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Gene: Nmnat2 MGI:2444155

Gene Summary

Name:

nicotinamide nucleotide adenylyltransferase 2

Synonyms:

PNAT1, D030041I09Rik

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	Allele	Zyg	Life Stage
edema	Nmnat2^em1(IMPC)Mbp	HOM	E15.5
hemorrhage	Nmnat2^em1(IMPC)Mbp	HOM	E15.5
preweaning lethality, complete penetrance	Nmnat2^em1(IMPC)Mbp	HOM	Early adult
embryonic growth retardation	Nmnat2^em1(IMPC)Mbp	HOM	E15.5
enlarged lymph nodes	Nmnat2^em1(IMPC)Mbp	HET	Early adult
abnormal placenta vasculature	Nmnat2^em1(IMPC)Mbp	HOM	E15.5
abnormal neural tube morphology	Nmnat2^em1(IMPC)Mbp	HET	E9.5
abnormal placenta morphology	Nmnat2^em1(IMPC)Mbp	HOM	E15.5
abnormal lymph node morphology	Nmnat2^em1(IMPC)Mbp	HET	Early adult
microphthalmia	Nmnat2^em1(IMPC)Mbp	HET	E15.5
microphthalmia	Nmnat2^em1(IMPC)Mbp	HOM	E15.5

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lacZ Expression

Expression data not available

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 Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

17 Images

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Gross Morphology Embryo E9.5

Images

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Nmnat2 mutations

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

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

Human diseases associated with Nmnat2 (0 diseases)
Human diseases predicted to be associated with Nmnat2 (1371 diseases)

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

The table below shows human diseases predicted to be associated to Nmnat2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy...	OMIM:604320
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Cerebellar vermis hypoplasia, Respiratory insufficiency, Tongue fasciculation...	OMIM:616081
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m...	ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Babinski sign, Distal lower limb muscle weakness, Peripheral axonal degeneration, Axonal degenera...	OMIM:302800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f...	OMIM:607641
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor ...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Babinski sign, Proximal muscle weakness in upper limbs, Lower limb spasticity, Fasciculations, Te...	OMIM:613954
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Spastic Paralysis, Infantile-Onset Ascending	Babinski sign, Urinary incontinence, Tetraplegia, Spastic paraplegia, Achilles tendon contracture...	OMIM:607225
Congenital Muscular Dystrophy With Intellectual Disability	Skeletal muscle hypertrophy, Cerebellar vermis hypoplasia, Calf muscle hypertrophy, Hypoglycosyla...	ORPHA:370968
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic par...	OMIM:620011
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Cerebellar cyst, Tongue fasciculations, Spasticity, Peripheral axonal neuropathy, ...	ORPHA:2254
Spinal Muscular Atrophy, Type I	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Spinal muscular atrophy, Pr...	OMIM:253300
Spastic Paraplegia 3, Autosomal Dominant	Spastic gait, Babinski sign, Hypoplasia of the corpus callosum, Urinary incontinence, Lower limb ...	OMIM:182600
Amyotrophic Lateral Sclerosis 28	Chaddock reflex, Babinski sign, Fasciculations, Rimmed vacuoles, Upper limb muscle weakness, Fibe...	OMIM:620452
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Axonal degeneration, Fasciculations, Distal amyotrophy, Decreased motor nerve conduction velocity...	OMIM:614436
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Tremor, Urinary bladder...	OMIM:600363
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:611638
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Limb fasciculations, Abnormal seventh cranial...	ORPHA:90117
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Babinski sign, Hypoplasia of the corpus callosum, Urinary incontinence, Lower limb ...	OMIM:604360
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Hypoplasia of the brainstem, Spasticity, Congenital contracture, Hypoplasia of the po...	OMIM:225753
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Tongue fasciculations, Distal amyotrophy, Clonus, Hand muscle atrophy, Eleva...	OMIM:618811
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cerebral atrophy, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Facial di...	OMIM:611890
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Constipatio...	OMIM:615112
Spastic Paraplegia 2, X-Linked	Optic atrophy, Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Flexion co...	OMIM:312920
Lethal Congenital Contracture Syndrome 7	Cerebral atrophy, Oral-pharyngeal dysphagia, Facial diplegia, Cerebellar atrophy, Distal arthrogr...	OMIM:616286
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Axonal degeneration, Respiratory insufficiency, Peripheral axonal neuropathy, Vocal cord paralysi...	OMIM:615490
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Urinary incontinence, Lower limb ...	ORPHA:444099
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Fasciculations, Tetraplegia, Proximal amyotrophy, Decreased number of periph...	OMIM:604484
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Huntington Disease-Like 3	Urinary incontinence, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Frontal c...	OMIM:604802
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Global brain atrophy, Hypertonia, Respiratory insufficiency, Peripheral axonal neuropathy, Death ...	OMIM:611722
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Amyotrophic Lateral Sclerosis 8	Fasciculations, Distal amyotrophy, Abnormal pyramidal tract morphology, Proximal amyotrophy, Abno...	OMIM:608627
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Juvenile Primary Lateral Sclerosis	Spastic gait, Spastic dysarthria, Abnormal upper motor neuron morphology, Abnormality of the blad...	ORPHA:247604
Spastic Paraplegia 8, Autosomal Dominant	Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Urinary urgency, Urinar...	OMIM:603563
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Oral-pharyngeal dysphagia, Distal amyotrophy, Facial diplegia, Vocal ...	OMIM:616287
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Urinary...	ORPHA:206448
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Facial hypotonia, Respiratory insufficiency, Autophagic vacuoles, EMG: myopa...	ORPHA:266
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ...	ORPHA:254361
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, P...	OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Axonal degeneration, Dis...	OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb muscle weakness, Peripheral hypomyelination, Claw hand deformity, Decreased mot...	OMIM:605285
Spinocerebellar Ataxia 10	Bradykinesia, Babinski sign, Limb fasciculations, Decreased nerve conduction velocity, Urinary in...	OMIM:603516
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Tremor, Limb myoclonus, Frequent falls, Respiratory insufficiency due to muscle...	ORPHA:2590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n...	OMIM:618138
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autosomal Dominant Spastic Paraplegia Type 8	Spastic gait, Limb ataxia, Babinski sign, Urinary incontinence, Lower limb spasticity, Progressiv...	ORPHA:100989
Neuromyelitis Optica Spectrum Disorder	Myelitis, Paraplegia, Neuronal loss in central nervous system, Functional abnormality of the blad...	ORPHA:71211
Combined Oxidative Phosphorylation Deficiency 51	Cerebral atrophy, Optic atrophy, Aspiration pneumonia, Rigidity, Myoclonus, Intrauterine growth r...	OMIM:619057
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Nemaline Myopathy 8	Facial palsy, Nemaline bodies, Myofibrillar myopathy, Death in infancy, Dysphagia, Flexion contra...	OMIM:615348
Congenital Myopathy 10A, Severe Variant	Gastroesophageal reflux, Respiratory insufficiency, Tongue fasciculations, Diaphragmatic paralysi...	OMIM:614399
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Recurrent urinary tract infections, Nephrolithiasis, Megacystis, Hypoperist...	OMIM:619365
Spastic Paraplegia 7, Autosomal Recessive	Optic atrophy, Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Dysdiado...	OMIM:607259
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respiratory infections, Apraxi...	ORPHA:209905
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Secondary microcephaly, Neurogenic bladder, Spasticity, Vocal cord paralysis, Hypo...	ORPHA:500144
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Spastic tetrap...	OMIM:236792
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Urinary incontinence, Fasciculations, Distal amyotrophy, Spasticity, Respiratory i...	OMIM:602099
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Ataxia, Rod-cone d...	OMIM:551500
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Increased variability in muscle fiber diameter, Respiratory insufficiency d...	OMIM:300717
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Axonal degeneration, Chorea, Distal amyotrophy, Truncal ataxia, ...	OMIM:208920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Renal Tubular Dysgenesis	Respiratory insufficiency, Renotubular dysgenesis, Anuria, Microcephaly, Pulmonary hypoplasia, Ab...	OMIM:267430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Muscular dystrophy, Cerebellar cyst, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnorm...	OMIM:606612
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Abnormal p...	OMIM:605259
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Atrophy/Degeneration affecting the brainstem, Brain atrophy, Poor suck, Spasticity, Death in infa...	OMIM:616277
Parkinsonism-Dystonia 1, Infantile-Onset	Hypomimic face, Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Abnormal pyrami...	OMIM:613135
Autosomal Dominant Spastic Paraplegia Type 41	Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Urinary urgency, Hand muscle weakness...	ORPHA:320355
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Weakness of facial musculature, Tremor, Ataxia, Dysphagia, Gastrointestinal dys...	OMIM:618637
Spastic Paraplegia 4, Autosomal Dominant	Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Paraplegia, Urinary urg...	OMIM:182601
Gombo Syndrome	Microphthalmia	OMIM:233270
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, Death in infancy, Increased variability in m...	OMIM:618414
Autosomal Dominant Spastic Paraplegia Type 38	Spastic gait, First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Babinski...	ORPHA:171617
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Distal ...	OMIM:607706
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la...	OMIM:105500
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Acute rhabdomyolysis, Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degener...	OMIM:604168
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Distal amyotrophy, Facial palsy, Abnormal pyramidal tract morphology, ...	OMIM:256850
Amyotrophic Lateral Sclerosis 1	Fasciculations, Spasticity, Skeletal muscle atrophy, Degeneration of anterior horn cells, Amyotro...	OMIM:105400
Spinocerebellar Ataxia Type 1	Bradykinesia, Optic atrophy, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, A...	ORPHA:98755
Gerstmann-Straussler-Scheinker Syndrome	Abnormality of extrapyramidal motor function, Abnormal pyramidal tract morphology, Gait ataxia, L...	ORPHA:356
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Cerebellar atrophy, Dysphagia, Clumsiness, Babinski sign, Peripher...	ORPHA:276244
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Tongue fasciculations, Limb muscle weakness, Hemiparesis, Hand muscle atrophy, Ankle clonus, Resp...	OMIM:600561
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Chorea, Facial palsy, Abnormal pyramidal tract mor...	OMIM:607483
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Respiratory insufficiency, Neuronal loss in central nervous system, Spasticity,...	OMIM:610127
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Abdominal pain, Po...	OMIM:176200
Autosomal Dominant Spastic Paraplegia Type 37	Spastic gait, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Urinary urgen...	ORPHA:171612
Autosomal Dominant Spastic Paraplegia Type 19	Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Lower limb amyotrophy, Progressi...	ORPHA:100999
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Atelectasis, Agenesis of corpus callosum, Bronchiectasis, Recu...	OMIM:619466
Dystonia 16	Bradykinesia, Retrocollis, Abnormal pyramidal tract morphology, Involuntary movements, Abnormal p...	OMIM:612067
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Respiratory insuffici...	ORPHA:2924
Amyotrophic Lateral Sclerosis	Babinski sign, Progressive spinal muscular atrophy, Paralysis, Progressive distal muscular atroph...	ORPHA:803
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autosomal Dominant Spastic Paraplegia Type 42	Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Progressive spastic pa...	ORPHA:171863
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Peripheral axonal neuropathy, Paralysis, Skeletal muscle atrophy	OMIM:613710
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Muscular Dystrophy, Congenital, 1B	Muscular dystrophy, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amyotrophy, Generali...	OMIM:604801
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Urinary incontinence, Spastic tetraparesis, Spasticity of facial muscles, Head titu...	OMIM:205100
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Hypospadias, Glandular hypospadias, Death in infancy, Centrally nucleated skeletal m...	OMIM:300219
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Hydroureter, Death in infancy, Hydronephrosis, Feeding difficulties, Myoclonus, Respi...	OMIM:618240
Primary Lateral Sclerosis, Juvenile	Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli...	OMIM:606353
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Respiratory paralysis, Vomiting, Paralysis, Abdominal...	OMIM:612740
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Urinary incontinence, Axonal dege...	ORPHA:139399
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ...	OMIM:606071
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen...	OMIM:162100
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Peripheral axonal neuropathy, Spinal muscular atrophy, Increased variability in muscle fiber diam...	OMIM:616867
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Hypertonia, Respiratory insufficiency, Death in infancy, Rigidity, Respirator...	OMIM:613869
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduct...	OMIM:158580
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Diarrhea, Cerebellar atrophy, Nephrolithiasis, Generalized amyotrophy, ...	ORPHA:352447
Familial Congenital Mirror Movements	Poor fine motor coordination, Cerebral palsy, Agenesis of corpus callosum, Clumsiness, Abnormal c...	ORPHA:238722
Familial Visceral Myopathy	Abdominal distention, Aganglionic megacolon, Hydroureter, Vesicoureteral reflux, Camptodactyly of...	ORPHA:2604
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dysphagia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Visceral Myopathy 1	Abdominal distention, Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Diarrh...	OMIM:155310
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Bronchopulmonary Dysplasia	Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Diaphragmatic paralys...	ORPHA:70589
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Cerebral atrophy, Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death...	OMIM:245400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis, Distal lower limb muscle weakness	OMIM:608634
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Type 1 muscle fiber...	ORPHA:98905
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor...	ORPHA:275872
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration,...	ORPHA:88628
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Fasciculations, Tongue fasciculations, Dysphagia, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Hypertension, Edema	OMIM:189800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Hypertonia, Peripheral axonal neuropathy, Distal amyotrophy, Tremor...	OMIM:616505
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal tract morphology, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:260540
Atresia Of Urethra	Abdominal distention, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder,...	ORPHA:105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis, Distal lower limb muscle weakness	OMIM:158590
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Upper limb muscle weakness, Foot dorsiflexor weakness, Lower limb muscle wea...	OMIM:616155
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Babinski sign, Urinary incontinence, Lower limb spasticity, Atrophy/Degeneration a...	OMIM:612319
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Cerebral atrophy, Babinski sign, Hypoplasia of the corpus callosum, Tremor, Abnormal pyramidal tr...	ORPHA:83629
Adrenomyodystrophy	Megacystis, Abnormality of the urinary system, Myopathy	ORPHA:977
Nanophthalmos 4	Microphthalmia	OMIM:615972
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Abdominal pain, Co...	OMIM:613662
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Degeneration of the ...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Degeneration of the ...	ORPHA:276241
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy	OMIM:183020
Nanophthalmos	Microphthalmia	ORPHA:35612
Dystonia 9	Abnormal pyramidal tract morphology, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign...	OMIM:601042
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Sensory axonal neuropathy, Poor ...	ORPHA:99947
Multiple Mitochondrial Dysfunctions Syndrome 3	Cerebral atrophy, Optic atrophy, Beta-aminoisobutyric aciduria, Respiratory insufficiency, Feedin...	OMIM:615330
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Brain atrophy, Fasciculations, Rimmed vacuoles, Upper motor neu...	ORPHA:52430
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Respiratory insufficiency, Hippocampal atrophy, Spasticity, Tetraparesis, Skeletal muscle atrophy...	OMIM:617892
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Progressive microcephaly, Hemiparesis, Ataxia, Extrapyra...	ORPHA:71277
Combined Oxidative Phosphorylation Defect Type 29	Gastrojejunal tube feeding in infancy, Global brain atrophy, Axonal degeneration, Poor coordinati...	ORPHA:478029
Autosomal Dominant Spastic Paraplegia Type 12	Spastic gait, Babinski sign, Limb ataxia, Urinary incontinence, Lower limb spasticity, Lower limb...	ORPHA:100993
Glut1 Deficiency Syndrome 1	Secondary microcephaly, Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Cho...	OMIM:606777
Intermediate Nemaline Myopathy	Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult...	ORPHA:171433
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ...	OMIM:611637
Visceral Myopathy 2	Intestinal obstruction, Gastroparesis, Gastroesophageal reflux, Intestinal pseudo-obstruction, Ne...	OMIM:619350
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Vomiting, Constipation, Megacystis, Feeding difficulties in infancy	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Vomiting, Constipation, Megacystis, Feeding difficulties in infancy	OMIM:304800
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Microcephaly, Neonatal death, Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Spinal muscular atrophy,...	ORPHA:254875
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k...	OMIM:612925
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Fetal megacystis, Renal cortical hype...	OMIM:619351
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal tract morph...	OMIM:608768
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Death in childhood, Renal tubular acidosis, Tongue fascicul...	OMIM:614922
Hyperekplexia 4	Cerebral atrophy, Hypertonia, Camptodactyly, Flexion contracture, Distal arthrogryposis, Myoclonu...	OMIM:618011
Arthrogryposis Multiplex Congenita 6	Death in childhood, Hypospadias, Nemaline bodies, Death in infancy, Increased variability in musc...	OMIM:619334
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Hyperglycinuria, Alpha-aminoadipic aciduria, Abnormality of extrapyram...	OMIM:605711
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubu...	ORPHA:340
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal pyramidal tract mo...	OMIM:256600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy...	ORPHA:95434
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Decreased sensory nerve conduction velocity, Gastroesophageal reflux, Ragge...	ORPHA:298
Diaminopentanuria	Spasticity, Ataxia, Hyperlysinuria, Neurodegeneration, Cystinuria	OMIM:222350
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Frequent fall...	OMIM:603689
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Abdominal distention, Hypertonia, Optic atrophy, Chorea, Spastic...	ORPHA:79097
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Distal amyotrophy, Spinal muscular atrophy, Respiratory insufficiency due to muscle weakness, Sca...	OMIM:611067
Immunodeficiency 95	Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p...	OMIM:619773
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Abdominal pain, Poor appetite, Respiratory failure	OMIM:616794
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Urinary incontinence, Fasciculations, Tetraplegia, Cerebellar atrophy, Bowel incontinence, Ataxia...	ORPHA:496641
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612926
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Rabies	Anorexia, Recurrent pharyngitis, Diarrhea, Cerebral palsy, Vocal cord paresis, Nausea and vomiting	ORPHA:770
Acute Interstitial Pneumonia	Ground-glass opacification, Atelectasis, Peribronchovascular interstitial thickening, Pleural eff...	ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612924
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormality of the diaphragm, Ate...	ORPHA:2357
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis	OMIM:615294
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abdominal distention, Hydroureter, Death in infancy, Hypoperistalsis, Nausea and vomiting, Megacy...	ORPHA:2241
Narp Syndrome	Babinski sign, Corticospinal tract atrophy, Myoclonic spasms, Cerebral cortical atrophy, Retinal ...	ORPHA:644
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Babinski sign, Gastroesophageal reflux, Respiratory insufficiency, Spasticity, Fa...	OMIM:618186
Ullrich Congenital Muscular Dystrophy	Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Frequent falls, Increased v...	ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Hereditary Neuropathy With Liability To Pressure Palsies	Respiratory insufficiency, Decreased motor nerve conduction velocity, Vocal cord paralysis	ORPHA:640
Severe Congenital Nemaline Myopathy	Abnormality of the diaphragm, Hypospadias, Facial diplegia, Facial palsy, Nemaline bodies, Arthro...	ORPHA:171430
Sporadic Infantile Bilateral Striatal Necrosis	Hypomimic face, Abnormal posturing, Babinski sign, Urinary incontinence, Bradykinesia, Progressiv...	ORPHA:225147
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Poor motor coordin...	ORPHA:363400
Snakebite Envenomation	Acute kidney injury, Respiratory paralysis, Diarrhea, Neuromuscular dysphagia, Muscle fiber necro...	ORPHA:449285
Ceroid Lipofuscinosis, Neuronal, 7	Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration	OMIM:610951
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Cerebellar atrophy, Optic n...	OMIM:616811
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Cerebral atrophy, Hypertonia, Abnormality of extrapyra...	ORPHA:445038
Foodborne Botulism	Paralysis, Diarrhea, Abdominal pain, Diaphragmatic paralysis, Cerebral palsy, Constipation, Respi...	ORPHA:228371
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Apraxia, Tetraparesis, Neuronal loss in central nervous system, Paraparesis, Ex...	OMIM:105550
Acute Intermittent Porphyria	Urinary incontinence, Increased urinary porphobilinogen, Dark urine, Nausea and vomiting, Proxima...	ORPHA:79276
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn...	ORPHA:101097
Cerebrotendinous Xanthomatosis	Chronic diarrhea, Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decre...	ORPHA:909
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn...	ORPHA:98913
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Cerebellar at...	OMIM:617672
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Urinary incontinence, Gastroesophageal reflux, Lower ...	OMIM:601162
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Abnormal...	OMIM:222748
Genetic Recurrent Myoglobinuria	Acute kidney injury, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Exercis...	ORPHA:99845
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Rod-cone dystrophy, Atelectasis	OMIM:300455
Alg1-Cdg	Decreased liver function, Abnormality of the kidney, Cerebral atrophy, Chronic diarrhea, Cerebell...	ORPHA:79327
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Babinski sign, ...	OMIM:615157
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency...	OMIM:620265
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d...	OMIM:620045
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Ankle flexion contracture, Increased urinary porphobilinogen, Episodic vomi...	ORPHA:100924
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Parenchymal consolidat...	OMIM:610978
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Abnormal anteri...	ORPHA:1145
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral atrophy, Babinski sign, Hypertonia, Death in childhood, Tube feeding, Spasticity, Cerebr...	OMIM:619847
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Dysphagia, Abnormal lower mot...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Dysphagia, Abnormal lower mot...	OMIM:616437
Wolman Disease	Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy	OMIM:620151
Acute Peripheral Arterial Occlusion	Paralysis, Limb muscle weakness	ORPHA:90064
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Distal amyotrophy, Poor gross mot...	ORPHA:99948
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity, Atelectasis...	ORPHA:258
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Hand muscle weakness, Decreased motor nerve conduction velocity, Segmental ...	OMIM:162500
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology, Decreased motor nerve conduction velocity, Hypertrophic nerve c...	DECIPHER:29
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, C...	OMIM:215470
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebral atrophy, Babinski sign, Global brain atrophy, Death in childhood, Atrophy/Degeneration a...	OMIM:615838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemiparesis, Acute kidney injury, Anuria, Hemolytic-uremic syndrome	OMIM:235400
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Pleuritis, Oliguria, Anuria, Pleural empyema, Nephrotic range proteinuria, H...	ORPHA:544482
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Distal amyotrophy, Gait ataxia, Limb muscle weakness, Intrinsic hand muscle atrophy, Vocal cord p...	OMIM:614895
Japanese Encephalitis	Decreased motor nerve conduction velocity, Opisthotonus, Myoclonus, Abnormal pons morphology, Wea...	ORPHA:79139
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Microphthalmia, Syndromic 6	Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Microcephaly, Renal hypoplasia, Cerebra...	OMIM:607932
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Brain atrophy, Nemaline bodies, Death in infancy, ...	OMIM:620275
Proximal Spinal Muscular Atrophy	Gastroparesis, Tongue fasciculations, Facial diplegia, Triceps weakness, Respiratory insufficienc...	ORPHA:70
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Chorea, Cerebellar atrophy, Ataxia, Dysph...	ORPHA:506
Farber Disease	Atelectasis, Respiratory insufficiency, Chronic diarrhea, Brain atrophy, Spasticity, Myoclonus, P...	ORPHA:333
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Muscular dystrophy, Retinal dysplasia, Encephalocele, Respiratory insufficiency, R...	OMIM:253800
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebella...	ORPHA:157941
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Horner Syndrome, Congenital	Paralysis, Congenital Horner syndrome	OMIM:143000
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia...	ORPHA:168486
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Tremor, Episodic ataxia, Microcephaly, Agenesis of corpus callosum, Myoclonus, ...	OMIM:312170
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Babinski sign, Urinary incontinence, Apraxia, Abnormal upper motor neuron morph...	OMIM:221770
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Polyglucosan Body Neuropathy, Adult Form	Urinary incontinence, Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral...	OMIM:263570
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst	OMIM:174050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Cerebellar vermis hypoplasia, Arthrogryposis multiplex congenita, Respirato...	OMIM:618291
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Death in infancy, Cerebral c...	ORPHA:1194
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Brown-Vialetto-Van Laere Syndrome 1	Respiratory failure requiring assisted ventilation, Death in childhood, Ankle clonus, Respiratory...	OMIM:211530
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption	ORPHA:103907
Poliomyelitis	Anorexia, Respiratory failure requiring assisted ventilation, Hyperkinetic movements, Myelitis, H...	ORPHA:2912
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Microphthalmia	ORPHA:324416
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur...	OMIM:606070
Avian Influenza	Ground-glass opacification, Pneumothorax, Acute kidney injury, Myelitis, Diarrhea, Abdominal pain...	ORPHA:454836
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia	ORPHA:141333
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Athyreosis	Constipation, Abdominal distention, Macroglossia, Feeding difficulties	ORPHA:95713
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Vomiting, Abdominal pain	ORPHA:313906
Hepatic Veno-Occlusive Disease	Respiratory failure, Abdominal pain, Renal insufficiency	ORPHA:890
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Vomiting, Secretory diarrhea, Respiratory tract infection, Bronchiectasis, ...	OMIM:619445
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Homocystinuria, Diarrhea, Spasticity, Vomiting, Feeding difficulties, Poor coor...	OMIM:250940
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Abdominal distention, Babinski sign, Urinary incontinence, Decreased nerve conduct...	ORPHA:309256
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry...	OMIM:614723
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Brain atrophy, EMG: myopathic abnormalities, Intrauterine growth retardation, R...	OMIM:620326
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Abnormality of skeletal muscle fiber size, Tube feeding, Chylothorax, Nemalin...	OMIM:620278
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Death in childhood, Weakness of facial musculature, Truncal ataxia, Hyperphosphatu...	OMIM:220110
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diarrhea, Absent brainstem auditory responses, Respiratory failure, Vomiting, Head titubation, Di...	ORPHA:3240
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Death in childhood, Cervical myelopathy, Torticollis, Brain atrophy, Tremor...	OMIM:617186
Primary Angiitis Of The Central Nervous System	Paralysis, Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Nausea and vomiting, Tetraparesis, Pse...	ORPHA:140989
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle ...	ORPHA:43
Dystonia 31	Abnormal posturing, Parkinsonism, Dysphagia	OMIM:619565
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Death in infancy, Respiratory failure, Renal insufficiency, Aminoaciduria, Lacticaciduria	OMIM:619386
Hypokalemic Periodic Paralysis	Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P...	ORPHA:681
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Respiratory i...	ORPHA:600
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Surfactant Metabolism Dysfunction, Pulmonary, 3	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ...	OMIM:610921
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Pulmonary edema, Pleural effusion, Cardiorespiratory arrest, Ol...	ORPHA:188
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Respiratory paralysis, Diarrhea...	OMIM:176000
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Hydrocephalus, Peribronchovascular interstitial thickening...	ORPHA:244
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Retinal telangiectasia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:612199
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory insufficiency, Abnormality of extrapyramidal motor function, Spasticit...	OMIM:614299
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Emphysema, Atelectasis, Gastroesophageal reflux, Death in childhood...	OMIM:613177
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Distal amyotrophy, Motor axonal neuropathy, Rigidity, Spastic tetraplegia, Spastic ...	OMIM:615643
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Torticollis, Tremor, Facial palsy, Cerebellar atro...	OMIM:128100
Hyperkalemic Periodic Paralysis	Hypertonia, Periodic hyperkalemic paralysis, Death in early adulthood, Skeletal muscle hypertroph...	ORPHA:682
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abdominal distention, Babinski sign, Urinary incontinence, Decreased nerve conduct...	ORPHA:309263
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Lower limb amyotrophy, Titubation, Respiratory failure, Ataxia, Abnormal m...	ORPHA:280210
Spastic Paraplegia 79B, Autosomal Recessive	Cerebral atrophy, Babinski sign, Hoffmann sign, Optic atrophy, Lower limb spasticity, Fasciculati...	OMIM:615491
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Spasticity, Tremor, Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Glycosuria, Malabsorption, Hyperactive bowel sounds	OMIM:606824
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter, Hepatic failure	OMIM:619431
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux, Glomerular sclerosis, Congenital nephrotic syndrom...	OMIM:256300
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneumonia, Dysphagia,...	ORPHA:60032
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Respiratory failure, Hip contracture, Knee flexion contracture	OMIM:313420
De Sanctis-Cacchione Syndrome	Cerebral atrophy, Babinski sign, Global brain atrophy, Hypertonia, Optic atrophy, Scissor gait, A...	OMIM:278800
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Respiratory insufficiency, Microcephaly, Rhabdomyolysis, Oliguria	ORPHA:159
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, ...	ORPHA:3348
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Pulmonary fibrosis, Oliguria, Pulmonary infiltrates, Renal insufficiency	ORPHA:220393
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Achondrogenesis, Type Ib	Respiratory insufficiency, Abdominal distention, Stillbirth	OMIM:600972
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Abdominal distention, Babinski sign, Urinary incontinence, Decreased nerve conduct...	ORPHA:309271
Primary Effusion Lymphoma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure	ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Spasticity, Cer...	OMIM:616239
Niemann-Pick Disease, Type A	Spasticity, Athetosis, Vomiting, Constipation, Diffuse reticular or finely nodular infiltrations,...	OMIM:257200
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Spasticity, Focal substantia nigra T2 hyperintensity, A...	OMIM:256000
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Br...	OMIM:619468
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Neurodegeneration, Cerebellar atrophy, Gait ataxia	ORPHA:438134
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Gastroesophageal reflux, Chorea, Spasticity, Ataxia, Dysphagia, Respira...	ORPHA:70472
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Respiratory failure	ORPHA:1832
Waardenburg Syndrome Type 3	Spastic paraplegia, Camptodactyly of finger, Atelectasis, Microcephaly	ORPHA:896
C1Q Deficiency 2	Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections	OMIM:620321
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Diarrhea, Camptodactyly, Death in infancy, Vomiti...	OMIM:608104
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abdominal distention, Abnormal pulmonary interstitial morphology, Ate...	OMIM:620233
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun...	ORPHA:100070
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Mmep Syndrome	Microphthalmia	ORPHA:3434
Aicardi-Goutieres Syndrome 1	Cerebral atrophy, Abnormality of extrapyramidal motor function, Progressive microcephaly, Spastic...	OMIM:225750
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract in...	OMIM:263000
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Lower limb amyotrophy, Fasciculations, Cerebellar atrophy, Upper limb muscl...	ORPHA:466768
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Hypospadias, Ragged-red muscle fibers, Respiratory insufficiency, Lacticaciduria, ...	OMIM:252010
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e...	ORPHA:2902
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Hematuria, Myositis, Abdominal pain, Diarrhea, Abnormality of the urinary s...	ORPHA:93552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Vomiting, Hydronephrosis, Feeding difficulti...	OMIM:300048
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema, Edema	OMIM:178400
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Ab...	ORPHA:85443
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Respiratory insufficienc...	OMIM:602088
Lymphangioleiomyomatosis	Pneumothorax, Optic atrophy, Gastrointestinal hemorrhage, Renal neoplasm, Atelectasis, Emphysema,...	ORPHA:538
Lead Poisoning	Anorexia, Abdominal distention, Abdominal pain, Poor gross motor coordination, Poor fine motor co...	ORPHA:330015
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Urinary incontinence, Orthostatic hypotension, Tremor, Abnormal auto...	OMIM:146500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy	OMIM:277300
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Ataxia, Dysphagia, Feeding difficulties, Respiratory failure, Dysmetria	OMIM:618233
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Proteinuria, Abnormality of the kidney	ORPHA:369
Small Bowel Atresia	Vomiting, Abdominal distention, Feeding difficulties, Intrauterine growth retardation	ORPHA:1201
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner...	ORPHA:268882
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Respiratory insufficiency, Renal hypoplasia, Respiratory failure	OMIM:276950
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Oligosacchariduria, Atelectasis, Facial hypotoni...	ORPHA:365
Tick-Borne Encephalitis	Anorexia, Abnormal brainstem MRI signal intensity, Hyperkinetic movements, Abnormal glossopharyng...	ORPHA:297
Familial Cervical Artery Dissection	Paralysis, Facial palsy	ORPHA:36382
Meckel Syndrome, Type 8	Abdominal distention, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:613885
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Mitochondrial Complex I Deficiency, Nuclear Type 32	Cerebral atrophy, Death in childhood, Vomiting, Skeletal muscle atrophy, Patent urachus, Respirat...	OMIM:618252
Idiopathic Pulmonary Hemosiderosis	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Respiratory failure, Pulmonary f...	ORPHA:99931
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Hemoglobinuria	ORPHA:90038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:604292
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration	OMIM:615889
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Polycystic kidney dysplasia, Scapular winging, Reye ...	ORPHA:26791
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic paraplegi...	OMIM:307000
Muscular Dystrophy, Congenital, With Or Without Seizures	Abdominal pain, Hypoglycosylation of alpha-dystroglycan, Frequent falls, Ataxia, Dysphagia, Feedi...	OMIM:620166
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Skeletal muscle atrophy, Pau...	OMIM:253310
Fryns Syndrome	Stillbirth, Aganglionic megacolon, Ureteral duplication, Hypospadias, Chylothorax, Dandy-Walker m...	OMIM:229850
Lethal Congenital Contracture Syndrome 2	Degenerative vitreoretinopathy, Hydronephrosis, Skeletal muscle atrophy, Respiratory failure, Art...	OMIM:607598
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Distal amyotrophy, Tr...	OMIM:614298
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Respiratory insufficiency, Hyperechogenic kidneys, Proteinuria, Chr...	OMIM:613845
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis, Neonatal asphyxia, Vocal cord paralysis, Microcephaly	ORPHA:2375
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Optic atrophy, Respiratory insufficiency, ...	OMIM:618329
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Respiratory insufficiency, Spasticity, Tremor, Death in adolescence, Death in i...	OMIM:615512
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Muscular dystrophy, Glomerular sclerosis, Aplasia of the bladder, Ureteroce...	ORPHA:158684
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen	ORPHA:221054
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1466
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Hypoplasia of the corpus callosum, Hypertonia, Elbow flexion contracture, Exaggera...	OMIM:617301
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Intraalveolar phospholipid accumulation, Death in infancy, Neonatal d...	OMIM:265120
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Skeletal muscle atrophy, Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness	OMIM:612300
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Spasticity, Pigmentary retinopathy, Aspiration pneumonia, Frequent falls, Opi...	ORPHA:216866
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Diarrhea, Respiratory insufficiency, Brain atrophy, Tetraplegia,...	OMIM:618278
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Glucose-Galactose Malabsorption	Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Malnutrit...	ORPHA:35710
Cat-Eye Syndrome	Short stature, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Hematochezia, Abnormal cran...	ORPHA:73263
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen	ORPHA:543
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Respiratory insufficiency, Polycystic kidney dysplasia, Lo...	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Death in childhood, Spasticity, Death in infancy, Generalized amyotrophy	OMIM:619423
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Clumsiness, Vocal co...	ORPHA:98757
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Acute kidney injury, Pleural effusion, Respiratory failure, Decreased urine output	ORPHA:542323
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Episodic ab...	ORPHA:94080
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Inflammatory Pseudotumor Of The Liver	Vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:90003
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Cerebral palsy, Constipation, Respiratory insufficiency due to muscle we...	ORPHA:230800
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Liver Failure, Infantile, Transient	Abdominal distention, Dicarboxylic aciduria, Death in infancy, Vomiting, Acute hepatic failure, 3...	OMIM:613070
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnorma...	OMIM:272750
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Protuberant abdomen, Pulmonary cyst	OMIM:618272
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Retinal arterial tortuosity, Limb hypertonia, Hydranencephaly, Respiratory insuffici...	OMIM:620371
Qazi-Markouizos Syndrome	Abdominal distention, Torticollis, Chronic constipation	ORPHA:3010
Adrenoleukodystrophy	Limb ataxia, Urinary incontinence, Incoordination, Truncal ataxia, Bowel incontinence, Urinary bl...	OMIM:300100
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Renal hypoplasia, Neonatal death, Pulmonary hypoplasia, I...	OMIM:269860
Volvulus Of Midgut	Constipation, Abdominal distention, Neonatal intestinal obstruction	OMIM:193250
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Hyperkinetic movements, Poor co...	ORPHA:391428
Mercury Poisoning	Anorexia, Acute kidney injury, Episodic vomiting, Tremor, Episodic abdominal pain, Respiratory fa...	ORPHA:330021
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Hartsfield Syndrome	Lobar holoprosencephaly, Microphthalmia, Encephalocele	ORPHA:2117
Congenital Toxoplasmosis	Intrauterine growth retardation, Microphthalmia, Ascites	ORPHA:858
Inhalational Botulism	Paralysis, Diarrhea, Constipation, Nausea and vomiting, Urinary retention	ORPHA:254504
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Paroxysmal dyskinesia, Oral-pharyngeal dysphagia, Facial hypotoni...	ORPHA:2131
Surfactant Metabolism Dysfunction, Pulmonary, 2	Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, N...	OMIM:610913
Angioedema, Hereditary, 1	Axonal degeneration, Diarrhea, Abdominal pain, Peripheral axonal neuropathy, Vomiting	OMIM:106100
Lujo Hemorrhagic Fever	Atelectasis, Diarrhea, Resting tremor, Fulminant hepatitis, Vomiting, Nausea, Abdominal cramps, M...	ORPHA:319213
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Hydroureter, Fetal megacystis, Hydronephrosis, Neonatal death	OMIM:619362
Congenital Myopathy 15	Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diameter, Weakness of ...	OMIM:620161
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Constipation, Macroglossia, Protuberant abdomen, Feeding difficulties in in...	ORPHA:226313
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction, Skeletal muscle atrophy, Mala...	ORPHA:1876
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:613101
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Babinski sign, Pneumonia, Abnormal cranial ne...	ORPHA:79138
Ethylene Glycol Poisoning	Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Facial ...	ORPHA:31826
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Megabladder, Congenital	Stage 5 chronic kidney disease, Fetal megacystis, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections	ORPHA:922
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Cerebral atrophy, Gastroesophageal reflux, Homocystinuria, Feeding difficulti...	OMIM:614857
Achondrogenesis Type 1A	Abdominal distention, Aplasia/Hypoplasia of the lungs	ORPHA:93299
Donohue Syndrome	Intrauterine growth retardation, Abdominal distention, Skeletal muscle atrophy, Long penis	OMIM:246200
Gitelman Syndrome	Polyuria, Hypocalciuria, Renal potassium wasting, Abdominal pain, Enuresis, Vomiting, Constipatio...	OMIM:263800
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Death in childhood, Respiratory insufficiency, Poor suck, Tremor, Optic neuropathy...	OMIM:610505
Neurodegeneration With Brain Iron Accumulation 5	Cerebral atrophy, Bradykinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous system phy...	OMIM:300894
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R...	OMIM:608647
Hemophagocytic Lymphohistiocytosis, Familial, 4	Lymphadenopathy, Splenomegaly	OMIM:603552
Neuroblastoma	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:635
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Atelectasis, Torticollis, Repeated pneumothoraces, Respiratory insufficiency, Hyd...	ORPHA:536467
Junctional Epidermolysis Bullosa With Pyloric Atresia	Abdominal distention, Hematuria, Renal dysplasia, Aplasia of the bladder, Ureterocele, Hydronephr...	ORPHA:79403
Seckel Syndrome 2	Short stature, Microphthalmia, Growth delay, Heart murmur	OMIM:606744
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V...	OMIM:615237
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Progressive...	OMIM:245200
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Diarrhea,...	ORPHA:18
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Constipation, Hy...	OMIM:236730
Lassa Fever	Oliguria, Miscarriage	ORPHA:99824
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Niemann-Pick Disease Type C	Chorea, Ataxia, Dysphagia, Myoclonus, Clumsiness, Tremor, Cataplexy, Abnormal lung morphology, Fe...	ORPHA:646
Scedosporiosis	Pleuritis, Bronchitis, Abnormal renal morphology, Pleural empyema, Apical pulmonary opacity, Pulm...	ORPHA:449280
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Ureteral duplication, Renal duplication, Secretory diarrhea, Optic disc col...	OMIM:270420
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Oligosacchariduria, Facial hypotonia, Respira...	ORPHA:308552
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Abnormal retinal vascular morphology, Oliguria, Renal insufficiency	ORPHA:727
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus	OMIM:611134
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Neonatal inspiratory stridor, Periodic h...	ORPHA:684
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Hamstring contracture...	OMIM:310200
Combined Oxidative Phosphorylation Deficiency 4	Spasticity, Death in infancy, Opisthotonus, Intrauterine growth retardation, Respiratory failure	OMIM:610678
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, 3-Methylglutaconic aciduria, Hypertonia, Poor suck, Tremor, Clonus, Death in in...	OMIM:617248
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Immunodeficiency 27A	Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly	OMIM:209950
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Minimal change glomerulonephritis, Nephrotic range proteinuria, Focal segme...	ORPHA:1830
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Abdominal distention, Abnormal superior cerebellar peduncle morphology, Spinal cord tum...	ORPHA:370348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Boutonneuse Fever	Diarrhea, Abdominal pain, Nausea, Respiratory failure, Renal insufficiency	ORPHA:83313
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Intrauterine gr...	OMIM:609981
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Diarrhea, Abdominal pain, Bronchitis, Neonatal asphyx...	ORPHA:420741
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Chronic constipation, Feeding difficulties, Episodic vomiting	OMIM:619483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Muscular dystrophy, Retinal dystrophy, Cerebellar vermis hypop...	OMIM:616538
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Elongated superior cerebellar peduncle, Oculomotor apraxia, Renal c...	OMIM:615636
Multiple Endocrine Neoplasia Type 2	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:653
Diaphanospondylodysostosis	Enlarged kidney, Respiratory insufficiency, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypo...	OMIM:608022
Primary Peritoneal Carcinoma	Constipation, Abdominal distention, Nausea and vomiting, Abdominal pain	ORPHA:168829
Neurodegeneration With Brain Iron Accumulation 3	Hypomimic face, Babinski sign, Bradykinesia, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Urinary retention, Tremor, Constipation, Rhabdomyolysis, Peri...	ORPHA:79102
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cerebral atrophy, Hypertonia, Stillbirth, Limb hypertonia, Hydrocephalus, Facial p...	OMIM:259720
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Myoglobinuria, Rhabdomyolysis, Feeding difficulties, Respiratory failu...	OMIM:609015
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Nausea and vomiting, Paralysis, Abnormal autonomic nervous system physiology	ORPHA:83601
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden...	OMIM:602450
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Abnormality of the upper urinary tract, Aplasia/Hypoplasia of th...	ORPHA:2145
Autoimmune Lymphoproliferative Syndrome, Type Iii	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph...	OMIM:615559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia	OMIM:613155
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia, Ataxia, Agenesis of corpus cal...	ORPHA:255138
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Metatropic Dysplasia	Respiratory insufficiency, Peripheral axonal neuropathy, Flexion contracture, Respiratory failure...	OMIM:156530
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Respiratory insufficiency, Poor suck, Chronic hepatic failure, Frequent falls, Ske...	ORPHA:746
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Cap Polyposis	Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia	ORPHA:160148
Gaucher Disease, Type Ii	Cerebral atrophy, Hypertonia, Gastroesophageal reflux, Oculomotor apraxia, Spasticity, Bronchioli...	OMIM:230900
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Wilson Disease	Face of the giant panda sign, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:277900
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:276621
Cerebrooculofacioskeletal Syndrome 1	Death in childhood, Brain atrophy, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, ...	OMIM:214150
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microphthalmia, Short stature, Umbilical hernia, Edema	ORPHA:2505
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis, Myopathy	OMIM:170400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Feeding difficulties in infancy, Renal cyst, Death in infancy	OMIM:614862
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:48431
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper...	ORPHA:99956
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, 3-Methylglutaconic aciduria, Hypertonia, Aciduria, Cerebral cortical neurodegen...	OMIM:203700
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Death in infancy, Intrauterine growth retardation, Hypertonia, Aganglionic me...	OMIM:270400
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Spasticity, Cataplexy, Death in infancy, Ataxia, D...	OMIM:607625
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Right ventricular hypertrophy, Left ventricular hypertro...	ORPHA:444013
Fanconi-Bickel Syndrome	Abdominal distention, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Hyperpho...	ORPHA:2088
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Cerebral corti...	ORPHA:2842
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Rod-cone dystrophy	OMIM:606996
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Rigidity, Ataxia, Dysphagia, Myopathy, Optic atrophy, Babinski sign, Tremor...	OMIM:234200
Congenital Tufting Enteropathy	Abdominal distention, Steatorrhea, Chronic diarrhea, Vomiting, Secretory diarrhea, Malabsorption,...	ORPHA:92050
Meckel Syndrome 14	Pneumothorax, Abdominal distention, Polycystic kidney dysplasia, Pulmonary hypoplasia, Cardioresp...	OMIM:619879
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,...	OMIM:601650
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Nephrocalcinosis, Multiple renal cysts, Nephrolithiasis, Malabsorption, Proxima...	ORPHA:534
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, EMG: myopathic abnormalities, Vomiting, Fat malabsor...	ORPHA:71
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Death in childhood, Proximal tubulopathy, Death in adolescence, Ataxia, Myoclonus, Pigm...	OMIM:560000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Flexion contracture of...	ORPHA:254528
Mucopolysaccharidosis Type 3	Optic atrophy, Intermittent diarrhea, Hypertonia, Spasticity, Central nervous system degeneration...	ORPHA:581
Cholera	Acute kidney injury, Miscarriage, Aspiration pneumonia, Abnormality of renal excretion, Decreased...	ORPHA:173
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Wolman Disease	Abdominal distention, Steatorrhea, Nausea and vomiting, Malnutrition, Hepatic failure	ORPHA:75233
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Neurodegeneration With Brain Iron Accumulation 2B	Cerebral atrophy, Babinski sign, Hypertonia, Bradykinesia, Optic atrophy, Chorea, Spasticity, Dys...	OMIM:610217
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Death in infancy, Hydronephrosis, Pulmonary lymphangiectasia, Micropenis, H...	OMIM:235255
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Fraser Syndrome 2	Abdominal distention, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder...	OMIM:617666
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Desmoplastic Small Round Cell Tumor	Abdominal distention, Abdominal pain, Neoplasm of the lung, Nausea and vomiting, Ileus	ORPHA:83469
Yellow Fever	Acute kidney injury, Anuria, Renal insufficiency	ORPHA:99829
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Microphthalmia	OMIM:602501
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Bilateral fetal pyelectasis, Knee flexion contracture, Duplicated collecting system, Lower limb s...	OMIM:300868
Ciliary Dyskinesia, Primary, 1	Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronchiectasis, Pneumonia	OMIM:244400
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Distal amyotrophy, Limb muscle weakness, Vocal cord paresis, Decreased motor nerve...	OMIM:601152
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha...	ORPHA:891
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37748
Mucopolysaccharidosis, Type Vii	Diastasis recti, Dermatan sulfate excretion in urine, Neurodegeneration, Flexion contracture, Rec...	OMIM:253220
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Optic atrophy, Gastrointestinal hemorrhage, Aganglionic megacolon, Atelec...	ORPHA:567
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Emphysema, Microcephaly, Bladder diverticulum, Recurrent respira...	OMIM:219100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Listeriosis	Acute kidney injury, Abnormal brainstem MRI signal intensity, Diarrhea, Abdominal pain, Miscarria...	ORPHA:533
Congenital Fiber-Type Disproportion Myopathy	Respiratory insufficiency due to muscle weakness, Flexion contracture of finger, Dysphagia, Type ...	ORPHA:2020
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Urethral stricture, P...	ORPHA:79404
Multicystic Dysplastic Kidney	Abdominal distention, Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruc...	ORPHA:1851
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Respiratory f...	ORPHA:178320
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Chiari type I malformation, Oral-pharyngeal dysphagia...	ORPHA:221098
Ovarian Fibroma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:314473
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Respiratory failure, Primary microcephaly, Camptodactyly	OMIM:618804
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Abdominal pain, Recurrent urinary tract infections, Nausea, Recur...	ORPHA:51890
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia, Reduced systolic function	OMIM:618805
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Hypospadias, Tube feeding, Feeding ...	OMIM:619479
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Diastasis recti, Hypospadias, Protuberant abdomen	ORPHA:457485
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia, Recurrent respiratory infections, Atelectasis	ORPHA:2314
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Pulmonary Alveolar Microlithiasis	Ground-glass opacification, Pneumothorax, Pleural thickening, Hematuria, Respiratory insufficienc...	ORPHA:60025
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy	OMIM:619053
Fanconi-Bickel Syndrome	Abdominal distention, Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta ...	OMIM:227810
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the lung, Nausea, ...	ORPHA:100085
Renal Tubular Acidosis Iii	Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:267200
Thanatophoric Dysplasia, Type I	Pulmonary hypoplasia, Neonatal respiratory distress, Neonatal death, Protuberant abdomen	OMIM:187600
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Abnormal optic nerve morphology, Choroideremia, Microcephaly, Respiratory failure,...	ORPHA:2707
Nephronophthisis 9	Polyuria, Nephronophthisis, Renal cortical microcysts, Retinal degeneration, Stage 5 chronic kidn...	OMIM:613824
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Hereditary Fructose Intolerance	Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti...	ORPHA:469
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the corpus callosum, Muscular dystrophy, Microcephaly, Hypoplasia of the pons, Cere...	ORPHA:88618
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:29072
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Monosomy 18P	Short stature, Microphthalmia, Hypertension, Lymphedema	ORPHA:1598
Bardet-Biedl Syndrome 17	Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Micropeni...	OMIM:615994
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature	ORPHA:290
Vacterl/Vater Association	Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis...	ORPHA:887
Colchicine Poisoning	Oliguria, Renal insufficiency, Cardiorespiratory arrest	ORPHA:31824
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Cerebral atrophy, Optic atrophy, Oral-pharyngeal dysphagia, Myoglobinuria, ...	OMIM:616878
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Respiratory insufficiency, Tongue fasciculations, Distal amyotrophy, Cerebellar at...	ORPHA:99949
Sandifer Syndrome	Hematemesis, Abnormal posturing, Torticollis, Episodic vomiting, Gastroesophageal reflux, Esophag...	ORPHA:71272
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Retinopathy,...	ORPHA:2396
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Currarino Syndrome	Abdominal distention, Urinary incontinence, Recurrent urinary tract infections, Neurogenic bladde...	OMIM:176450
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Kanzaki Disease	Cerebral atrophy, Increased urinary O-linked sialopeptides, Axonal degeneration, Peripheral axona...	OMIM:609242
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Urinary incontinence, Hydrocephalus, Neonatal death, Respirato...	OMIM:616482
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Peritoneal Cystic Mesothelioma	Constipation, Abdominal distention, Abdominal pain	ORPHA:168816
Sepsis In Premature Infants	Oliguria, Reversible renal failure	ORPHA:90051
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Hurler Syndrome	Dermatan sulfate excretion in urine, Neurodegeneration, Flexion contracture, Recurrent respirator...	OMIM:607014
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Abdominal distention, Gastroparesis, Abdominal pain	OMIM:277320
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Thyroid Hemiagenesis	Constipation, Abdominal distention, Macroglossia	ORPHA:95719
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Fasciculations, Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skel...	OMIM:619574
Adult Acute Respiratory Distress Syndrome	Pneumonia, Respiratory failure, Pulmonary infiltrates, Pulmonary edema	ORPHA:70578
Sialuria	Poor fine motor coordination, Macroglossia, Protuberant abdomen, Increased level of N-acetylneura...	OMIM:269921
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Diarrhea, Dermatan sulfate excretion in urine, Papilledema, Recurr...	OMIM:309900
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Emphysema, Respiratory insufficiency, Recurrent urina...	ORPHA:90349
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Hematochezia	ORPHA:103910
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:610756
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis	OMIM:616963
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	OMIM:300863
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Corticospinal tract hypoplasia, Retinal detachment, Abnormality of the ...	ORPHA:819
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Respiratory failure, Recurrent respiratory infections	ORPHA:3226
Necrotizing Enterocolitis	Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom...	ORPHA:391673
Ovarian Fibrothecoma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:314478
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Splenomegaly	OMIM:614470
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Allergic Bronchopulmonary Aspergillosis	Emphysema, Respiratory insufficiency, Abnormal eosinophil morphology, Cerebral cortical atrophy, ...	ORPHA:1164
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Splenomegaly	OMIM:607594
Nephroblastoma	Lymphadenopathy	ORPHA:654
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Abnormal renal morphology, Hydronephrosis, Pulmonary lymphangiectasia, Micr...	ORPHA:1655
Malignant Atrophic Papulosis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abdominal pain, Pleural effusion, Naus...	ORPHA:679
Vici Syndrome	Abnormal posturing, Cerebellar vermis hypoplasia, Microcephaly, Macular atrophy, Hypopigmentation...	OMIM:242840
Rift Valley Fever	Hematuria, Decerebrate rigidity, Miscarriage, Retinal hemorrhage, Retinal vasculitis, Paraparesis...	ORPHA:319251
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen, Flexion contracture	OMIM:613330
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis	OMIM:143880
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Periodic paralysis	OMIM:188580
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia, Communicating hydrocephalus	ORPHA:1861
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia, Arrhythmia	ORPHA:3191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Microphthalmia	OMIM:613153
Hydrolethalus	Hydrocephalus, Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Urethral diverticulum, Displacement of the urethral meatus, Vent...	ORPHA:95706
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Pseudohypoaldosteronism Type 2	Nausea and vomiting, Periodic paralysis	ORPHA:757
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay	ORPHA:85284
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Acute hepatic failure, Ske...	OMIM:256810
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Pulmonary hypoplasia	ORPHA:85166
Castleman Disease	Intestinal obstruction, Abdominal distention, Hematuria, Abdominal pain, Ureteral obstruction, Na...	ORPHA:160
Arima Syndrome	Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointerstitial fibro...	OMIM:243910
Whim Syndrome	Limb ataxia, Atelectasis, Poor fine motor coordination, Bronchiectasis, Recurrent pneumonia, Resp...	ORPHA:51636
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Microphthalmia, Holoprosencephaly, Anophthalmia	ORPHA:77298
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Asplenia	OMIM:614034
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Intrauterine growth retardation, M...	ORPHA:73246
Trisomy 13	Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi...	ORPHA:3378
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Thyroid Hypoplasia	Constipation, Abdominal distention, Macroglossia	ORPHA:95720
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Recurrent respiratory infections	ORPHA:2759
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Lysosomal Acid Lipase Deficiency	Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Renal salt wasting, Di...	ORPHA:275761
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Abnormal lung lobation, Syringomyelia, Partial anomalous pulmonary venous return, Hydroureter, Hy...	OMIM:265380
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Heart murmur	ORPHA:2728
Interstitial Cystitis	Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the...	ORPHA:37202
Mirizzi Syndrome	Anorexia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Dark urine, Abdominal colic	ORPHA:521219
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Oligomeganephronia	Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat...	ORPHA:2260
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature	OMIM:614833
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Celiac Disease, Susceptibility To, 1	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Vomiting, Ataxia	OMIM:212750
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Ovarian Hyperstimulation Syndrome	Abdominal distention, Pulmonary edema, Abdominal pain, Pleural effusion, Nausea, Nausea and vomiting	ORPHA:64739
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Facial palsy, Pleural effusi...	OMIM:612387
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Gastroesophageal reflux, Lower limb spasticity, ...	OMIM:617799
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Glycogen Storage Disease Ia	Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Fo...	OMIM:232200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Recurrent respiratory infections, Neurodegeneration	OMIM:620210
Gitelman Syndrome	Urinary incontinence, Paralysis, Renal tubular acidosis, Diarrhea, Abdominal pain, Renal potassiu...	ORPHA:358
Schimke Immunoosseous Dysplasia	Renal insufficiency, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Intraut...	OMIM:242900
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Facial diplegia, Respiratory insufficiency due to muscle weakness,...	ORPHA:273
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Death in childhood, Episodic vomiting, Diarrhea, Chorea, Myoclonus, Gait ataxia...	OMIM:618321
Radio-Renal Syndrome	Renal hypoplasia/aplasia, Chylothorax, Pleural effusion, Renal agenesis, Renal dysplasia, Respira...	ORPHA:3015
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Epispadias, Abnormal vitreous humor morphology, Hypospadias, Ret...	ORPHA:2556
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Solitary Median Maxillary Central Incisor	Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:147250
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Death in childhood, Recurrent bronchitis, Diastasis recti, Camptodactyly, Mucopo...	OMIM:252500
Idiopathic Hypereosinophilic Syndrome	Abdominal distention, Chronic diarrhea, Abdominal pain, Pleural effusion, Vomiting, Malabsorption...	ORPHA:3260
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Menkes Disease	Gastrointestinal hemorrhage, Hypertonia, Chorea, Spasticity, Intrauterine growth retardation, Mal...	ORPHA:565
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	ORPHA:163966
Spondylo-Ocular Syndrome	Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ...	ORPHA:85194
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis, Poor fine motor coordination, Involuntary movements, ...	ORPHA:268943
Oculoauriculovertebral Spectrum With Radial Defects	Renal hypoplasia/aplasia, Vesicoureteral reflux, EMG: myopathic abnormalities, Distal urethral du...	ORPHA:2549
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Gracile Bone Dysplasia	Short stature, Microphthalmia, Aniridia, Ascites	OMIM:602361
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine	OMIM:215600
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Pulmonary hypoplasia, Urethral atresia	OMIM:271520
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Microphthalmia, Abnormally large globe	OMIM:615249
Shigellosis	Anorexia, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Abdominal pa...	ORPHA:810
Tuberous Sclerosis Complex	Retinal hamartoma, Abnormality of the kidney, Pancreatic endocrine tumor, Pheochromocytoma, Polyc...	ORPHA:805
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Chronic diarrhea, Pollakisuria, Recurrent pneumonia, Recurrent sinopulmonary in...	ORPHA:647
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Respiratory insufficiency, Urogenital sinus anomaly, Hydro...	ORPHA:2973
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Vocal cord paralysis, Dysphagia, Neoplasm of the lung	ORPHA:142
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections	OMIM:620296
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly	OMIM:618935
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Friedreich Ataxia 2	Babinski sign, Incoordination, Abnormal pyramidal tract morphology, Ataxia, Abnormality of periph...	OMIM:601992
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Cerebellar atrophy, Joint contracture, Ataxia, Dysphagia, Neurod...	OMIM:615919
Letterer-Siwe Disease	Abdominal distention, Pulmonary infiltrates	OMIM:246400
Costello Syndrome	Pneumothorax, Enlarged cerebellum, Rhabdomyosarcoma, Cerebral atrophy, Chiari type I malformation...	OMIM:218040
Exercise-Induced Malignant Hyperthermia	Oliguria, Acute kidney injury, Rhabdomyolysis, Ataxia	ORPHA:466650
Chand Syndrome	Hydroureter, Atelectasis, Ataxia	ORPHA:1401
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Peripheral hypomyelination, Chronic axonal neuropathy, Hypocalciuri...	OMIM:612780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Global brain atrophy, Emphysema, Horseshoe kidney, Gastroparesis, Gastroesophageal...	ORPHA:500150
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Miscarriage, Vesicoureteral reflux, Ureteropelvi...	ORPHA:2438
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hypertension, Growth delay, Intracranial hemorrhage	OMIM:614424
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Renal hypoplasia, Periodic paralysis, Periodic hypokalemic pares...	ORPHA:37553
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Adams-Oliver Syndrome 2	Hydrocephalus, Microphthalmia	OMIM:614219
Roifman Syndrome	Lymphadenopathy, Splenomegaly	OMIM:616651
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Dyggve-Melchior-Clausen Disease	Spastic tetraparesis, Frequent falls, Limb muscle weakness, Respiratory insufficiency due to musc...	ORPHA:239
Leishmaniasis	Lymphadenopathy, Splenomegaly	ORPHA:507
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:601859
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Hepatic failure, Death in infancy, 4-Hydroxyphenylpyruvic aciduria, Intraut...	OMIM:617156
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cholesteryl Ester Storage Disease	Steatorrhea, Diarrhea, Death in infancy, Vomiting, Acute hepatic failure, Protuberant abdomen, He...	OMIM:278000
Glioblastoma	Paralysis	ORPHA:360
Williams Syndrome	Hypoplasia of penis, Nephrocalcinosis, Ataxia, Multiple renal cysts, Abnormal tubulointerstitial ...	ORPHA:904
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele	ORPHA:370959
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:603909
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Abetalipoproteinemia	Babinski sign, Distal lower limb muscle weakness, Steatorrhea, Chronic diarrhea, Upper motor neur...	ORPHA:14
Congenital Fibrinogen Deficiency	Tachycardia, Microphthalmia, Internal hemorrhage	ORPHA:335
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cerebral atrophy, Abnormal pulmonary interstitial morphology, Emphysema...	OMIM:613658
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Melena,...	OMIM:276700
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi...	OMIM:168000
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cerebral Visual Impairment	Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Cerebral palsy, Central nervous system...	ORPHA:447788
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia	OMIM:617244
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary retention, Urinary incontinence, Dysuria, Abnormality of the urethra	ORPHA:2795
Bloom Syndrome	Pneumonia, Gastroesophageal reflux, Bronchitis, Recurrent urinary tract infections, Poor appetite...	ORPHA:125
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Stillbirth, Protuberant abdomen	OMIM:151210
Arboleda-Tham Syndrome	Optic atrophy, Gastroesophageal reflux, Lower limb amyotrophy, Recurrent urinary tract infections...	OMIM:616268
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Dysuria, Acute hepatic failure, Dysphagia,...	ORPHA:36426
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Encephalocele, Ascites, Portal hypertension, Pulmona...	ORPHA:974
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Microphthalmia, Postnatal growth retardation, Short stature	OMIM:243310
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Type 1 Diabetes Mellitus	Polyuria	OMIM:222100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension, Short stature, Intrauterine growth retardation, Oligohydramnios, Edema	OMIM:617729
African Trypanosomiasis	Urinary incontinence, Myelitis, Diarrhea, Fasciculations, Miscarriage, Tremor, Involuntary moveme...	ORPHA:3385
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Opsismodysplasia	Respiratory insufficiency, Recurrent respiratory infections, Protuberant abdomen, Renal phosphate...	OMIM:258480
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Chorea, Exaggerated startle response, Abnormal pyramidal sign, Neurodegeneratio...	ORPHA:309246
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abdominal pain, Dysuria, Acute hepatic failure, Dysphagia, Malabsorp...	ORPHA:537
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Optic disc hypoplasia, Vesicoureteral reflux, Ch...	ORPHA:959
Histiocytoid Cardiomyopathy	Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Pulmona...	ORPHA:137675
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure	OMIM:135100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Feeding difficulties, Skeletal muscle atrophy, Type 1 muscle fiber predomin...	OMIM:614557
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Chiari type I malformation, Dandy-Walker malformation, Spasticity, Rigidity, Ataxi...	OMIM:618476
Vitreoretinochoroidopathy	Vitreous hemorrhage, Microphthalmia, Retinal neovascularization	OMIM:193220
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:494344
Fanconi Renotubular Syndrome 5	Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f...	OMIM:618913
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Atelectasis, Pulmonary artery steno...	OMIM:615067
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Williams-Beuren Syndrome	Abnormal renal morphology, Incoordination, Nephrocalcinosis, Urethral stenosis, Intrauterine grow...	OMIM:194050
Cardiogenic Shock	Oliguria	ORPHA:97292
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Protuberant abdomen, Generalized aminoaciduria	OMIM:264700
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Cerebral atrophy, Hematuria, Generalized aminoaciduri...	OMIM:219800
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Neonatal death, Urethral atresia	OMIM:314390
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Cerebellar hypoplasia, Protuberant abdomen, Spina bifida	OMIM:616038
Peripartum Cardiomyopathy	Respiratory failure, Abdominal pain, Left ventricular hypertrophy	ORPHA:563
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Griscelli Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:381
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Temtamy Syndrome	Microphthalmia, Aortic regurgitation	OMIM:218340
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Fibrochondrogenesis 1	Stillbirth, Protuberant abdomen, Camptodactyly, Joint contracture of the hand	OMIM:228520
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting	OMIM:618314
Primary Myelofibrosis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Frontofacionasal Dysplasia	Short stature, Microphthalmia, Encephalocele	ORPHA:1791
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Relapsing Polychondritis	Glomerulopathy, Hematuria, Atelectasis, Proteinuria, Renal insufficiency	ORPHA:728
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616395
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Schneckenbecken Dysplasia	Stillbirth, Protuberant abdomen	OMIM:269250
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Hereditary Spherocytosis	Abdominal distention, Abdominal pain, Ataxia	ORPHA:822
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Episodic abdominal pain, Nausea, Neuroendocrine neoplasm	ORPHA:100086
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:609053
Lymphoproliferative Syndrome, X-Linked, 1	Lymphadenopathy, Splenomegaly	OMIM:308240
Leprechaunism	Abdominal distention, Enlarged kidney, Long penis, Hypercalciuria, Severe intrauterine growth ret...	ORPHA:508
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypoplasia of the corpus callosum, Abnormal pulmonary interstitial morphology, Hyper...	ORPHA:2072
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Right ventricular hypertrophy, Intrauterine g...	ORPHA:555874
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Ear-Patella-Short Stature Syndrome	Epispadias, Hypospadias, Hypoplasia of penis, Camptodactyly of finger, Feeding difficulties, Intr...	ORPHA:2554
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor...	OMIM:605373
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy	OMIM:619644
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Abnormality of the urethra	ORPHA:752
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio...	OMIM:225400
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Abnormal lower motor neuron morphology	ORPHA:93941
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Retinal dystrophy, Tubulointerstitial fibrosis, Impaired renal concen...	OMIM:266900
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Nephropathy, Focal segmental glomerulosclerosis...	OMIM:194080
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Reti...	OMIM:613550
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Garg-Mishra Progeroid Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:620601
Zttk Syndrome	Dysplastic corpus callosum, Polyuria, Optic atrophy, Hypoplasia of the corpus callosum, Unilatera...	OMIM:617140
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula...	OMIM:300952
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Abdominal distention, Gastrointestinal inflammation, Respiratory failure requiring assi...	ORPHA:95455
Autosomal Dominant Cutis Laxa	Emphysema, Unilateral renal agenesis, Bronchiolitis, Intrauterine growth retardation, Vomiting, F...	ORPHA:90348
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Andersen Cardiodysrhythmic Periodic Paralysis	Microcephaly, Periodic paralysis, Scapular winging, Periodic hypokalemic paresis	OMIM:170390
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Pleural effusion, Recurrent pneumonia, Atelectasis	OMIM:306400
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	OMIM:301078
Liver Disease, Severe Congenital	Abdominal distention, Pneumonia, Pulmonary edema, Hypospadias, Diarrhea, Recurrent urinary tract ...	OMIM:619991
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal...	OMIM:607364
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t...	OMIM:609049
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Achondrogenesis, Type Ii	Stillbirth, Protuberant abdomen	OMIM:200610
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Digeorge Syndrome	Atelectasis, Unilateral renal agenesis, Gastroesophageal reflux, Hemiparesis, Recurrent pneumonia...	OMIM:188400
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Intrauterine growth retardation, O...	ORPHA:99776
Schinzel-Giedion Syndrome	Hypertonia, Aganglionic megacolon, Chiari type I malformation, Hypospadias, Spasticity, Vocal cor...	ORPHA:798
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abdominal distention, Hypoplasia of penis, Respiratory insufficiency, Dandy-Walker malformation, ...	ORPHA:93271
Immunodeficiency 97 With Autoinflammation	Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Refsum Disease	Microphthalmia, Heart block, Cardiomyopathy	ORPHA:773
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Edema	OMIM:302960
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k...	OMIM:606966
Tafro Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	ORPHA:457077
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:251230
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Glycogen Storage Disease Ib	Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental glomerulo...	OMIM:232220
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Colonic Atresia	Abdominal distention	ORPHA:1198
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Diastasis recti, Left ventricular hypertrophy...	ORPHA:576
Warburg Micro Syndrome 4	Short stature, Microphthalmia, Severe postnatal growth retardation	OMIM:615663
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
Microphthalmia/Coloboma 12	Growth delay, Microphthalmia, Optic nerve aplasia	OMIM:120200
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	OMIM:248700
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Laryngeal Abductor Paralysis	Microcephaly, Vocal cord paralysis	OMIM:150260
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Lymphoproliferative Syndrome 1	Lymphadenopathy, Splenomegaly	OMIM:613011
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Immunodeficiency 10	Lymphadenopathy, Splenomegaly	OMIM:612783
Micro Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:2510
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly	ORPHA:169090
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Biliary, Renal, Neurologic, And Skeletal Syndrome	Stage 5 chronic kidney disease, Abdominal distention, Aqueductal stenosis, Frontotemporal cerebra...	OMIM:619534
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Mowat-Wilson Syndrome	Abdominal distention, Abnormality of the kidney, Aganglionic megacolon, Hypospadias, Pulmonary ar...	OMIM:235730
Arterial Tortuosity Syndrome	Gastroesophageal reflux, Esophagitis, Pulmonary artery stenosis, Cardiorespiratory arrest, Respir...	ORPHA:3342
Martsolf Syndrome 1	Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy, Short stature	OMIM:212720
Myhre Syndrome	Skeletal muscle hypertrophy, Respiratory insufficiency, Camptodactyly, Microcephaly, Generalized ...	OMIM:139210
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Respiratory failure, Intrauterine growth retardation	ORPHA:158687
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:603467
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Diastasis recti, Camptodactyly, Pulmonary artery stenosis, Interphalangeal joint con...	ORPHA:96334
Achondrogenesis, Type Ia	Pulmonary hypoplasia, Stillbirth, Protuberant abdomen	OMIM:200600
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen	OMIM:277440
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Nephrocalcinosis	OMIM:620152
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Moebius Syndrome	Microphthalmia	OMIM:157900
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Orthostatic hypotension, Hepati...	ORPHA:186
Cinca Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:1451
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Tethered cord, Renal hypoplasia, Unilateral vocal cord paresis, Spinal dys...	OMIM:617660
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85450
Felty Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:47612
Occipital Horn Syndrome	Orthostatic hypotension, Chronic diarrhea, Ureteral obstruction, Hydronephrosis, Bladder divertic...	OMIM:304150
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Feeding difficulties, Myopathy, Skeletal muscle atrophy	ORPHA:536545
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly, Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ur...	OMIM:129900
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Papillorenal Syndrome	Short stature, Microphthalmia, Hypertension, Edema	OMIM:120330
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Urethral stricture, Atax...	OMIM:613990
Walker-Warburg Syndrome	Hydrocephalus, Microphthalmia, Anophthalmia	ORPHA:899
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit...	OMIM:248250
X-Linked Acrogigantism	Abdominal distention, Ataxia	ORPHA:300373
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Diarrhea, Tubulointerstitial fibrosis, Nephrolithiasis, Protuberant abdomen, Inf...	ORPHA:79259
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Incontinentia Pigmenti	Congestive heart failure, Microphthalmia, Spina bifida occulta, Cerebral ischemia, Retinal hemorr...	ORPHA:464
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Aminoaciduria	OMIM:239200
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Elbow flexion contracture, Protuberant abdomen, Camptodactyly	ORPHA:56304
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Adult-Onset Still Disease	Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:829
Hypocalcemic Vitamin D-Dependent Rickets	Protuberant abdomen, Generalized aminoaciduria	ORPHA:289157
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Distal renal tubular acidosis	OMIM:259730
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Microphthalmia, Hypoplasia of the iris	OMIM:613001
Teratoma, Pineal	Polyuria, Hemiparesis	OMIM:273120
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Holoprosencephaly	OMIM:612530
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Urinary bladder inflammation, Acute kidney injury, Abd...	ORPHA:449395
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele, Pulmonic stenosis, Short stature	OMIM:619148
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Aortic regurgitation, Ascites, Increased nuchal translucency, Sho...	ORPHA:1052
Thyroid Ectopia	Constipation, Abdominal distention, Macroglossia, Dysphagia	ORPHA:95712
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hypertonia, Hydroureter, Spasticity, Abnormality of the upper urinary ...	ORPHA:2636
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Colitis	ORPHA:309031
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Diarrhea, Recurrent bronchitis, Recurrent urinary tract infections, Recurrent p...	OMIM:251260
Legionnaires Disease	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:549
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Nocardiosis	Anorexia, Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Vomiting, Pneumonia, Respiratory ...	ORPHA:31204
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U...	OMIM:618612
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum	ORPHA:2976
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Abdominal distention, Bloody diarrhea, Congenital pulmonary airw...	ORPHA:436252
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye	ORPHA:91495
Patent Urachus	Urachal cyst, Recurrent urinary tract infections, Abdominal pain, Congenital posterior urethral v...	ORPHA:431341
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Lipodystrophy, Familial Partial, Type 7	Polyuria, Babinski sign, Orthostatic hypotension, Dysdiadochokinesis, Pleural effusion, Lower lim...	OMIM:606721
Greenberg Dysplasia	Abnormal lung lobation, Stillbirth, Neonatal death, Pulmonary hypoplasia, Protuberant abdomen	OMIM:215140
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Pseudotrisomy 13 Syndrome	Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele	OMIM:264480
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Growth delay, Short stature, Intrauterine growth retar...	ORPHA:3380
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Microphthalmia	ORPHA:435638
Macrophage Activation Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:158061
Atelosteogenesis, Type I	Stillbirth, Neonatal death, Protuberant abdomen	OMIM:108720
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Pallister-Hall Syndrome	Abnormal lung lobation, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Ren...	OMIM:146510
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Spina bifida occulta, Spasticity, Cerebellar atrophy, Pulmonary artery stenosis...	OMIM:301030
Pelvis-Shoulder Dysplasia	Hydrocephalus, Bilateral microphthalmos, Spina bifida, Hydranencephaly	ORPHA:2839
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu...	OMIM:613090
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Hypothyroidism, Congenital, Nongoitrous, 2	Constipation, Abdominal distention, Macroglossia, Feeding difficulties in infancy	OMIM:218700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Penile Agenesis	Hydroureter, Bilateral lung agenesis, Abnormality of the bladder, Bilateral renal agenesis, Atrop...	ORPHA:49
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine growth retardation, Oligohydr...	OMIM:251300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Microphthalmia, Severe postnatal growth retardation	ORPHA:35173
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Occipital Horn Syndrome	Abnormal esophagus physiology, Gastroesophageal reflux, Gastroparesis, Recurrent urinary tract in...	ORPHA:198
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Cranioectodermal Dysplasia 1	Stage 1 chronic kidney disease, Chronic kidney disease, Recurrent respiratory infections, Stage 5...	OMIM:218330
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis, Achilles tendon calcification	OMIM:617994
Viss Syndrome	Pneumothorax, Abdominal distention, Pulmonary artery aneurysm, Emphysema, Gastroesophageal reflux...	OMIM:619472
Microsporidiosis	Anorexia, Intermittent diarrhea, Urethritis, Myositis, Chronic diarrhea, Abdominal pain, Bronchit...	ORPHA:2552
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Proteasome-Associated Autoinflammatory Syndrome 1	Flexion contracture of toe, Elbow flexion contracture, Death in adolescence, Camptodactyly of fin...	OMIM:256040
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypertonia, Tube feeding, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Phimosis, Poor su...	OMIM:620455
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Cat Eye Syndrome	Pulmonic stenosis, Microphthalmia, Short stature, Umbilical hernia	OMIM:115470
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:610377
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer...	OMIM:602522
Joubert Syndrome 2	Hydrocephalus, Microphthalmia, Encephalocele	OMIM:608091
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Babinski sign, Hypertonia, Neurodegeneration	ORPHA:79244
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Familial Hemophagocytic Lymphohistiocytosis	Lymphadenopathy, Splenomegaly	ORPHA:540
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:2714
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Optic atrophy, Flexion contracture of the 2nd finger, Joint contracture of the 5th finger, Feedin...	ORPHA:324540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:615895
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Pleural effusion, Death in infancy, Recurrent upper respiratory tract infections, Renal...	OMIM:618183
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Poor suck, Flexion contracture, Feeding difficulties, Intrauterine growt...	OMIM:614653
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cerebral palsy, Head titubation, Ataxia, Intrauterine growth retardation, Hypertonia, Hypospadias...	OMIM:619475
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia, Telangiectasia	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc...	OMIM:236670
Cohen Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:193
Esophageal Atresia	Hypertonia, Gastroesophageal reflux, Bronchitis, Esophagitis, Vomiting, Renal agenesis, Vocal cor...	ORPHA:1199
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Splenomegaly	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:603553
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Proportionate short stature, Spina...	OMIM:234100
Holoprosencephaly 7	Semilobar holoprosencephaly, Bilateral microphthalmos, Microphthalmia, Alobar holoprosencephaly, ...	OMIM:610828
Hemophagocytic Lymphohistiocytosis, Familial, 1	Lymphadenopathy, Splenomegaly	OMIM:267700
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Degcags Syndrome	Abnormal renal medulla morphology, Hypospadias, Oral-pharyngeal dysphagia, Gastroesophageal reflu...	OMIM:619488
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Telangiectasia	OMIM:278730
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia	ORPHA:2166
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Tremor, Ataxia, Foot dorsiflexor weakness, Neurodegeneration	OMIM:214500
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema	ORPHA:2526
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Mosaic Trisomy 1	Microphthalmia, Polyhydramnios, Increased nuchal translucency	ORPHA:1692
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Pineoblastoma	Paralysis, Papilledema, Retinoblastoma	ORPHA:251909
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Spina bifida, Telangiectasia of the skin, Umbilical hernia	ORPHA:2092
Otopalatodigital Syndrome, Type Ii	Stillbirth, Hypospadias, Respiratory insufficiency, Spina bifida, Hydronephrosis, Respiratory fai...	OMIM:304120
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, Nephro...	OMIM:211900
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Stromme Syndrome	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Polyuria, Medullary nephrocalcinosis	OMIM:300971
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Lobar holoprosencephaly,...	ORPHA:564
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal preputium morphology, Abnorma...	ORPHA:2907
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:250989
Atelis Syndrome 2	Pulmonic stenosis, Microphthalmia, Vitreous hemorrhage, Supravalvar pulmonary stenosis	OMIM:620185
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis, Short stature, Severe short stature, I...	OMIM:601186
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Holoprosencephaly,...	ORPHA:2162
Microphthalmia, Syndromic 3	Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature...	OMIM:206900
Microphthalmia, Lenz Type	Short stature, Microphthalmia	ORPHA:568
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Helix Syndrome	Polyuria, Renal insufficiency, Nephrolithiasis, Hypocalciuria	OMIM:617671
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Gastroesophageal reflux, Vomiting, Nausea, Bladder diverticulum, Chronic...	ORPHA:287
Cousin Syndrome	Hydrocephalus, Microphthalmia, Hydranencephaly	OMIM:260660
Graft Versus Host Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Protuberant abdomen	OMIM:608328
Ulbright-Hodes Syndrome	Pneumothorax, Polycystic kidney dysplasia, Severe intrauterine growth retardation, Renal hypoplas...	ORPHA:3404
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi...	ORPHA:50918
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Hypospadias, Anencephaly, Dandy-Walker malformation, Hydronep...	OMIM:236680
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Dubowitz Syndrome	Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine...	OMIM:223370
Fanconi Anemia	Microphthalmia, Hypertrophic cardiomyopathy, Spina bifida, Short stature, Growth delay, Umbilical...	ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Histiocytoid cardiomyopathy, Short stature, Arrhythmia, Junctional ectopic tachyc...	OMIM:309801
Steinfeld Syndrome	Microphthalmia, Holoprosencephaly	OMIM:184705
Pyknoachondrogenesis	Abdominal distention, Muscular edema	ORPHA:3003
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:227645
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Incontinentia Pigmenti	Short stature, Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage	OMIM:308300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Waldenström Macroglobulinemia	Lymphadenopathy, Splenomegaly	ORPHA:33226
Kasabach-Merritt Phenomenon	Abdominal distention, Abdominal pain	ORPHA:2330
Jacobsen Syndrome	Hydrocephalus, Microphthalmia, Holoprosencephaly, Macular hypoplasia	OMIM:147791
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Pulmonary artery aneurysm, Syringomyelia, Lower limb spasticity, Dandy-Walke...	OMIM:616462
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:464738
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia	OMIM:608940
Basal Cell Nevus Syndrome 1	Hydrocephalus, Microphthalmia, Spina bifida	OMIM:109400
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Short stature	OMIM:272950
Poems Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:2905
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Microphthalmia	ORPHA:268249
Cockayne Syndrome B	Postnatal growth retardation, Microphthalmia, Hypertension, Hypoplasia of the iris, Severe short ...	OMIM:133540
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Pulmonary arterial hypertension, Portal hype...	OMIM:620005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Polyhydramnios, Pulmonary arterial hypertension, Short stature, Intrauterine grow...	OMIM:620186
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Protuberant abdomen	ORPHA:50945
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Microphthalmia, Severe short stature	ORPHA:85167
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly	ORPHA:1572
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:602782
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen, Camptodactyly, Knee flexion contracture	OMIM:618019
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Rhizomelia, Encephalocele	OMIM:616300
Eisenmenger Syndrome	Abdominal distention, Aortopulmonary window, Renal insufficiency	ORPHA:97214
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure...	ORPHA:227
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Hydrops fetalis, Polyhydr...	ORPHA:3472
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Aortic regurgitation, Optic nerve hypoplasia, Spina bifida, Short stature	ORPHA:508498
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen	OMIM:619418
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:614083
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Renal agenesis, Pulmonary hypoplasia, Urethral atresia, Peripher...	OMIM:273395
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Splenomegaly	ORPHA:98849
Cockayne Syndrome Type 3	Microphthalmia, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Mild postnatal grow...	ORPHA:90324
2Q31.1 Microdeletion Syndrome	Short stature, Microphthalmia	ORPHA:251014
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda...	OMIM:249000
H Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:168569
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ...	OMIM:601678
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Tangier Disease	Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy	ORPHA:31150
Q Fever	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia, Proportionate short stature	ORPHA:2108
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia	ORPHA:33364
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation	ORPHA:3103
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, ...	OMIM:100300
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Gastrointestinal infarctions, Pulmonary artery aneurysm, Hypospadias, Respiratory i...	ORPHA:286
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Multiple Myeloma	Lymphadenopathy, Splenomegaly	ORPHA:29073
Fontaine Progeroid Syndrome	Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Short stature, Umbilica...	OMIM:612289
Congenital Syphilis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Alobar holoprosencephaly, Oc...	OMIM:610829
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:608670
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ...	OMIM:241200
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Shor...	ORPHA:138
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine...	ORPHA:93325
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy	OMIM:615688
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37042
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia, Telangiectasia	OMIM:268400
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1587
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Umbilical ...	OMIM:300166
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616975
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Periodic hypokalemic paresis, Tremor, Vomiting	ORPHA:91347
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Microphthalmia	OMIM:227646
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Mend Syndrome	Aortic valve stenosis, Microphthalmia, Short stature	ORPHA:401973
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Urethral atresia	ORPHA:1896
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Autoimmune Lymphoproliferative Syndrome	Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Holoprosencephaly	ORPHA:3186
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Hypertension, Retinal hemorrhage, ...	ORPHA:191
Chédiak-Higashi Syndrome	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:167
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Microphthalmia With Limb Anomalies	Hydrocephalus, Microphthalmia, True anophthalmia	ORPHA:1106
Coccidioidomycosis	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen	ORPHA:228123
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Alobar holoprosencephaly	OMIM:236100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:32960
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s...	ORPHA:468631
Igg4-Related Thyroid Disease	Vocal cord paralysis, Dysphagia	ORPHA:64744
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Witteveen-Kolk Syndrome	Microphthalmia, Polyhydramnios, Growth delay, Short stature, Intracranial hemorrhage, Intrauterin...	OMIM:613406
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um...	OMIM:305600
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Holoprosencephaly, Anophthalmia	ORPHA:141099
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplas...	ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Familial Mediterranean Fever	Lymphadenopathy, Splenomegaly	ORPHA:342
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil...	OMIM:214800
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Codas Syndrome	Hypoplasia of the corpus callosum, Vocal cord paresis	OMIM:600373
Cardiac Valvular Dysplasia 1	Hydroureter, Hydronephrosis, Pulmonary artery atresia, Urethral diverticulum	OMIM:212093
Fraser Syndrome	Abnormal lung lobation, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Death in infa...	ORPHA:2052
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Neuroocular Syndrome	Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Splenomegaly	ORPHA:667
Monosomy 9P	Microphthalmia	ORPHA:261112
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Pallister-Hall Syndrome	Microphthalmia, Short stature, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios	ORPHA:672
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele	OMIM:219000
Brucellosis	Lymphadenopathy, Splenomegaly, Hypersplenism	ORPHA:1304
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Microphthalmia, Retinal hemorrhage, Hypoplasia of th...	OMIM:175780
Immunodeficiency 82 With Systemic Inflammation	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:619381
Feingold Syndrome 1	Microcephaly, Vocal cord paralysis	OMIM:164280
Behçet Disease	Lymphadenopathy, Splenomegaly	ORPHA:117
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal phosphate wasting	ORPHA:289176
Sarcoidosis	Abnormal lymph node morphology, Lymphadenopathy	ORPHA:797
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Aortic regurgitation	OMIM:612474
Branchiooculofacial Syndrome	Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt...	OMIM:113620
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Lowe Oculocerebrorenal Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:309000
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardat...	OMIM:268300
Crimean-Congo Hemorrhagic Fever	Lymphadenopathy, Splenomegaly	ORPHA:99827
Blau Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:90340
Marburg Hemorrhagic Fever	Lymphadenopathy	ORPHA:99826
Norrie Disease	Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus	ORPHA:99889
Primrose Syndrome	Distal amyotrophy, Hip contracture, Ataxia, Flexion contracture, Skeletal muscle atrophy, Knee fl...	OMIM:259050
Leptospirosis	Lymphadenopathy	ORPHA:509
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Short stature	ORPHA:857
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Anophthalmia, Hydrocephalus, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Short stature	ORPHA:261552
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Growth delay	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Microphthalmia, Aortic valve stenosis, Short stature	ORPHA:261537
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800

Histopathology

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

There is no histopathology data for Nmnat2

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nmnat2.

No publications found that use IMPC mice or data for Nmnat2.

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MGI Allele	Allele Type	Produced
Nmnat2^{tm296362(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nmnat2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nmnat2 MGI:2444155

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Nmnat2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data