrive in infancy, Intrauterine growth retardation, Micr... ORPHA:284417
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Micrognathia, Primary microcephaly OMIM:618266
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Respiratory insufficiency due to defective ciliary cle... OMIM:616037
Lethal Infantile Mitochondrial Myopathy
Progressive external ophthalmoplegia, Lethargy ORPHA:254857
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Delayed CNS myelination, Ophthalmoplegia OMIM:618731
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Dec... OMIM:307200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Delayed myelination, Hydrocephalus ORPHA:397951
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Irritability, Keratoconjunctivitis, Lethargy, Weight loss... ORPHA:79242
Cyclic Neutropenia
Periodontitis, Pharyngitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Toot... ORPHA:2686
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Ac... ORPHA:811
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Proximal muscle weakness, Fatigable weakness of neck muscles, Lethargy, Cache... ORPHA:42
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis OMIM:617900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Temple Syndrome
Recurrent otitis media, Obesity, Micrognathia, Intrauterine growth retardation, Hydrocephalus, Tr... OMIM:616222
Tubulinopathy-Associated Dysgyria
Microcephaly, Ventriculomegaly, Abnormal thalamus morphology, Macrocephaly ORPHA:467166
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:613808
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Albers-Schönberg Osteopetrosis
Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Hydrocepha... ORPHA:53
Idiopathic Intracranial Hypertension
Lethargy, Abnormal emotion, Depression, Obesity ORPHA:238624
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Impaired T cell funct... OMIM:613179
Central Diabetes Insipidus
Lethargy, Depression, Weight loss, Failure to thrive ORPHA:178029
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Delayed CNS myelination, Failure to thrive, Decreased thalamic volume OMIM:613668
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Macrocephaly at birth, Occipital encephalocele, Hydrocephalus ORPHA:324416
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Micrognathia, Elevated CSF D-2-hydroxyglutaric acid concentration, ... OMIM:600721
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Foot dorsiflexor weakness, Distal lower limb muscle weakness, Triceps... ORPHA:99947
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
External ophthalmoplegia, Failure to thrive, Increased CSF lactate, Lethargy, Anemia, Muscle weak... OMIM:615838
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Fried Syndrome
Hydrocephalus ORPHA:85335
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... OMIM:275350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Ventriculomegaly, Malar flattening, Agenesis of corpus callosum, Hydro... OMIM:109120
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Leukopenia, Lethargy, Delayed CNS myelination, Pancreatitis, Thrombocytopenia,... OMIM:251000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy, Lethargy, Poor head control, Increased CSF glycine concentration, Muscle weakness OMIM:614299
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Occipital encephalocele, Hydrocephalus ORPHA:352682
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Lethargy, Emotional lability, Failure to thrive ORPHA:927
Biemond Syndrome Type 2
Short stature, Obesity, Delayed puberty, Hydrocephalus ORPHA:141333
Mucopolysaccharidosis Type 1
Macrocephaly, Splenomegaly, Hydrocephalus, Sinusitis, Short stature, Chronic otitis media ORPHA:579
Lig4 Syndrome
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Microcephaly, Thromb... OMIM:606593
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy... ORPHA:183675
Tay-Sachs Disease
Ventriculomegaly, Depression, Distal upper limb muscle weakness, Lower limb muscle weakness, Aspi... ORPHA:845
Susac Syndrome
Lethargy, Abnormal emotion, Apathy, Muscle weakness ORPHA:838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay ORPHA:289916
Alobar Holoprosencephaly
Depression, Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimula... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimula... ORPHA:93926
Lobar Holoprosencephaly
Depression, Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimula... ORPHA:93924
Semilobar Holoprosencephaly
Depression, Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimula... ORPHA:220386
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Kleeblattschaedel
Hydrocephalus OMIM:148800
Ogden Syndrome
Lethargy, Ventriculomegaly, Microretrognathia, Postnatal growth retardation ORPHA:276432
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Delayed CNS myelination, Lateral ventricle dilatation OMIM:617668
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis... ORPHA:922
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Lethargy, Failure to thrive ORPHA:28
Hemochromatosis, Type 2A
Lethargy, Azoospermia, Splenomegaly, Arthritis OMIM:602390
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Macrocephaly ORPHA:380
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Micrognathia, Lethargy, Thrombocytopenia, Neutropenia, Growth delay, Normochro... OMIM:614857
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Micrognathia, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Isolated Atp Synthase Deficiency
Microcephaly, Lethargy, Ophthalmoplegia, Short stature, Muscle weakness ORPHA:254913
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Poor head control, Dandy-Walker mal... OMIM:613153
Alg2-Cdg
Microcephaly, Cerebral hypomyelination, Lateral ventricle dilatation ORPHA:79326
Krabbe Disease
Increased CSF protein concentration, Failure to thrive, Peripheral demyelination, CNS demyelinati... OMIM:245200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Failure to thrive, Lower limb muscle weakness, Microcephaly, Lethargy, Hydrocep... ORPHA:395
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Progressive macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:602501
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Astrocytosis, Decreased body weight, Myositis, Interc... ORPHA:258
Propionic Acidemia
Eczematoid dermatitis, Failure to thrive, Pancytopenia, Lethargy, Pancreatitis, Thrombocytopenia,... OMIM:606054
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Inflammation of the large intestine, Decreased specific anti-polysaccharide ant... OMIM:614576
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Aspiration pneumonia, Intrauterine growth retardation, Focal T2 hyperintens... OMIM:619057
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Lethargy, Muscle weakness OMIM:618120
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, A... ORPHA:370959
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Recurrent otitis media, Malar prominence, Intrauterine growth retard... OMIM:251260
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Postnatal growth retardat... ORPHA:2177
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Lethargy, Megaloblastic anemia, Failure to thrive OMIM:236270
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse demyelination of the cerebral white matter, Lateral ventricle dilatation ORPHA:77299
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Pharyngitis, Fasciitis, Osteomyelitis, Abscess, Skin rash, Infectious encep... ORPHA:36234
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Failure to thrive, Postnatal macrocephaly, Micrognathia,... OMIM:620157
Houge-Janssens Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Delayed CNS myelination, Hydrocephalus OMIM:616362
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Increased CSF lactate, Neonatal death, Lethargy, Increased CSF glycine concent... OMIM:605711
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age, Muscle weakness ORPHA:276580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:607143
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Micrognathia, Microcephaly, Hydrocephalus, Macrocephaly OMIM:614219
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, My... OMIM:617591
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Microcephaly, Gliosis, Primary microcephaly, Short stature, Small f... OMIM:619847
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Growth delay, Lateral ventricle dilatation, Microcephaly, Delayed myelination ORPHA:85290
Cleidocranial Dysplasia
Carious teeth, Delayed eruption of teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename... ORPHA:1452
Pyruvate Dehydrogenase E3 Deficiency
Microcephaly, Lethargy, Failure to thrive ORPHA:2394
Hyperphenylalaninemia, Bh4-Deficient, B
Increased CSF phenylalanine concentration, Lethargy, Irritability OMIM:233910
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Failure to thrive, Secondary microcephaly, Agenesis of corpus callosum, Irritab... OMIM:620352
Hydrolethalus Syndrome 2
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Obesity, Hydrocephalus ORPHA:2183
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri... ORPHA:3078
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Astrocytosis, Splenomegaly, Microcephaly, Bradykinesia, Abnormal myelination ORPHA:309854
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Lethargy, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Micrognathia, Agenesis of cor... OMIM:225790
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive, Muscle weakness, Proximal muscle weakness OMIM:212140
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microcephaly, Facial palsy, Hydrocephalus OMIM:613155
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Abnormal thalamus morphology, Postnatal growth retardation, Microgn... ORPHA:300570
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Muscle weakness ORPHA:79230
Glutaric Acidemia I
Lateral ventricle dilatation, Failure to thrive, Symmetrical progressive peripheral demyelination... OMIM:231670
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus, Irritability ORPHA:2770
Isolated Complex I Deficiency
Failure to thrive, Leukodystrophy, Increased CSF lactate, Intrauterine growth retardation, Microc... ORPHA:2609
Meningococcal Meningitis
Increased CSF protein concentration, Hypoglycorrhachia, Skin rash, Infectious encephalitis, Irrit... ORPHA:33475
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Delayed CNS myelination, Lateral ventricle... OMIM:619517
1Q44 Microdeletion Syndrome
Ventriculomegaly, Growth delay, Micrognathia, Agenesis of corpus callosum, Microcephaly, Hydrocep... ORPHA:238769
Hyperlysinuria With Hyperammonemia
Lethargy, Growth delay OMIM:238750
Cockayne Syndrome Type 3
Carious teeth, Astrocytosis, Mild postnatal growth retardation, Splenomegaly, Progressive microce... ORPHA:90324
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Lethargy, Short stature, Decreased mean c... OMIM:611590
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness OMIM:616816
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Myopathy, Centronuclear, X-Linked
External ophthalmoplegia, Dental malocclusion, Neck muscle weakness, Generalized muscle weakness,... OMIM:310400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Microcephaly, Lethargy OMIM:610006
Evans Syndrome
Autoimmune hemolytic anemia, Lethargy, Neutropenia in presence of anti-neutropil antibodies, Auto... ORPHA:1959
Dihydropyrimidinase Deficiency
Failure to thrive, Microcephaly, Lethargy, Elevated CSF dihydrouracil concentration, Growth delay OMIM:222748
Infantile Sialic Acid Storage Disease
Hydrocephalus, Vacuolated lymphocytes, Splenomegaly, Failure to thrive OMIM:269920
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Microcephaly, Disproportionate short-trunk short stature, Hydrocephalus, Macrocephaly, Small for ... OMIM:613330
Classic Galactosemia
Abnormal erythrocyte enzyme concentration or activity, Lethargy, Depression, Delayed puberty ORPHA:79239
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Art... ORPHA:183
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Macrocephaly OMIM:615191
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Dandy-Walker malformation OMIM:220220
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Pancreatitis OMIM:619386
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Large for gestational age, Small for gestational age ORPHA:324575
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Malar flattening, Agenesis of corpus callosum, Hydrocephalus, Short stature OMIM:218350
Fusariosis
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia... ORPHA:228119
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Macrocephaly ORPHA:83473
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Increased CSF lactate, Neonatal death, Lethargy, Stillbirth, Delayed myelina... OMIM:614922
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Scedosporiosis
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Failure to thrive, Intrauterine growth retardation, Peripheral demyelination, Micro... ORPHA:79282
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Disproportionate s... ORPHA:583
Intellectual Developmental Disorder, X-Linked 30
Short stature, Microcephaly, Hydrocephalus OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Lateral ventricle dilatation, Eczematoid dermatitis, Recurrent otitis media,... OMIM:617751
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... OMIM:609053
Medulloblastoma
Total ophthalmoplegia, Irritability, Progressive macrocephaly, Lethargy, Hydrocephalus ORPHA:616
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Proximal muscle weakness, Decreased number of peripheral myelinated... OMIM:256850
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Lethargy, Failure to thrive, Irritability ORPHA:2089
Crigler-Najjar Syndrome
Ophthalmoparesis, Lethargy, Infectious encephalitis ORPHA:205
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Splenomegaly, Emotional lability, Irritability, Leth... OMIM:201100
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Ventriculomegaly, Failure to thrive, Obesity, Lethargy, Hypothalamic lutei... ORPHA:398079
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Secondary microcephaly, Primary microcephaly, Poor head control, Short stature, Abnormal myelinat... ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Delayed CNS myelination, Bradykinesia, Dela... OMIM:617854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Microcephaly, Progressive microcephaly, Hydrocephalus, Respiratory i... OMIM:615249
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Lethargy, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Retrognathia, Micrognathia, Agenesis of corpus callosum, Colpocephaly, Hydrocep... OMIM:620156
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly OMIM:307000
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Macrocephaly, Short stature, Holoprosencephaly ORPHA:93274
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Prominence of the premaxilla, Microcephaly, CNS demyelination, Hydrocephal... OMIM:614886
Osteopetrosis, Autosomal Recessive 5
Poor head control, Ventriculomegaly, Growth delay, Stillbirth, Extramedullary hematopoiesis, Hepa... OMIM:259720
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Dilated fourth ventricle, Chronic sinusitis, Hypoplastic spleen OMIM:620642
Insulinoma
Increased body weight, Lethargy, Pituitary prolactin cell adenoma, Generalized muscle weakness ORPHA:97279
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Lethargy, Failure to thrive OMIM:238970
Optic Pathway Glioma
Ophthalmoplegia, Growth delay, Hydrocephalus, Fatigable weakness ORPHA:2086
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy OMIM:619064
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Large for gestational age ORPHA:276556
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Emanuel Syndrome
Broad jaw, Ventriculomegaly, Failure to thrive, Recurrent otitis media, Intrauterine growth retar... OMIM:609029
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Micrognathia, Microcephaly, Abnormality of the ... ORPHA:2570
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Total ophthalmoplegia, Microcephaly, Short stature, Growth delay ORPHA:208447
Osteopetrosis, Autosomal Recessive 1
Ophthalmoparesis, Carious teeth, Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hy... OMIM:259700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, Malar flattening, Hydrocephalus, Macrocephaly, Mandib... ORPHA:2180
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Micrognathia, Malar flattening, Hydrocephalus, Laryngomalacia ORPHA:171839
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Large for gestational age ORPHA:276575
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:272
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly OMIM:175700
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia OMIM:243500
Rheumatic Fever
Recurrent pharyngitis, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis ORPHA:3099
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Ventriculomegaly, Failure to thrive, Increased body weight, Lethargy, Hypo... ORPHA:398069
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Micrognathia, Encephalocele, Anencephaly, Mic... ORPHA:1908
Good Syndrome
Recurrent skin infections, Fatigable weakness, Abnormal leukocyte morphology, Thrombocytopenia, S... ORPHA:169105
Thanatophoric Dysplasia
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Hyd... ORPHA:2655
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Lethargy, Pituitary hypothyroidism, Ov... ORPHA:99832
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Mic... OMIM:618291
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Microretrognathia, Lateral ventricle dilatation, Abnorm... OMIM:620371
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation OMIM:618890
Igg4-Related Pachymeningitis
Nephritis, Increased CSF protein concentration, Lymphadenitis, Lower limb muscle weakness, Paroti... ORPHA:449427
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Depression, Thalamic calcification OMIM:615483
Trichinellosis
Increased circulating IgE level, Skin rash, Irritability, Ophthalmoplegia, Lethargy, Apathy, Faci... ORPHA:863
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Abnormal morphology of musculature of pharynx, Laryngeal stridor, Cerebral hyp... ORPHA:280210
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrocephaly OMIM:300886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Microcephaly, Ventriculomegaly, Lethargy, Agenesis of corpus callosum OMIM:608836
Monosomy 18Q
Secondary growth hormone deficiency, Mandibular prognathia, Growth delay, Failure to thrive, Slen... ORPHA:1600
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Hydrocephalus, T... ORPHA:381
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Failure to thrive, Pancytopenia, Skin rash, Lethargy, Megaloblastic anemia, Short stature, Thromb... OMIM:277380
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pharyngitis, Leukopenia, Leukocytosis, Lethargy, Acute infectious pneumonia, Neutrophilia ORPHA:36238
Spondyloenchondrodysplasia
Pneumonia, Ventriculomegaly, Granuloma, Dental malocclusion, Delayed eruption of teeth, Hepatitis... ORPHA:1855
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Macroce... OMIM:615219
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Intrauterine growth retardation, Malar flattening, Agenesis of corpus callosum... OMIM:612940
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Akinetic mutism, Irritability, Delayed myel... ORPHA:2148
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hepatosplenomegaly, Micrognathia, Intrauterine growth retardation, Splenomegal... OMIM:614866
Desmosterolosis
Severe short stature, Ventriculomegaly, Retrognathia, Failure to thrive, Intrauterine growth reta... ORPHA:35107
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased CSF protein concentration, Failure to thrive, Leukodystrophy, Increased CSF lactate, Sp... OMIM:252010
Riboflavin Deficiency
Lethargy OMIM:615026
Granulomatosis With Polyangiitis
Keratitis, Subglottic stenosis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivi... OMIM:608710
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Retrognathia, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Whipple Disease
Uveitis, Depression, Splenomegaly, Infectious encephalitis, Myositis, Cachexia, Hydrocephalus, Ar... ORPHA:3452
Yellow Nail Syndrome
Rhinitis, Bronchiectasis, Sinusitis ORPHA:662
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Glutamine Deficiency, Congenital
CNS hypomyelination, Lateral ventricle dilatation, Neonatal death, Decreased CSF glutamine concen... OMIM:610015
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Microcephaly, Hydrocephalus, Growth delay ORPHA:85284
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto ... ORPHA:199299
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Growth delay, Lateral ventricle dilatation OMIM:615716
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hypoglycorrhachia, Postn... ORPHA:168577
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Microcephaly, Lethargy, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia,... OMIM:277400
Emanuel Syndrome
Broad jaw, Ventriculomegaly, Delayed eruption of teeth, Failure to thrive, Recurrent otitis media... ORPHA:96170
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis OMIM:130010
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:618736
Mhc Class I Deficiency 1
Bronchiectasis, Chronic otitis media, Chronic sinusitis OMIM:604571
Lacrimal Duct Defect
Conjunctivitis, Sinusitis OMIM:149700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Lethargy, Necrotizing enterocolitis, Muscle weakness OMIM:201475
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Ma... OMIM:257300
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Irritability OMIM:237300