banner
Genes Phenotypes Help, News, Blog

Gene: Gnpat MGI:1343460

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glyceronephosphate O-acyltransferase
Synonyms:
D1Ertd819e

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Gnpat mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve... OMIM:222765

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pon... OMIM:615181
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Cataract, Short stature, Macular atrophy, Microcephaly, Hy... OMIM:616171
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Coloboma, Hypoplasia of the brainstem, Megalocor... ORPHA:370959
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... OMIM:614833
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, ... OMIM:236670
Warburg Micro Syndrome 1
Delayed CNS myelination, Cerebellar vermis hypoplasia, Short stature, External genital hypoplasia... OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Re... OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas... ORPHA:496790
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Camptodactyly of finger, Microcepha... ORPHA:1466
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Microcephaly, Micrognathia, Optic atrophy, Cerebellar hypoplasi... ORPHA:163937
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Aganglionic megacolon,... ORPHA:171680
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Microphthalm... OMIM:218670
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Bresek Syndrome
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorch... ORPHA:85284
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Retinal detachment, Agenesis of cerebellar vermis, Corneal opacity, Catarac... OMIM:613153
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the p... OMIM:620157
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Mic... OMIM:609053
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism... ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Type II lissencephaly, Cerebellar dysp... OMIM:615041
Warburg Micro Syndrome 4
Cerebellar atrophy, Decreased motor nerve conduction velocity, Small scrotum, Short stature, Cryp... OMIM:615663
Lissencephaly 8
Occipital encephalocele, Cataract, Microcephaly, Optic atrophy, Cerebral hypomyelination, Retroce... OMIM:617255
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, S... OMIM:610125
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Frontotemporal Dementia
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... OMIM:600274
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Cataract, Short stature, Freckling, Microcephaly, Decreased nerve conduction ... OMIM:610651
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract, Infertility OMIM:300719
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... ORPHA:1528
N-Acetylaspartate Deficiency
Short attention span, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Small for gestational age, Hypospadias, Corneal opacity, Optic nerve hypopla... OMIM:301056
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Optic nerve hypoplasia, Arachnodactyly, Microcephaly, Hypoplasia of the pons, Cryp... OMIM:612513
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Cerebral atrophy, EEG abnorma... ORPHA:457205
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Central heterochromia, Small for gestational age, Hypogonadotropic hypogonad... OMIM:275400
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Abnormal cerebellum mor... ORPHA:280234
Squalene Synthase Deficiency
Hypospadias, Optic nerve hypoplasia, Failure to thrive in infancy, Micrognathia, Bilateral crypto... OMIM:618156
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcephaly, Progressive microcephaly,... OMIM:300953
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Hypergonadotropic hypo... OMIM:604168
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypoplasia of the pons, Simplified gyral pattern, Microphallus, Pachygyria... ORPHA:468631
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... ORPHA:250972
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Cataract, Demyelinating peripheral neuropathy, Decreased nerve conduction vel... OMIM:612674
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Microcornea, Abnormal optic nerve mor... ORPHA:899
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Cerebral dysmyelination, Microcephaly, Periventricul... ORPHA:1083
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Peripheral axonal neuropathy, Delayed CNS myelination, Short stature, Microce... OMIM:619090
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Short stature, Optic nerve hypoplasia, Microcephaly,... OMIM:300749
Optic Atrophy 11
Delayed CNS myelination, Short stature, Optic nerve hypoplasia, Microcephaly, Optic atrophy, EEG ... OMIM:617302
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Decreased ne... ORPHA:2928
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve... OMIM:222765
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Secondary mic... OMIM:607432
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... OMIM:206900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Optic n... ORPHA:3157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g... ORPHA:300570
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Micrognathia, Long fingers,... ORPHA:363686
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Toe syndactyly, Camptodactyly of finger, Long fingers, Bulle... ORPHA:1617
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Microcephaly, Microcornea, Growth delay, Hypogonadism, Microphthalmia ORPHA:2528
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Micrognathia, Microcornea, Clitoral hypoplasia... ORPHA:2510
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Microcephaly, Pachygyria, Cryptorchidism, Micrognathia, Simplified gyral pattern, Abnormality of ... OMIM:604317
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telan... OMIM:620155
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Preaxial polydactyly, O... ORPHA:141333
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Unilateral cryptorchidism, Optic nerve hypoplasia, Large f... ORPHA:137634
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... OMIM:182230
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Tapered finger, Delaye... ORPHA:401777
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Cataract, Growth delay, Leukodystrophy OMIM:614932
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia,... OMIM:601794
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcephaly, Proxima... ORPHA:139471
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Cardiofaciocutaneous Syndrome 4
Cataract, Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation... OMIM:615280
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal myelination, Agenesis of corpus c... ORPHA:401830
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Periv... OMIM:603671
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Stromme Syndrome
Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Micro... OMIM:243605
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... OMIM:615771
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus c... ORPHA:228384
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:607706
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions OMIM:617820
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Short stature, Camptodactyly of finger, Micrognathia, Mi... ORPHA:48431
Pierpont Syndrome
Short palm, Short stature, Microcephaly, Cryptorchidism, Short toe, Microcornea, Abnormal periphe... OMIM:602342
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Ambiguous genitalia, Micromelia, Microcephaly, Cryptorchidism, Abn... ORPHA:2772
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, ... OMIM:615574
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormality, Ret... OMIM:610951
Pierpont Syndrome
Small for gestational age, Abnormal cortical gyration, Cryptorchidism, Short toe, Microcornea, Ch... ORPHA:487825
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Growth delay, Coloboma, Microphthalmia, Failure to... OMIM:274270
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Abnormal cerebellum morphol... ORPHA:565624
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Micrognathia, Cerebellar hypoplasia, Talipes equinovarus, Micro... OMIM:616570
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Microcephaly, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Hypoplasia of... OMIM:615411
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, M... ORPHA:363741
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Vaginal neoplasm, Abnormality of the female genitalia, Keratitis, Weight loss, Anterior... ORPHA:1018
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Short stature, Developmental cataract ORPHA:1368
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Verheij Syndrome
Small for gestational age, Optic nerve hypoplasia, Short stature, Microcephaly, Cerebral atrophy,... OMIM:615583
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Aplasia/Hypoplasia of ... ORPHA:65
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Maternal Hyperthermia-Induced Birth Defects
Hypoplasia of penis, Short stature, Microcephaly, Abnormality of neuronal migration, EEG abnormal... ORPHA:2216
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Microcephaly, Gray mat... OMIM:611603
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Age... OMIM:300067
Gombo Syndrome
Microcephaly, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachyda... OMIM:233270
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Corpus callosum atrophy, Ret... OMIM:619389
Cockayne Syndrome
Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Cerebral dys... ORPHA:191
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Cataract, Hydrocephalus, Subcortical band ... OMIM:615191
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG ... OMIM:245200
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Choroidal neovascularization, Decreased nerve conduction velocity, ... OMIM:608895
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Delayed myelination, Growth delay, Pigmentary retinopathy, Leukodystrophy, Pachygyria OMIM:617613
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Hypsarrhythmia, Lateral ventricle dilatation, Hypoplasia of... OMIM:618890
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
2P15P16.1 Microdeletion Syndrome
Sandal gap, Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Microcephaly, Tapered fin... ORPHA:261349
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614306
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus OMIM:301050
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Small for gestational age, Rocker bottom ... OMIM:214150
Cednik Syndrome
Short stature, Microcephaly, Optic atrophy, Hypogonadism, Pachygyria, Polymicrogyria, Abnormality... ORPHA:66631
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Micrognathia, Missing ribs, Cryptorchidism, Hydrocephalus, Optic... ORPHA:3301
Leiomyomatosis, Diffuse, With Alport Syndrome
Anterior lenticonus, Failure to thrive, Lenticonus, Cataract OMIM:308940
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Micro... OMIM:613730
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, C... ORPHA:3363
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Alport Syndrome
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Re... ORPHA:63
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Microcephaly, Retinal ... OMIM:618889
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... OMIM:218000
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Neonatal insulin-dependent diabetes mellitus, Cerebellar hypoplasia, Apla... ORPHA:65288
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Hydrocephalus, Devel... OMIM:613155
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo... OMIM:204100
Charcot-Marie-Tooth Disease Type 4A
Limited interphalangeal movement, Decreased nerve conduction velocity, Decreased number of large ... ORPHA:99948
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Developmental cataract, Intrauterine gr... ORPHA:319514
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Cryptorchidism, Short thumb, Chorioretinal coloboma, Intrauterine gro... ORPHA:2489
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot... ORPHA:352682
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation, Ha... OMIM:610100
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per... ORPHA:101082
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Periventricular heterotopia, Micrognathia, C... ORPHA:261250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Streak ovary, Abnormality of female external genitali... ORPHA:168563
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Hypospadias, Optic nerve hypoplasia, Short stature, Micrognathia, A... ORPHA:93932
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Acromicric Dysplasia
Short metacarpal, Severe short stature, Decreased nerve conduction velocity, Small hand, Abnormal... ORPHA:969
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia ORPHA:2246
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cataract, Small for gestational age, Micrognathia, S... OMIM:615095
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly OMIM:613094
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Microcephaly, Postnatal growth retardation, Cryptorchi... OMIM:615419
Cockayne Syndrome B
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypop... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Type II lissencephaly, Microcephaly, Abnormally large globe, Hydrocephalus, Coloboma, H... OMIM:615249
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Decreased nerve conduction velocity, Cerebral cortical atrophy ORPHA:1188
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, EEG with focal spikes, EEG with focal... ORPHA:101029
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... ORPHA:99939
D-Glyceric Aciduria
Delayed CNS myelination, Optic nerve hypoplasia, Microcephaly, Hypsarrhythmia, Growth delay, Micr... OMIM:220120
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Hypergonadotropic hypogonadism, Short stature, Rod-cone dystrophy, Insulin-re... OMIM:268020
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Warburg Micro Syndrome 2
Small scrotum, Cataract, Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Postnatal gr... OMIM:614225
Cockayne Syndrome A
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Abnormality of ski... OMIM:216400
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve... OMIM:607250
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, Severe short s... OMIM:619851
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Congenital hypoth... OMIM:606519
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Hammertoe, Decreased number of large peripheral myelin... OMIM:615376
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Short stature, Overlapping toe, Microcephaly, Camptodact... OMIM:619420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Short stature, Clinodactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterio... OMIM:610023
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:214400
White-Sutton Syndrome
Failure to thrive, Delayed CNS myelination, Short stature, Optic nerve hypoplasia, Microcephaly, ... OMIM:616364
Adams-Oliver Syndrome 2
Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Cerebral atrophy, Developmental catarac... OMIM:614219
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Large for gestational age ORPHA:2432
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Micrognathia, Postnatal growth retardation, Cryptorchi... ORPHA:494344
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... ORPHA:90103
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Hyperextensibility of the finger joints, 11 pairs of ribs, Microcephaly, Decr... OMIM:618356
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Congenital Varicella Syndrome
Cataract, Micromelia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growt... ORPHA:291
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Microcephaly, Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb for... OMIM:615284
Warburg Micro Syndrome 3
Small scrotum, Cataract, Microcephaly, Postnatal growth retardation, Micrognathia, Hypoplastic la... OMIM:614222
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Cataract, Retinal atrophy, Retinal dystrophy, Mi... ORPHA:90324
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of peripheral myelin... OMIM:618184
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, F... OMIM:609033
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... OMIM:605627
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic nerve hypoplasia ORPHA:572013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age, Microcephaly, Growth delay, Microphthalmia OMIM:278780
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Short st... ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Cerebellar hypoplasia, Microphthalmia, Type II lissencephaly OMIM:614830
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo... OMIM:607597
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormal cerebellum morphology, Abnormality of peripheral nerve ... ORPHA:101001
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Pigmentary retinopathy,... ORPHA:370968
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcephaly, Hydrocephalus, Optic atro... OMIM:619321
Nabais Sa-De Vries Syndrome, Type 1
Clinodactyly of the 5th finger, Simplified gyral pattern, Optic nerve hypoplasia, Primary microce... OMIM:618828
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... OMIM:608323
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Coloboma, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finge... ORPHA:508498
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Cataract, Microcephaly, Dysmyelinating leuko... ORPHA:135
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... ORPHA:1020
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Abnormal repetitive mannerisms OMIM:617393
Isolated Lissencephaly Type 1 Without Known Genetic Defects
EEG with changes in voltage, Hypsarrhythmia, Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Split hand, Axonal loss, Clu... ORPHA:101097
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Corneal dystrophy, Corneal opacity, Optic nerve hypopl... ORPHA:495875
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Cataract, Short stature, Hypop... ORPHA:1493
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acute dem... ORPHA:101081
Baraitser-Winter Syndrome 1
Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Pachygyria, Duplicatio... OMIM:243310
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... ORPHA:444002
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... OMIM:615990
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Postnatal growth retardation,... OMIM:619135
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hypothyroidism, Lens coloboma, Agen... ORPHA:42775
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn... OMIM:615665
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Hammertoe OMIM:620111
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, A... ORPHA:45358
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the c... OMIM:164180
Foxg1 Syndrome
Cognitive impairment, Bruxism, Impaired social interactions, Abnormal repetitive mannerisms, Paro... ORPHA:561854
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Abnormal cerebellum morphology, Optic atrophy, Cerebral atrophy, Macular degeneration, ... OMIM:204200
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 17
Male infertility OMIM:617214
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract OMIM:620312
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Prominent fingertip pads, Cl... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Delayed CNS myelination, Cataract, Microcephaly, Cerebral atrophy, Growth delay, Dandy-Walker mal... OMIM:616154
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity OMIM:615924
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Abnormal cerebellum morphology, Developmental cataract... OMIM:610532
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe OMIM:613287
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:605285
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Delayed CNS myelination, Contracture of the proximal interp... OMIM:617201
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Small for gestational age, Rocker bottom foot, Microcephaly, Micrognathi... OMIM:610756
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Ulnar claw, Chronic axonal neuropathy OMIM:606595
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner... OMIM:604320
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Micrognathia, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... OMIM:618381
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe OMIM:600361
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stature, Epiphyseal ... ORPHA:79345
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Cerebral at... OMIM:256600
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Hammertoe OMIM:616687
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Ambigu... ORPHA:93267
Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Abnormal finger morphology, Megalocornea, Iris coloboma, Agen... ORPHA:536471
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Abnormality of neuro... ORPHA:44
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Mmep Syndrome
Microcephaly, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia ORPHA:3434
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:101077
Alport Syndrome 3A, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma... OMIM:612379
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Postaxial hand poly... ORPHA:3378
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity, Abnormality of neuronal migration, Microcephaly ORPHA:1980
4H Leukodystrophy
Cerebellar atrophy, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:289494
Wilson-Turner Syndrome
Cataract, Hypogonadotropic hypogonadism, Short stature, Micrognathia, Tapered finger, Cryptorchid... ORPHA:3459
Sialidosis Type 1
Cataract, Corneal opacity, Short stature, Decreased nerve conduction velocity, EEG abnormality, C... ORPHA:812
Juvenile Huntington Disease
Irritability, Hyperactivity, Dementia, Depression ORPHA:248111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Cerebellar gliosis, Partial agenesis of the corpus callo... ORPHA:79243
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Short stature, Isosexual precocious puberty, Metaphyseal wid... ORPHA:2788
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Microphthalmia, Syndromic 13
Short stature, Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Holoprosencephaly 9
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... OMIM:610829
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Filippi Syndrome
Cerebellar atrophy, Microcephaly, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyl... OMIM:272440
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Cataract, Short stature, Simplified gyral pattern, Hypoplasia of the brainste... OMIM:224050
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... OMIM:615986
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... ORPHA:457284
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Septo-optic dysplasia, Short stature, Adrenal h... ORPHA:95496
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... ORPHA:401820
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corpus callosum atrophy, Cerebral atr... ORPHA:320391
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Microcephaly, Demyelinating motor neuropathy, Retinal pigment epithelial mottling, Moderately sho... ORPHA:506353
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Tatton-Brown-Rahman Syndrome
Chiari type I malformation, Optic nerve hypoplasia OMIM:615879
Seckel Syndrome 2
Few cafe-au-lait spots, Small for gestational age, Hypospadias, Short stature, Microcephaly, Micr... OMIM:606744
19P13.13 Microdeletion Syndrome
Sandal gap, Optic nerve hypoplasia, Corpus callosum atrophy, Long fingers, Optic atrophy, Chiari ... ORPHA:357001
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... ORPHA:98784
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Baller-Gerold Syndrome
Micrognathia, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, Hypoplasia ... OMIM:218600
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Kapur-Toriello Syndrome
Cataract, Overlapping fingers, Camptodactyly of finger, Cryptorchidism, Polymicrogyria, Short thu... OMIM:244300
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, A... OMIM:204000
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:159550
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Pancreatic And Cerebellar Agenesis
Failure to thrive, Agenesis of cerebellar vermis, Diabetes mellitus, Optic nerve hypoplasia, Micr... OMIM:609069
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short stature, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Failure t... OMIM:617864
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Cataract, Microcephaly, Micrognathia, Delayed myelination, Optic atrophy, Cer... ORPHA:544469
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath... ORPHA:447788
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... OMIM:300957
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, An... OMIM:194072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Cataract, Agyria, Hypoplasia of the pyramidal tract, Hydroceph... OMIM:253800
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination OMIM:249900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin... OMIM:152950
Rhombencephalosynapsis
Microretrognathia, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cereb... ORPHA:59315
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Short stature, Supernumerary ... ORPHA:1173
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Microcephaly, Apla... ORPHA:290
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Hammertoe, Compound muscle action potential amplitude facilitation, Decreased compound muscle act... OMIM:616040
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Failure to thrive, Premature ovarian insufficiency, Cataract ORPHA:2278
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly... ORPHA:110
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Nodular Neuronal Heterotopia
EEG abnormality, Abnormality of neuronal migration ORPHA:2149
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... ORPHA:909
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy, Truncal obesity, Micropenis ORPHA:75858
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... ORPHA:95494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Microretrognathia, Abnormal retinal morphology, 4-layered lissencephaly, Rock... ORPHA:89844
Dpm1-Cdg
Cerebellar atrophy, Sandal gap, External genital hypoplasia, Micrognathia, Delayed myelination, O... ORPHA:79322
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination ORPHA:401840
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Small scrotum, Cataract, Short stature, Rhizomelia, Microcephaly, Micrognathi... OMIM:617164
Marinesco-Sjögren Syndrome
Cataract, Severe short stature, External genital hypoplasia, Microcephaly, Coxa valga, Avascular ... ORPHA:559
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Cataract, Broad hallux, Microcephaly, Periventricular heterotopia, Retin... OMIM:614105
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Microcephaly, Micrognath... OMIM:618186
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Swan neck-like deformities of the fingers, Decreased n... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, H... ORPHA:77298
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Emotio... ORPHA:79264
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Short stature, Hypermelanotic macule, Microcephaly, Tapered finger, Di... ORPHA:317
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Talipes equinovaru... ORPHA:3115
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Abnormal retinal morphology, Short stature, Microcephaly, Micrognat... OMIM:610758
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Cataract, Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Motor axonal neuropathy OMIM:620068
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Abnormal cerebellum morphology, Coloboma, Secondary microcephaly, Peter... OMIM:618652
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal ... OMIM:618733
Wagr Syndrome
Cataract, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Obesity, Aplasia/Hypoplasia ... ORPHA:893
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Cataract, Short stature, Macular ... OMIM:619260
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ulnar dev... ORPHA:456312
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Short stature, Cryptorchidism, Obesity, Hand po... ORPHA:2377
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Leukodystrophy, CNS demyelination, Rod-cone dystrophy OMIM:264470
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypergonadotropic hypogo... ORPHA:298
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Cataract, Decreased number of large peripheral myelina... OMIM:162400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Frontonasal Dysplasia 1
Cataract, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basal encephalocele, ... OMIM:136760
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Hsd10 Disease
Short attention span, Abnormal social behavior, Dysphagia ORPHA:391417
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal ... ORPHA:1777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Ruvalcaba Syndrome
Short palm, Short metacarpal, Retinal dystrophy, Short stature, Micromelia, Microcephaly, Cryptor... OMIM:180870
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal pigment epithelial mottling, Chorio... ORPHA:448237
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Buphthalmos, Hypoplasia... OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Pigmentary retinopathy,... OMIM:613156
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Hammertoe ORPHA:435387
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, De... OMIM:302800
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Triokinase And Fmn Cyclase Deficiency Syndrome
Delayed CNS myelination, Cataract, Failure to thrive in infancy, Cerebellar hypoplasia, Microphth... OMIM:618805
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter... ORPHA:300573
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Short phalanx of finger, Short metacarpal, Retinal atrop... ORPHA:85167
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Delayed CNS myelination, Cataract, Microcephaly, Optic atrophy, Talipes equin... OMIM:617481
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Short stature, Sandal gap, Microcephaly, Delayed myelination, Hypoplasia of th... OMIM:300887
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Split hand, Hammertoe, Demyelinating peripheral neurop... ORPHA:99950
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Sandal gap, Short stature, Microcephaly, Clinodactyly of the... ORPHA:2515
Kapur-Toriello Syndrome
Hypoplasia of penis, Pachygyria, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic labia ma... ORPHA:2328
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Microphthalmia, Syndromic 8
Microcephaly, Cryptorchidism, Microcornea, Split foot, Microphthalmia OMIM:601349
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract, Microcephaly, Micrognathia, Aplasia/Hypoplasia of th... ORPHA:3173
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Toe syndactyly, 2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, EEG with m... OMIM:616809
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Micrognathia, Abnormal pupil morphology, Lentiglobu... ORPHA:534
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal nerv... ORPHA:98755
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity, Talipes equinova... OMIM:614399
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Microcephaly, Hydrocephalus, M... ORPHA:858
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at... OMIM:608804
Hyperreflexia
Abnormality of retinal pigmentation, Microcephaly OMIM:145290
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Chorioretinal lacunae, Partial agenesi... OMIM:304050
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Abnormal nerve conduction velocity OMIM:619862
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Microcephaly, ... ORPHA:816
Srd5A3-Cdg
Cerebellar atrophy, Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimula... ORPHA:324737
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Facial palsy, Micrognathia, Cryptorchidism, Decreased compound muscle action potenti... OMIM:301830
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microcephaly, Micrognathia, Gray matter heterotopia, Astigmatism, Camptodactyly, Microp... OMIM:619694
Hypomelanosis Of Ito
Syndactyly, Cataract, Microcephaly, Macular hypopigmented whorls, streaks, and patches, Cerebral ... OMIM:300337
Chromosome Xp11.3 Deletion Syndrome
Cataract, Short stature, Microcephaly, Cryptorchidism, Posterior subcapsular cataract, Optic atro... OMIM:300578
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short stature, Optic nerve hypoplasia, Cryptorchidism, Chiari type I malformation, Cafe-au-lait s... OMIM:617506
Cat-Eye Syndrome
Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Distal Hereditary Motor Neuropathy Type 5
Hammertoe, Abnormal motor nerve conduction velocity ORPHA:139536
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Trisomy 18
Microcornea, Holoprosencephaly, Iris coloboma, Microretrognathia, Short stature, Spina bifida, Cr... ORPHA:3380
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Cataract, Retinal dystrophy, EEG with focal spike waves, Buphthalmo... ORPHA:370997
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, External genital hypoplasia, Anopht... ORPHA:141099
Symmetrical Thalamic Calcifications
EEG abnormality, Failure to thrive, Abnormality of neuronal migration, Microcephaly ORPHA:1314
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Satoyoshi Syndrome
Short stature, Microcephaly, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes ins... ORPHA:3130
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Chorioretinal atrophy, Failure to thrive, Cerebral cortical ... OMIM:238970
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Spastic Paraplegia 54, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:615033
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Axonal loss, Decreased amplitude of sensory action potentials ORPHA:85446
Cohen Syndrome
Micrognathia, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Iris coloboma, Fi... ORPHA:193
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Brachydactyly OMIM:614819
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Hypo... OMIM:619185
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... OMIM:615960
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Edinburgh Malformation Syndrome
Micrognathia, Brushfield spots, Long fingers, Hydrocephalus, Abnormality of neuronal migration, U... ORPHA:1895
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive mannerisms, D... ORPHA:927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Developmental catara... OMIM:613154
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Olivopontocerebellar atrophy, Pigmentary retinopathy OMIM:164500
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Microphthalmia With Limb Anomalies
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... OMIM:206920
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Pachygyria, Agenesis of corpus callosum, Hypospadias, Brushfield spots, Cryptorchid... OMIM:614866
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Clinodactyly, Split hand,... OMIM:157900
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Abnormal mitochondria... ORPHA:543470
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Diffuse cerebral atrophy, Decreased compound muscle ac... OMIM:619279
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Micrognathia, Brushfield spots, Cryptorchidism, Metatarsus adductus, Optic nerve dyspla... OMIM:214110
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism,... ORPHA:85173
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:272
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Bicornuate uterus, Microphthalmia OMIM:615524
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy, Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Arachnodactyly, Microcephaly, Incre... ORPHA:243
Sandestig-Stefanova Syndrome
Delayed CNS myelination, Small for gestational age, Rocker bottom foot, Developmental cataract, E... OMIM:618804
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Postaxial polydactyly, Cryptorchidism... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Postaxial polydactyly, Cryptorchidism... ORPHA:352665
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Type II diabetes mellitus ORPHA:2579
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cln3 Disease
Cerebellar atrophy, Cataract, Bull's eye maculopathy, Optic atrophy, Increased circulating androg... ORPHA:228346
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Autosomal Recessive Spastic Paraplegia Type 15
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal cerebellum morphology, Pigmentary retin... ORPHA:100996
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Cataract, Peters anomaly, Microcephaly, Partial absence of c... OMIM:613150
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Cataract, Short stature, Toe syndactyly, Microcephaly, Cryptorchidism, Hydr... ORPHA:250989
Trichothiodystrophy 3, Photosensitive
Delayed CNS myelination, Cataract, Short stature, Bilateral cryptorchidism, Developmental catarac... OMIM:616395
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Abnorm... ORPHA:77299
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Microcornea, ... ORPHA:2839
Baraitser-Winter Syndrome 2
Short stature, Coloboma, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agene... OMIM:614583
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyper... OMIM:619580
Developmental And Epileptic Encephalopathy 1
Delayed CNS myelination, Microcephaly, EEG with burst suppression, Hypsarrhythmia, Growth delay, ... OMIM:308350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Cryptorchidism, CNS hypomyeli... OMIM:614230
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Microcephaly, Facial diplegia, Gray matter heterotopia, Pachygyria, Cerebella... ORPHA:370980
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femoral metaphys... ORPHA:168549
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, Microcephaly, Growth del... OMIM:619026
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Cerebral dysmyelination, Micrognathia, Decreased nerve conduction velocity, C... OMIM:261515
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Delayed CNS myelination, Cataract, Short stature, Microcephaly, Periventricul... OMIM:619833
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Short stature, Micrognathia, Microcornea, Coloboma, Iris transillumination defect, Decr... OMIM:617306
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Microcephaly, Postnatal growth retardation, Cryptorchidism, Microgna... OMIM:248700
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Leukodys... OMIM:614877
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Microphthalmia, Lenz Type
Finger syndactyly, Cataract, Hypospadias, Short stature, Camptodactyly of finger, Microcephaly, C... ORPHA:568
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Toe syndactyly, Microcephaly, Cryptorchidism, Cone-shaped epiphyses of the distal phala... OMIM:618958
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level... ORPHA:2410
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Short statu... ORPHA:585
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Short stature, Arachnodactyly, Absent phalangea... OMIM:108145
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Cyclopia, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydr... OMIM:264480
Wolfram Syndrome 1
Cataract, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Limited mobility ... OMIM:222300
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Short stature, Diabetes mellitus, Microcephaly, Cryptorchidism, Clinodactyly, Hypothyro... OMIM:616541
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, 2-3 toe cutaneous syndactyly,... OMIM:620029
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Anophthalmia, Hypermelanotic macule, Postnatal gro... ORPHA:90321
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Short stature, Microcephaly, Optic atrophy, Abnormality of n... ORPHA:2518
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Restlessness, Hyperactivity, Aggressive behavior, Agitation OMIM:300558
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Temtamy Syndrome
Ectopia lentis, Lens luxation, Micrognathia, Short 2nd toe, Talipes equinovarus, Chorioretinal co... OMIM:218340
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Dysplastic corpus callosum, ... OMIM:618820
Laurence-Moon Syndrome
Small scrotum, Short stature, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Polydactyly... OMIM:245800
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Micromelia, Microcephaly, M... OMIM:600092
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... ORPHA:1263
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Pachygyria,... OMIM:253280
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... OMIM:617695
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Sandal gap, Abnormal retinal vascul... ORPHA:2715
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla... ORPHA:649
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Small scrotum, Cryptorchidism, Hypogonadism, Microp... ORPHA:228390
Autosomal Recessive Spastic Paraplegia Type 25
Developmental glaucoma, Abnormality of peripheral nerve conduction, Developmental cataract ORPHA:101005
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Delayed CNS myelination, Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of t... OMIM:619517
Achondrogenesis Type 2
Retinal detachment, Cataract, Short stature, Micromelia, Delayed proximal femoral epiphyseal ossi... ORPHA:93296
Jeune Syndrome
Abnormality of retinal pigmentation, Toe syndactyly, Short stature, Micromelia, Postaxial hand po... ORPHA:474
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Short stature, Microcephaly, Growth delay, Limb undergrowth, Abnormal metap... ORPHA:177
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Microcephaly, Periventricular heterotopia, Tapered finger, Partial agenesis o... OMIM:616212
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Clinodactyly of the 5t... ORPHA:1390
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Hypospadias, Short stature, Adrenal hypoplasia, Micrognat... ORPHA:7
Galloway-Mowat Syndrome 1
Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, Pachygyria, Hypopigmentation o... OMIM:251300
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Short stature, Cachexia, Microcephaly ORPHA:1933
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Martsolf Syndrome 1
Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Short phal... OMIM:212720
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Alkuraya-Kucinskas Syndrome
Small scrotum, Cataract, Overlapping toe, Micrognathia, Hydrocephalus, Clinodactyly, Adducted thu... OMIM:617822
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus, Delayed myelination, Cerebral atrophy, Second... ORPHA:397951
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Rocker bottom foot, Small hand, Dec... ORPHA:902
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral mye... ORPHA:99949
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal... OMIM:209900
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Laron Syndrome
Limb undergrowth, Decreased serum insulin-like growth factor 1, Delayed menarche, Severe short st... OMIM:262500
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... ORPHA:1381
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Precocious puberty, Missin... ORPHA:50
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Mismatch Repair Cancer Syndrome 4
Multiple cafe-au-lait spots, Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... ORPHA:8
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Decr... OMIM:216550
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Decreased nerve... OMIM:201300
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... OMIM:615297
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Dilated fourth ventricle, Optic disc pallor, Optic atr... OMIM:164400
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Finger clinodactyly, Micropenis, Absent distal interphalangeal crea... ORPHA:1692
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Short stature, Micromelia, Microcephaly, Micrognathia, H... OMIM:241800
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Axonal degenera... ORPHA:88628
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Overlapping fingers, Overlapping toe, Cryptorchidism, Cerebral atro... OMIM:618494
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Short stature, Microcephaly, Tapered fing... ORPHA:1867
Xq28 (MECP2) duplication
Depression, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Ce... OMIM:613001
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal... ORPHA:91495
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Microcephaly, Abnormal limb bone morphology, Abnormality of neuronal migration, Li... ORPHA:2204
Congenital Insensitivity To Pain With Severe Intellectual Disability
Delayed CNS myelination, Small for gestational age, Rocker bottom foot, Micrognathia, Keratitis, ... ORPHA:453510
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss, Split hand, Hammertoe OMIM:118300
Jacobsen Syndrome
Brachydactyly, Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Missing ri... OMIM:147791
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Motor deterioration, Dementia, Low frustration tolerance, Men... ORPHA:168491
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Ab... ORPHA:251014
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Facial palsy, Abnormality of neuronal migration, Hypoplasia of the brainstem, Cere... OMIM:608840
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Morning glory anomaly... OMIM:614424
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spi... ORPHA:508488
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Small scrotum, Anterior pituitary hypoplasi... ORPHA:264200
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Microcephal... ORPHA:2714
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Mental deterioration, Low frustration tolerance, Skin-picking... ORPHA:163681
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly... ORPHA:2189
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality... ORPHA:163966
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c... ORPHA:959
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Decreased fertility, Microc... OMIM:234050
Neu-Laxova Syndrome
Cataract, External genital hypoplasia, Spina bifida, Microcephaly, Abnormal cortical gyration, Mi... ORPHA:2671
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Micrognath... OMIM:301043
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Short stature ORPHA:93476
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Short stature, Optic disc coloboma, Short clavicles, Opacification of the c... OMIM:169550
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Microcorne... ORPHA:2505
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Short stature, Microcephaly, Polymicrogyria, Unilateral microphthalmos, Cafe-au-lait... OMIM:618874
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Microcephaly, Hydrocephalus, Hypop... OMIM:309801
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Short stature, Pseudoepiphyses o... ORPHA:192
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal migration, Holop... ORPHA:945
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Linear Verrucous Nevus Syndrome
Short metacarpal, Cataract, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormal c... ORPHA:2611
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Cataract, Micrognathia, Coxa valga, Hemiatrophy of upper limb, Abnormal femor... ORPHA:163649
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Short stature, Abnormality of radial epiphyses, Coxa v... ORPHA:166002
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... ORPHA:206436
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, H... OMIM:614436
Meckel Syndrome
Anophthalmia, Sclerocornea, Micrognathia, Microcornea, Dandy-Walker malformation, Encephalocele, ... ORPHA:564
Craniosynostosis 4
Chiari type I malformation, Ectopic posterior pituitary, Optic nerve hypoplasia OMIM:600775
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Micromelia, Microcephaly, Micrognathia, Cryptorchidism, Hydr... ORPHA:1865
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Cataract, Short stature, Microcephaly, Optic atrophy, Hypogonadism, Rod-cone ... ORPHA:254913
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Retinal pigmen... OMIM:617102
Nance-Horan Syndrome
Retinal detachment, Short metacarpal, Cataract, Microcornea, Microphthalmia ORPHA:627
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Retinal dystrophy, Hydrocephalus, Optic disc colobo... OMIM:608091
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Cryptorch... ORPHA:93329
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala... OMIM:300863
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... ORPHA:2232
Mulibrey Nanism
Short stature, Corneal dystrophy, Absent frontal sinuses, Hypoplastic frontal sinuses, Growth del... OMIM:253250
Mend Syndrome
Cataract, Short stature, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, Overlap... ORPHA:401973
Ramon Syndrome
Abnormality of retinal pigmentation, Diabetes mellitus, Failure to thrive, Abnormal anterior cham... ORPHA:3019
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy, Microcephaly OMIM:616606
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal CNS... ORPHA:206443
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate sho... ORPHA:85194
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of peripheral somatosensory evoked potentials, Abnormality of ret... ORPHA:466768
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th... ORPHA:3472
Zellweger Syndrome
Posterior embryotoxon, Cataract, Hypospadias, Corneal opacity, Abnormal chorioretinal morphology,... ORPHA:912
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac... OMIM:615877
Metatropic Dysplasia
Cataract, Severe short stature, Camptodactyly of finger, Micromelia, Hydrocephalus, Clinodactyly ... ORPHA:2635
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Small for gestational age, Hypospadias, Fractured radius, Microcephaly, Micrognathia... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Periventricular Nodular Heterotopia 1
Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar hypoplasia, Hy... OMIM:300049
Triploidy
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Micrognathia, Cryptorchidism, Hydr... ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, 11 pairs of ribs, Agenesis of cerebellar ve... OMIM:615287
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract, Short 5th metacarpal, Brachydactyly ORPHA:1264
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Micrognathia, Distally placed thumb, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:619148
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Frontofacionasal Dysplasia
Encephalocele, Cataract, Short stature, Brushfield spots, Microcornea, Hypoplasia of olfactory tr... ORPHA:1791
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Hypospad... OMIM:214100
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Limb undergrowth, Talipes equinovarus OMIM:614209
Bardet-Biedl Syndrome 3
External genital hypoplasia, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dys... OMIM:600151
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo... OMIM:615994
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Abnormal... ORPHA:2556
Yuan-Harel-Lupski Syndrome
Sandal gap, Decreased nerve conduction velocity, Clinodactyly of the 5th finger, Failure to thriv... OMIM:616652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Clinodactyly of the 2nd finger, Short distal phalanx of the thumb, Clinod... ORPHA:221139
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Split hand, Decreased amplitude of sensory action pote... OMIM:616688
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age, Retin... OMIM:615368
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Cataract, Severe short stature, Micromelia, Mi... OMIM:224410
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Short stature, Microcephaly, Tapered finger, Crypto... ORPHA:127
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Intrauterine growth reta... ORPHA:1914
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contractur... ORPHA:2712
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Spinocerebellar Ataxia 10
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:603516
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Short ... ORPHA:500159
Joubert Syndrome 30
Cerebellar atrophy, Retinal dystrophy, Postaxial hand polydactyly, Gray matter heterotopia, Super... OMIM:617622
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Hydrocepha... ORPHA:2318
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Short stature, Cerebral atrophy, T... OMIM:616192
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Occipital encephalocele, Myelomeningocele, Meningocele, Partial agene... ORPHA:101030
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cataract, Short stature, Overlapping toe, Astigmatism, Retinal coloboma, Micro... OMIM:618571
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Cataract, Cryptorchidism, Cerebellar hypoplasia, Intrauterine growth retardat... OMIM:620327
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Split hand OMIM:270685
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Abnormal external genitalia, Microcephaly ORPHA:3469
Pseudoachondroplasia
Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Hypoplasia of the odon... ORPHA:750
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, External genital hypoplasia, Metatarsus adductus, Short ... ORPHA:3041
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Clubbing of fingers, Microphthalmia, Micropenis... ORPHA:335
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Hyperthyroidism, Short stature, Micrognathia, Primary amenorrhea, Growth delay... ORPHA:502423
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... OMIM:615219
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Polymicrogyria OMIM:602501
Gracile Bone Dysplasia
Short stature, Hydrocephalus, Flared metaphysis, Aniridia, Microphthalmia, Micropenis, Failure to... OMIM:602361
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... ORPHA:284160
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Microcephaly, Abnormal thumb morpholo... ORPHA:1597
Narp Syndrome
Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl... ORPHA:644
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalang... ORPHA:2741
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Failure to thrive in infancy, Sandal gap,... ORPHA:477817
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Microcephaly, Postaxial hand polyd... ORPHA:2491
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Optic nerve hypoplasia, Proportionate short sta... ORPHA:500150
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Vagin... OMIM:619318
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Endocrine-Cerebroosteodysplasia
Small scrotum, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydactyly, Tibial bowing,... OMIM:612651
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion, Impaired social interactions, Attention deficit hyperactivity di... ORPHA:1942
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Micromelia, Micrognathia, Proximal placement o... ORPHA:628
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Retinal dystrophy, Pigmentary retinopathy, ... OMIM:608629
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... OMIM:613885
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Abnormality of skin pigmentation, Abnormality of the ute... ORPHA:84
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Clinodactyly o... OMIM:260660
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Optic atrophy, EEG abnormality, Holoprosencephaly, Aplasia/... ORPHA:588
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, M... OMIM:221900
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5... ORPHA:3103
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Growth delay, Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Brachydactyly, Micrognathia ORPHA:1277
Papillorenal Syndrome
Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, Macular hyperp... OMIM:120330
Desmosterolosis
Severe short stature, Abnormal cortical gyration, Micromelia, Microcephaly, Pachygyria, Micrognat... ORPHA:35107
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... OMIM:601707
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Abnormal ... ORPHA:85179
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... OMIM:605231
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli... ORPHA:2632
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Abnormal motor nerve conduction velocity ORPHA:100998
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... ORPHA:43
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Small hand, Growth delay, Short foot, Cerebellar hypoplasia, Short pa... ORPHA:238750
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Micromelia, Microcephaly, Male pseudohermaphroditism, Hyp... ORPHA:1422
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Short metacarpal, Cataract, Sandal gap, Micrognathia, Disproportionate short ... ORPHA:1427
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Eem Syndrome
Abnormality of retinal pigmentation, Finger syndactyly, Ectrodactyly, Macular dystrophy, Retinopathy ORPHA:1897
Hartsfield Syndrome
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... ORPHA:2117
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Hydranencephaly
Optic nerve hypoplasia, Postnatal growth retardation, Chorioretinal atrophy, Primary microcephaly... ORPHA:2177
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchid... ORPHA:3412
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Schwartz-Jampel Syndrome, Type 1
Bowing of the long bones, Cataract, Short stature, Micromelia, Micrognathia, Bowing of the legs, ... OMIM:255800
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Spina bifida, Microcephaly, Micrognathi... ORPHA:99776
Microphthalmia, Syndromic 6
Small scrotum, Anophthalmia, Sclerocornea, Micrognathia, Adrenal hypoplasia, Microcornea, Colobom... OMIM:607932
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, 2-3 to... OMIM:620025
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Small for gestational age, Short stature, M... OMIM:620024
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... ORPHA:950
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Hydrocephalus, Pigmentary retinopathy, Short 2nd toe, Axenfeld ano... OMIM:612582
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Micromelia, EEG abnormality, Abnormal circulating calcium-p... ORPHA:50810
C Syndrome
Short metacarpal, Toe syndactyly, Short stature, Micromelia, Microcephaly, Micrognathia, Cryptorc... OMIM:211750
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ... OMIM:617781
Chromosome 14Q11-Q22 Deletion Syndrome
Delayed CNS myelination, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate ... OMIM:613457
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... OMIM:611134
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Hammertoe, Microphthalmia, Retin... ORPHA:773
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Decreased fertility, Astigmatism, Aplasia/Hypoplas... ORPHA:886
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Contracture of the proximal interphalang... OMIM:300166
16P13.11 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Microcephaly, Cryptorchidism, Abnormality of neuronal mig... ORPHA:261236
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Multiple cafe-au-lait spots, Microphthalmia, Intrauter... OMIM:609054
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Short stature, Arachnodactyly, Microcephaly,... ORPHA:2719
Chromosome 15Q11.2 Deletion Syndrome
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive behaviors... OMIM:615656
Fanconi Anemia, Complementation Group S
Short stature, Proximal placement of thumb, Microcephaly, Ovarian neoplasm, Ovarian carcinoma, Mi... OMIM:617883
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Simplified gyral patter... OMIM:618273
Chediak-Higashi Syndrome
Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,... OMIM:214500
Gm1 Gangliosidosis
Corneal opacity, Short stature, Camptodactyly of finger, Abnormal retinal vascular morphology, Op... ORPHA:354
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Panhypopituitarism, Holoprosencephaly, Chorioretinal coloboma,... ORPHA:2162
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium... OMIM:619339
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglycer... ORPHA:167
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Depression ORPHA:457240
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ... OMIM:210710
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Microcephaly, Bilateral microphthalmos, Coloboma, Severe postnatal gro... ORPHA:2399
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... ORPHA:93323
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Alstrom Syndrome
Cone/cone-rod dystrophy, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response... OMIM:203800
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Stippled calcification... OMIM:302960
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Impulsivity, Choking episodes, Me... ORPHA:35069
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic me... OMIM:607323
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Split hand, Anisocoria, Hammertoe... ORPHA:90658
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration, Microcephaly OMIM:236795
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Pterygium, Agenesis of corpus callosum, Dandy... OMIM:256520
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Sh... OMIM:614078
Galactokinase Deficiency
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Catar... ORPHA:79237
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Cataract, Hydrocephalus, Split hand, Absent toe,... ORPHA:974
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Inappropriate la... ORPHA:98794
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Mic... ORPHA:1908
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of... ORPHA:475
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Cataract, Hypospadias, Toe syndactyly, Cachexia, Supernumerary ... ORPHA:217346
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone di... ORPHA:93325
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Sandal gap, Supernumerary nipple, Microcephaly, Cryptorchidism, 3-4 finger cutaneo... OMIM:612530
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Lateral ventricle dilatation, Joint ... OMIM:618914
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Microcephaly-Micromelia Syndrome
Micromelia, Microcephaly, Aqueductal stenosis, Micrognathia, Short tibia, Humeroradial synostosis... OMIM:251230
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Juvenile Paget Disease
Abnormality of retinal pigmentation, Bowing of the long bones, Short stature, Optic atrophy, Mela... ORPHA:2801
Focal Dermal Hypoplasia
Linear hyperpigmentation, Anophthalmia, Osteopathia striata, Short metatarsal, Clitoral hypoplasi... OMIM:305600
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... OMIM:123450
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Flexion contracture of finger, Hypospadias, Small for gest... ORPHA:464311
Autosomal Recessive Primary Microcephaly
Short stature, Microcephaly, Pachygyria, Growth delay, Gray matter heterotopia, Hypoplasia of the... ORPHA:2512
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Micromelia, Microcephaly, Proximal placement of thumb, Cryptorch... ORPHA:3121
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Severe short stature, Bowing of the long bones, ... ORPHA:1240
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Micro... OMIM:227650
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Short stature, Disproportionate short-limb short stature, Bowing of the legs ORPHA:156728
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Delayed CNS myelination, Cerebellar vermis hypoplasia, Hypospadias, Short stature, Mi... OMIM:616975
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short stature, Cryptorchidism, Bilateral microphthalmos, Multifocal epileptiform disc... ORPHA:369891
Heart And Brain Malformation Syndrome
Delayed CNS myelination, Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cer... OMIM:616920
Acrofrontofacionasal Dysostosis
Bifid scrotum, Brachydactyly, Hypospadias, Short stature, Micromelia, Camptodactyly of finger, Br... ORPHA:1784
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph... ORPHA:1187
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cataract, Decreased cir... OMIM:240300
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Short 3rd metacarpal, Limb undergrowth, Short tibia, Short 4th metacarpal, Short 2nd ... OMIM:118651
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Microcephaly, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with multifocal... ORPHA:442835
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Triphalang... ORPHA:857
Rothmund-Thomson Syndrome, Type 2
Cataract, Small for gestational age, Short stature, Micrognathia, Cryptorchidism, Short thumb, Sm... OMIM:268400
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity, Metaphyseal widening, Short ribs, Limb und... OMIM:618961
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:10
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Abnormal circulating calcium-phosphate regulating hormone co... ORPHA:2196
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Growth delay, Melanocytic nevus, EEG abnormality, Aden... ORPHA:2612
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cataract, Hypospadias, Small for gestational age, Short stature, Hypodysplasia of ... OMIM:257300
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, ... OMIM:609945
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... OMIM:607778
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Micrognathia, Bil... ORPHA:2754
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Micromelia, Micrognathia, Proximal placem... OMIM:270400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Microcephaly, Micrognathia, ... ORPHA:2166
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Abnormal myelination, Small for gestational age, Short stature, EEG wit... ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Delayed CNS myelination, Cerebellar vermis hypoplasia, Small scrotum, Opt... OMIM:620330
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Short stature, Arachnodactyly, Microcephaly, Pachygyria, Micrognathia, Simpli... OMIM:617729
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Sandal gap, Cachexia, Micrognathia, Tapered finger, Microphthalmia, Intrau... ORPHA:1438
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity OMIM:608747
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of th... ORPHA:255138
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Short stature OMIM:252011
Bohring-Opitz Syndrome
Micrognathia, Hypoplasia of the brainstem, Abnormal optic nerve morphology, Agenesis of corpus ca... OMIM:605039
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, EEG abnormality, Retinopathy ORPHA:578
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309256
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Fryns Syndrome
Hypospadias, Corneal opacity, Aganglionic megacolon, Micrognathia, Cryptorchidism, Bicornuate ute... ORPHA:2059
Frontorhiny
Encephalocele, Cataract, Camptodactyly of finger, Hypoplastic frontal sinuses, Aplasia/Hypoplasia... ORPHA:391474
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Leigh Syndrome
Pigmentary retinopathy, CNS demyelination, Failure to thrive, Optic atrophy OMIM:256000
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Corneal opacity, S... ORPHA:580
Vici Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Cataract, Cerebellar vermis hypoplasia, M... OMIM:242840
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Neoplasm of the gallbladder, ... ORPHA:309271
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Absent thumb,... OMIM:603467
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so... OMIM:300912
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia,... OMIM:618727
Stevenson-Carey Syndrome
Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia OMIM:611961
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309263
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Brachydactyly, Short stature, Microcephaly, Coxa vara, Aplas... ORPHA:1824
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, Cholelithiasis ORPHA:79095
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno... OMIM:112910
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Short stature, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger synda... OMIM:257850
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Supernumerary nipple, Micrognathia, Cryptorchidism, Retinoblastoma, Growth delay... OMIM:613884
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Microcornea, Hypoplasi... OMIM:616449
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner... OMIM:613454
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Harrod Syndrome
Cataract, Hypospadias, Arachnodactyly, Microcephaly, Cryptorchidism, Hypopigmented skin patches, ... ORPHA:2115
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hammertoe, Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral... OMIM:618279
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Miller-Dieker Lissencephaly Syndrome
Cataract, Microcephaly, Pachygyria, Cryptorchidism, Micrognathia, Gray matter heterotopia, Lissen... OMIM:247200
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Irritabili... ORPHA:247585
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ... ORPHA:87
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... OMIM:601356
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive OMIM:618234
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous... OMIM:249000
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Short ribs, Disproportionate short-limb short stature, L... ORPHA:1803
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Mitochondrial swelling ORPHA:397744
Charge Syndrome
Bifid scrotum, Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, C... ORPHA:138
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Mic... OMIM:147250
Acrocephalopolydactyly
Limb undergrowth, Brachydactyly ORPHA:221054
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Micromelia, Hydrocephalus, Abnormality of neuronal migration, Holop... ORPHA:93274
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Short stature, Micromelia, Sandal gap, Obesity, Genu valgum, EEG abnormality ORPHA:1035
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Pterygium, Micropenis, Short phalanx of finger, Syndactyl... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Bruxism, Depression, Hostility, Dysphagia, Abnormal repetitive ma... OMIM:300260
3Q29 Microduplication Syndrome
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Microcephaly, Camptodactyly of toe, Obesity, ... ORPHA:251038
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Camptodactyly of finger ORPHA:2926
Trichothiodystrophy 1, Photosensitive
Cataract, Small for gestational age, Short stature, Freckling, Microcephaly, Microcornea, Keratoc... OMIM:601675
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Cataract, Corneal opacity, Vaginal neoplasm, Short stature, Microcephaly, Mi... ORPHA:1052
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Absent th... OMIM:227646
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Encephalocele, Short metacar... OMIM:108720
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Short middle phalanx of finger, Talipes equi... OMIM:256050
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Absent th... OMIM:600901
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Hurler Syndrome
Corneal opacity, Short stature, Camptodactyly of finger, Hydrocephalus, Growth delay, Abnormality... ORPHA:93473
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Ectopia lentis, Lens l... OMIM:224400
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Hypospadias, Overlapping toe, Microcephaly, Broad distal ... ORPHA:464738
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Abnormal myelination, Small for g... ORPHA:404454
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Talipes equinovarus, Hypoplasia of the corpus callosum, Decrease... ORPHA:320375
Dubowitz Syndrome
Syndactyly, Hypospadias, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidis... OMIM:223370
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... OMIM:617604
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Histiocytoid Cardiomyopathy
Corneal opacity, Hydrocephalus, Optic atrophy, Polycystic ovaries, Microphthalmia, Cerebellar mal... ORPHA:137675
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Brachydactyly, Corneal opacity, Micrognathia, Elevated circulating... OMIM:601812
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Hallermann-Streiff Syndrome
Cataract, Small for gestational age, Spina bifida, Microcephaly, Proportionate short stature, Cry... OMIM:234100
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Severe short stature, Small for gestational age, Short stature, ... OMIM:127000
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Short stature, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmen... ORPHA:1806
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Flared metaphysis, Short ribs, Cerebellar hypoplasi... OMIM:187601
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges... ORPHA:2547
Skin Creases, Congenital Symmetric Circumferential, 1
Microcephaly, Micrognathia, Long fingers, Microcornea, Hypoplastic nipples, Hypoplasia of the cor... OMIM:156610
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Hypoplasia of mandible relative to maxilla, Cryptorchidism... ORPHA:33364
Ruijs-Aalfs Syndrome
Cataract, Short stature, Micrognathia, Posterior subcapsular cataract, Premature graying of hair,... OMIM:616200
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... ORPHA:79432
Sponastrime Dysplasia
Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses of the phalanges of the han... ORPHA:93357
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Ulnar deviation of the hand, Sandal gap, Micrognathia, Partial agen... OMIM:619775
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Polydactyly, Rod-cone dys... OMIM:613464
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... OMIM:606353
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Microretrognathia, EEG with burst suppression, Hypoplastic labia minora, Cere... OMIM:619124
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms OMIM:613443
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Hypospadias, An... OMIM:619841
Incontinentia Pigmenti
Retinal detachment, Finger syndactyly, Cataract, Corneal opacity, Abnormal chorioretinal morpholo... ORPHA:464
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Microcephaly, Abnormal carpal morphology, Obesity, Primary amenorrhea, Bilateral b... ORPHA:319675
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi... OMIM:610217
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... ORPHA:1842
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Bi... OMIM:603194
Weill-Marchesani Syndrome 2
Iridodonesis, Short metacarpal, Cataract, Short stature, Proportionate short stature, Lens luxati... OMIM:608328
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Metaphyseal dysplasia, Bowing of the long bones, Aganglionic... ORPHA:175
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, Microcephaly, Micrognathia, C... OMIM:618460
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypopla... ORPHA:2250
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, EEG abnormality ORPHA:141
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm... ORPHA:429
Alg9-Cdg
Cerebellar atrophy, Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Micrognathia, Del... ORPHA:79328
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis... OMIM:615948
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Short stature, Microcephaly, Leukocoria, Microphthalmia OMIM:257910
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Optic disc coloboma, Postax... ORPHA:1454
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Abnormal cortical gyration, Aplastic clavicle, A... ORPHA:2538
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Sclerocornea, Micrognathia, Proximal placement of thumb, Holoprosencephaly, ... ORPHA:818
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Micrognathia, Absent radiu... ORPHA:1352
Mend Syndrome
Microretrognathia, Failure to thrive, Cataract, Short stature, Broad hallux, Overlapping toe, Mic... OMIM:300960
Fanconi Anemia, Complementation Group L
Delayed CNS myelination, Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Hydroceph... OMIM:614083
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Brachydactyly, Short stature, Microcephaly, Coxa valga, Hypo... ORPHA:2163
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Lethal Recessive Chondrodysplasia
Limb undergrowth, Flared elbow metaphyses, Micromelia, Micrognathia ORPHA:1423
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia, Abn... ORPHA:2631
Monosomy 9Q22.3
Cataract, Ovarian fibroma, Large for gestational age, Hydrocephalus, Chiari malformation, Polydac... ORPHA:77301
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Micromelia, Co... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Short metatarsal, Abnormal carpal morphology, Coxa vara, Upper limb... ORPHA:93351
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency, Rod... OMIM:614863
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ... OMIM:164900
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Neurofibromatosis Type 1
Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofibroma, Genu varum, ... ORPHA:636
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Cowden Syndrome 1
Cataract, Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Thyroiditis,... OMIM:158350
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619877
Hallermann-Streiff Syndrome
Proportionate short stature, Microcephaly, Micrognathia, Cryptorchidism, Small hand, Developmenta... ORPHA:2108
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Slc39A8-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Short stature, Hypsarrhythmia, Cutaneous syndac... ORPHA:468699
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... OMIM:300352
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Conjunctival hyperemia, Clinodactyly of the 5th finger OMIM:167730
Thanatophoric Dysplasia
Micromelia, Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, In... ORPHA:2655
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Cataract, Cerebral atrophy, Xanthelasma, Abnormality of ce... OMIM:213700
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Microcephaly, Aqueductal stenosis, EEG abnormality, Agenesis... ORPHA:1496
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnorm... ORPHA:3186
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Mesomelia-Synostoses Syndrome
Brachydactyly, Short stature, Micromelia, Micrognathia, Abnormality of the humerus, Abnormal tibi... ORPHA:2496
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Subaortic Stenosis-Short Stature Syndrome
Short stature, Micrognathia, Obesity, Type II diabetes mellitus, Microphthalmia, Synostosis of ca... ORPHA:3191
Cerebellofaciodental Syndrome
Cataract, Short stature, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Tapered finger, Sh... OMIM:616202
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Disproportionate short stature,... ORPHA:1801
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Hypospadias, Phimosis, Periventricular heterotopia... ORPHA:75857
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Absent th... OMIM:227645
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus... OMIM:616546
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Microcephaly, Tapered finger, Abnormality of skin pigmentation, Clinodacty... ORPHA:65286
Weill-Marchesani Syndrome 1
Cataract, Short stature, Proportionate short stature, Ectopia lentis, Microspherophakia, Shallow ... OMIM:277600
Monosomy 18P
Short stature, Micrognathia, Microcephaly, Holoprosencephaly, Microphthalmia, Hypothyroidism, Bra... ORPHA:1598
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... OMIM:184705
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short stature, Brachydactyly, Micro... ORPHA:1587
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Pelizaeus-Merzbacher Disease, Connatal Form
Short stature, Macrogyria, Cerebellar hypoplasia, Abnormal myelination, Cerebral hypomyelination,... ORPHA:280210
Fanconi Anemia, Complementation Group R
Microcephaly, Absent thumb, Hydrocephalus, Chiari type I malformation, Growth delay, Microphthalm... OMIM:617244
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Finger syn... ORPHA:1433
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Pigmentary retinopathy, Intrauter... ORPHA:3208
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Severe short stature, Micromelia, Coxa vara ORPHA:168555
Monosomy 18Q
Short stature, Abnormal retinal morphology, Arachnodactyly, Microcephaly, Bilateral cryptorchidis... ORPHA:1600
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydacty... ORPHA:404440
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Metatarsus adduct... ORPHA:2249
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f... ORPHA:2633
Osteoglophonic Dysplasia
Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Short metacarpal, Hypos... OMIM:166250
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Short stature, Optic atroph... OMIM:268315
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Gray mat... ORPHA:531151
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestational age,... OMIM:229850
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide penis, Chiari ... ORPHA:3455
Retinitis Pigmentosa 74
Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-co... OMIM:616562
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Hyperthyroidism, Corneal opacity, Decreased response to growth hormo... ORPHA:488632
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microcephaly, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Intrau... ORPHA:2728
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Pol... OMIM:109400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Micrognathia, Growth delay, Pigmentary retinopathy, Delayed puberty, Hypopituitaris... OMIM:600462
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Short tibia,... OMIM:616300
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Short stature, Microcornea, Severe postnatal growth retardation, Talipes equinovarus, M... ORPHA:35173
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Melas
Hypoparathyroidism, Peripheral axonal neuropathy, Diabetes mellitus, Hypogonadotropic hypogonadis... ORPHA:550
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, Supernumerary nipple, Micro... OMIM:308300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment, Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges... OMIM:609616
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Atypical Werner Syndrome
Micrognathia, Fasting hyperinsulinemia, Premature graying of hair, Finger clinodactyly, Short pal... ORPHA:79474
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ... ORPHA:79139
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Encephalocele, Finger syndactyly, Hypospadias, Abnormal... ORPHA:2211
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Bilater... OMIM:613451
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Microcephaly ORPHA:2220
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Micromelia, Short thumb, Hyp... ORPHA:3258
Ohdo Syndrome, X-Linked
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Micrognathia, Cryptorchidism, Clinod... OMIM:300895
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Proximal placement of thumb, Microcornea, Clinodactyly of the 5th finge... OMIM:122470
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... ORPHA:261197
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa... ORPHA:5
Koolen-De Vries Syndrome
Cataract, Small for gestational age, Short stature, Fair hair, Microcephaly, Cryptorchidism, Gray... OMIM:610443
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Anisocoria, M... OMIM:613406
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Paranasal sinus hypoplasia, Cryptorchidism,... OMIM:603457
Achondroplasia
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hydrocephalus, Disproportionate... ORPHA:15
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Proteus-Like Syndrome
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil mor... ORPHA:2969
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... ORPHA:763
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Proteus Syndrome
Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormality of skin pi... ORPHA:744
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature, Microcephaly OMIM:619059
Lathosterolosis
Hypoplasia of penis, Cataract, Toe syndactyly, Microcephaly, Micrognathia, Postaxial hand polydac... ORPHA:46059
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Corneal opacity, Delayed peripheral myelination, Microcephaly, Aplasia of the dist... ORPHA:364577
Infantile Systemic Hyalinosis
Short palm, Severe short stature, Camptodactyly of finger, Micromelia, Polycystic ovaries, Growth... ORPHA:2176
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Microcephaly, Micrognathia, Elevated circulating thyroid... OMIM:620185
Wilson Disease
Hypoparathyroidism, Kayser-Fleischer ring, Mixed demyelinating and axonal polyneuropathy, Decreas... OMIM:277900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Perip... OMIM:606002
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r... OMIM:619312
Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity ORPHA:93474
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Failure to thrive, Optic atrophy, Facial palsy OMIM:615085
Leopard Syndrome 1
Hypospadias, Short stature, Missing ribs, Cryptorchidism, Micropenis, Cafe-au-lait spot, Hypoplas... OMIM:151100
Astley-Kendall Dysplasia
Disproportionate short-limb short stature, Micromelia ORPHA:85175
Rodrigues Blindness
Microcornea, Microphthalmia, Short stature, Sclerocornea OMIM:268320
Neurooculorenal Syndrome
Iris atrophy, Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Ectopic posteri... OMIM:620305
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Coloboma, Phocomelia, Syndactyly, Hypoplasia of the ulna, Hypospad... OMIM:268300
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Cone-shaped epi... OMIM:184260
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Micrognathia, Aplasia o... ORPHA:2879
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Encephalocele, Hyposp... ORPHA:90652
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Micro... ORPHA:464306
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... ORPHA:2639
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Diabetes insipidus, Postnatal growth retardation, Optic atrophy, Pigmentary retino... ORPHA:96180
Peters Plus Syndrome
Micromelia, Micrognathia, Microcornea, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina... ORPHA:709
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Micrognathia, Split hand, Intrauterine growth retar... ORPHA:2145
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Spina bifida, Ectopi... ORPHA:2092
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Becker Nevus Syndrome
Hypermelanotic macule, Supernumerary nipple, Micromelia, Hypoplastic labia minora, Abnormal tibia... ORPHA:64755
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Chiari type I malformation... ORPHA:261537
Friedreich Ataxia
Diabetes mellitus, Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitud... OMIM:229300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... ORPHA:2526
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Short stature, Arachnodactyly, Hydrocephalus, White hair, Ocular albinism, Aplasia/Hypo... ORPHA:2720
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Cataract, Short stature, Micromelia, Femoral retroversion ORPHA:79107
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Congeni... ORPHA:435638
Van Maldergem Syndrome 2
Bifid scrotum, Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Periventricular... OMIM:615546
Cerebrofacioarticular Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Hypospadias, Short stature, Microcephaly, Micrognathia,... ORPHA:314679
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Micrognathia, Preaxial hand polydactyly, P... OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Thyroid C cell hyperplasia, Hyperpigmented streaks, Lateral ventricle dilatation, M... OMIM:300952
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Corneal opacity, Microcephaly, Delayed myelination, Small hand, Short fo... OMIM:615273
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ... OMIM:302350
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Chia... OMIM:207950
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... ORPHA:1836
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Syndactyly, Cerebellar vermis hypoplasia, Small for ... OMIM:619869
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Holoprosencephaly 14
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial absence ... OMIM:619895
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Microcephaly, Meningocele, Optic atrophy, Agonadism, ... ORPHA:991
Achondrogenesis Type 1B
Severe short stature, Micromelia, Micrognathia, Disproportionate short stature, Short foot, Talip... ORPHA:93298
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Microcornea, Abnormal... ORPHA:199
Glutamine Deficiency, Congenital
Micromelia, CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia of the corpus callosum,... OMIM:610015
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... OMIM:249700
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Hall-Riggs Syndrome
Short stature, Microcephaly, Limb undergrowth, Abnormal metaphysis morphology, Failure to thrive,... ORPHA:2107
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Cryptorchidism, Abnormal femur morphology, Abnormality of neuronal migration, Abnor... ORPHA:2063
Ollier Disease
Precocious puberty, Abnormal metaphysis morphology, Micromelia ORPHA:296
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Corneal opacity, Short stature, Micromelia, Ulnar bowing, Mesomelic short stature,... ORPHA:1765
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Short ribs, Limb undergrowth, M... OMIM:151210
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Microcephaly, Aqueductal stenosis, Micrognathia, Abnormal... ORPHA:2065
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Weight loss ORPHA:216866
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hypoparathyroi... ORPHA:567
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microretrognathia, Broad hallux, Deviation of the hallux, Microcephaly,... ORPHA:434179
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Treacher-Collins Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Cataract, Micrognathia, Cryptorchidism, Abnorm... ORPHA:861
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Retinal dystrophy, Preaxial hand polydactyly, ... OMIM:263520
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Aniso... ORPHA:79138
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short stature, Micromelia, Postnatal growth retardation, Wide distal f... OMIM:613320
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, Ectopic posterior pituitary, C... ORPHA:98889
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Abnormal pupil morphology, Calcaneovalgus deformity,... ORPHA:261552
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Micrognathia, Camptodactyly of finger, Microcephaly ORPHA:2521
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Posterior subcap... OMIM:271510
Myhre Syndrome
Brachydactyly, Cataract, Small for gestational age, Short stature, Overlapping toe, Microcephaly,... OMIM:139210
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
Mycophenolate Mofetil Embryopathy
Micrognathia, Hydrocephalus, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalmia... ORPHA:268249
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Short stature, Hypermelanotic macule, Microcephaly, Kerati... ORPHA:910
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Short stature, Broad hallux, Micromelia, Sandal gap, Postnatal growth retardation, Op... OMIM:614800
Van Maldergem Syndrome 1
Short fourth metatarsal, Hypospadias, Micrognathia, Clinodactyly, Subcortical band heterotopia, S... OMIM:601390
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Hydrocepha... OMIM:309900
Werner Syndrome
Hypertriglyceridemia, Short stature, Cataract, Diabetes mellitus, Hypogonadism, Retinal degeneration OMIM:277700
Ritscher-Schinzel Syndrome 4
Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior OMIM:619435
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hydrocephalus, Split hand, Femoral bowing, Gra... ORPHA:1860
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, Periventricular heterot... OMIM:618870
Greenberg Dysplasia
Rhizomelia, Micromelia, Micrognathia, Severe short-limb dwarfism, Brachydactyly ORPHA:1426
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Microcephaly, Buphthalmos, Limb undergrowth, Intrauterine growth retardation, Fail... OMIM:618005
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... ORPHA:319182
Achondrogenesis Type 1A
Severe short stature, Micromelia, Micrognathia, Short foot, Short palm ORPHA:93299
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Fail... OMIM:219800
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Lowry-Wood Syndrome
Small for gestational age, Short stature, Microcephaly, Pigmentary retinopathy, Clinodactyly of t... OMIM:226960
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Brachydactyly, Micromelia, Microcephaly, Precocious puberty, Disproportionate short stature, Hypo... ORPHA:2637
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... ORPHA:2634
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Genu varum, Flared metaphysis, Coxa vara, Disproportionate short-limb short stature, ... OMIM:602557
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Diabetes insipidus, Adrenal hypoplasia, Alobar holoprose... OMIM:157170
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Schwartz-Jampel Syndrome
Bowing of the long bones, Cataract, Short stature, Cachexia, Ectopia lentis, Microcephaly, Microm... ORPHA:800
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polyd... OMIM:619879
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Micrognathia, Primary amenorrhea, Growth delay, Pigmentary retino... OMIM:617675
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Hydrocephalus, Short toe, Anencephal... OMIM:269860
Spondyloocular Syndrome
Long toe, Retinal detachment, Cataract, Unilateral cryptorchidism, Short stature, Arachnodactyly,... OMIM:605822
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma ORPHA:122
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Cataract, Microcephaly, Micrognathia, Cryptorchidism, Tapered finger, Small han... OMIM:620005
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Micromelia ORPHA:93283
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Holoprosen... ORPHA:672
Smith-Magenis Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:819
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Irregular menstr... OMIM:616482
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:268310
Gm1-Gangliosidosis, Type Ii
Coxa valga, Optic atrophy, Cerebral atrophy, Hypoplastic vertebral bodies, Limb undergrowth, Fail... OMIM:230600
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Short stature, Microcephaly, Growth delay, Talipes equinovarus, Camptodacty... OMIM:617333
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Short stature, Micromelia, Bowing o... OMIM:614091
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Microcephaly, Severe demyelination of the white matter, Hydrocephalus, Optic at... ORPHA:79282
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Overlapping toe, ... ORPHA:798
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Short stature, Sandal gap, Prominent delt... OMIM:619636
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Tapered fi... OMIM:616734
Momo Syndrome
Short stature, Large for gestational age, Abnormality of the thyroid gland, Bilateral microphthal... ORPHA:2563
Friedreich Ataxia
Decreased motor nerve conduction velocity, Diabetes mellitus, Optic atrophy, Sensory axonal neuro... ORPHA:95
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Odontochondrodysplasia
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Short palm, Abnormal metaphysis ... ORPHA:166272
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, External genital hypoplasia, Large for gestational age, Micr... ORPHA:96334
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Branchiooculofacial Syndrome
Anophthalmia, Proximal placement of thumb, Micrognathia, Premature graying of hair, Clinodactyly ... OMIM:113620
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Ret... OMIM:175780
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Autoamputation of digits OMIM:613640
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of carpal bones, Advanced tars... OMIM:215045
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Schisis Association
Encephalocele, Small for gestational age, Spina bifida, Microcephaly, Micromelia, Anencephaly ORPHA:63862
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Short metacarpal, Short stature, Optic atrophy, Microphthalmia, Broad thumb, Short ... OMIM:201180
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Webbed penis, Micropenis, ... ORPHA:2152
Aceruloplasminemia
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morphology, Macular deg... ORPHA:48818
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Ectopia lentis... ORPHA:394
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso... OMIM:619575
3M Syndrome
Hypoplasia of the ulna, Hypospadias, Short stature, Micromelia, Rocker bottom foot, Decreased fer... ORPHA:2616
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Cataract, Tapered toe, Microcephaly, Tapered finger, Long fingers, Abnormality of neuro... OMIM:608836
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Small scrotum, Micrognathia, Micropenis, Syndactyly, Short stature,... OMIM:612289
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Microcephaly OMIM:619981
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Micromelia, Micrognathia, Cryptorchidism, ... ORPHA:93271
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorchidism, Corneal sca... OMIM:309000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Short ribs, Ambiguous ge... OMIM:617895
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hyperlipidemia, Hydrocephalus, Abnormality of neuronal migration, P... ORPHA:157
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Short stature, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx,... OMIM:616331
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Diabetes mellitus ORPHA:96
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... OMIM:256840
Tetrasomy 18P
Large hands, Abnormality of neuronal migration, Microcephaly ORPHA:3307
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hydrocephalus, Flared metaphysis, Fem... OMIM:187600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Delayed CNS myelination, Corneal opacity, Microcephaly, Micrognathia, Aplasia of the distal phala... OMIM:608670
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Abnormality of retinal pigmentation, Short metacarpal, Cataract, Bowed humerus... OMIM:272460
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Brachydactyly, Short stature, Abnormal cortical gyration, Microcep... OMIM:311200
Achondrogenesis
Severe short stature, Micromelia, Micrognathia ORPHA:932
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Alg11-Cdg
Microcephaly, EEG with burst suppression, Delayed myelination, Cerebral atrophy, Gray matter hete... ORPHA:280071
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Pigmentary retinopathy, Failure to thrive, Mottled pigmentation of phot... OMIM:560000
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial... OMIM:259770
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Legius Syndrome
Inguinal freckling, Cataract, Short stature, Axillary freckling, Neurofibroma, Ovarian neoplasm, ... ORPHA:137605
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Holoprosencephaly 1
Cyclopia, Short stature, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Diabetes ins... OMIM:236100
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Cataract, Remnants of the hyalo... OMIM:619539
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Abnormal temper tantrums, Aggressive b... ORPHA:457279
Opitz-Kaveggia Syndrome
Syndactyly, Hypospadias, Short stature, Broad hallux, Micrognathia, Cryptorchidism, Hydrocephalus... OMIM:305450
Pseudo-Torch Syndrome 2
Microcephaly, Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polym... OMIM:617397
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive... OMIM:606232
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,... ORPHA:217253
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Micrognathia, Broad hallux, Cl... OMIM:620186
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Micrognathia, Hydrocephalu... OMIM:273395
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth, Short stature ORPHA:1861
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Osteogenesis Imperfecta, Type Ii
Limb undergrowth, Small for gestational age, Disproportionate short-limb short stature, Tibial bo... OMIM:166210
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the tibia, Genu var... ORPHA:2753
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Short stature, Decreased response t... ORPHA:1855
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Argininemia
Irritability, Hyperactivity, Anorexia OMIM:207800
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Short ribs, Micromelia OMIM:600972
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Finger syndactyly, Short stature, Cachexia, Abnormality of t... ORPHA:1969
Marfan Syndrome
Retinal detachment, Cataract, Arachnodactyly, Ectopia lentis, Micrognathia, Equinus calcaneus, Me... OMIM:154700
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity OMIM:620047
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Short ribs, Disproportionate short-limb short stature, Metaphysea... OMIM:241500
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypothyroidism, Keratoconjunctivitis sic... ORPHA:14
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, B... OMIM:610828
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:617023
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Renpenning Syndrome 1
Cataract, Hypospadias, Short stature, Phimosis, Microcephaly, Micrognathia, Cerebral atrophy, Col... OMIM:309500
Histidinemia
Hyperactivity ORPHA:2157
Xeroderma Pigmentosum, Complementation Group D
Cataract, Microcephaly, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Co... OMIM:278730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Cryptorchidism, Coloboma, Gray matter heterotopia, Abnormal autonomic nervous syste... ORPHA:453499
Alagille Syndrome 1
Hypoplasia of the ulna, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, ... OMIM:118450
Ramon Syndrome
Optic disc pallor, Short stature, Enlarged labia minora, Pigmentary retinopathy, Axenfeld anomaly... OMIM:266270
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Failure to thrive, Optic atrophy, Pigmentary retinopathy OMIM:617282
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microcephaly, Broad thumb, Microph... ORPHA:1236
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Ellis Van Creveld Syndrome
Hypospadias, Micromelia, Epispadias, Cryptorchidism, Capitate-hamate fusion, Abnormal morphology ... ORPHA:289
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Increased circulating free fatty acid level, Fasting hyperinsulinemi... ORPHA:71212
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Joubert Syndrome 8
Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor, Obesity OMIM:612291
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical hand wr... OMIM:619229
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulea... ORPHA:67036
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness OMIM:301030
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depression, Deme... ORPHA:646
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Hypoplasia of proximal radius, ... ORPHA:85170
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Hydrocephalus, 2-3 toe syndactyly, Chia... OMIM:618162
Fetal Alcohol Syndrome
Short stature, Micrognathia, Microcephaly, Microphthalmia, Intrauterine growth retardation ORPHA:1915
Bloom Syndrome
Male infertility, Hypopigmentation of the skin, Premature ovarian insufficiency, Small for gestat... ORPHA:125
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Hypospadias, Corneal opacity, Abnor... OMIM:219000
Degcags Syndrome
Micrognathia, Abnormality of skin pigmentation, Premature graying of hair, Hypopigmentation of th... OMIM:619488
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Hyperlipidemia, Hydrocephalus, Abnormality of neuronal migration, P... ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Cataract, Hypoplasia of the corpus callosum, Cerebral atrophy OMIM:618797
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Retinal dy... OMIM:243910
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Microcephaly, Micrognathia, Hypoplasia of the odontoid process, Enlarged metaph... ORPHA:508533
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Clubbing, Rod-cone dystrophy, Abnormal sperm... ORPHA:244
Cat Eye Syndrome
Short stature, Micrognathia, Absent radius, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:115470
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Cystocele, ... ORPHA:285
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... OMIM:618019
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Phonic tics, Depression, Dementia, Dysphagia, Mental deterioration, Obsessive-comp... OMIM:234200
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th finger, Prom... OMIM:620098
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Bowing of the legs, Metaphyseal widening, Disproportionate short stature, F... ORPHA:93352
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Coxoauricular Syndrome
Short stature, Abnormal femur morphology, Micromelia ORPHA:1508
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Short stature, Microcephaly, Primary adrenal insufficiency... OMIM:530000
Orofaciodigital Syndrome Type 2
Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Central retinal vessel... ORPHA:2751
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Cataract, Rhizomelia, Bowing of the long bones, Aplastic clavicle, Micrognathia... ORPHA:50945
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Short ... OMIM:261540
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplasm of the gallbladder ORPHA:512
Leukocyte Adhesion Deficiency Type Ii
Small for gestational age, Short stature, Overlapping toe, Microcephaly, Keratitis, Cerebral atro... ORPHA:99843
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Absent frontal sinuses, Absent outer dynein arms, ... OMIM:244400
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Dispropo... OMIM:608728
Robinow Syndrome
Syndactyly, Brachydactyly, Small scrotum, Small for gestational age, External genital hypoplasia,... ORPHA:97360
Pearson Syndrome
Hypoparathyroidism, Cataract, Small for gestational age, Pancreatic fibrosis, Decreased response ... ORPHA:699
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Microcephaly, ... OMIM:235730
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Premature ovarian insufficiency, Short stature, Sandal gap, Microcep... OMIM:251260
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Repe... OMIM:619475
Prolidase Deficiency
Abnormality of retinal pigmentation, Arachnodactyly, Micrognathia, Genu valgum, White forelock ORPHA:742
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Sclerocornea, Micrognathia, Short metatarsal, Absent hallux, Microp... OMIM:216340
Microphthalmia, Syndromic 9
Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Bilateral microp... OMIM:601186
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Hydrocephalus, Delayed myelination, Optic atrophy, Conjuncti... ORPHA:505248
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Op... ORPHA:581
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Dyskeratosis Congenita, X-Linked
Cataract, Hypospadias, Short stature, Phimosis, Microcephaly, Cryptorchidism, Reticulated skin pi... OMIM:305000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Abnormal CNS myelination OMIM:619053
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Hydrocephalus, Ulna... OMIM:617866
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Greenberg Dysplasia
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... OMIM:215140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
Dihydropyrimidine Dehydrogenase Deficiency
Micromelia, Microcephaly, Multifocal epileptiform discharges, Cerebral atrophy, Microcornea, EEG ... ORPHA:1675
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... ORPHA:3404
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Small for gestational... OMIM:616229
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Micrognathia, Postnatal growth retardation, Short toe, Limb undergrowth, Short pha... OMIM:225410
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Micrognathia, Cryptorchidism, Clinodactyly, Clitoral hypoplasia, Mesom... OMIM:616894
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Failure to thrive, Optic atrophy ORPHA:436271
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Pigmentary retinopathy, Failure to thrive in infancy, Equinus calcaneus ORPHA:746
Monosomy 9P
Hypospadias, Proximal placement of thumb, Microcephaly, Micrognathia, Cryptorchidism, Abnormality... ORPHA:261112
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Growth delay, Pigmentary retinopathy, Abnormal cornea morpholo... ORPHA:411629
Oculodentodigital Dysplasia
Cataract, Microcephaly, 4-5 finger syndactyly, Microcornea, Joint contracture of the 5th finger, ... OMIM:164200
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Cryptorc... ORPHA:3144
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Peripheral axonal neuropathy, Cataract, Retinal pigment epithelial mottling, Weight loss, Sensory... OMIM:607459
Mesomelic Dysplasia, Savarirayan Type
Short stature, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Short stature, Diaphyseal thic... ORPHA:217085
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Failure to thrive, Small for gestational age OMIM:609015
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph... OMIM:615873
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Failure to thrive, Optic atrophy OMIM:220110
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Short stature, Diaphyseal thic... ORPHA:217093
Campomelia, Cumming Type
Bowing of the long bones, Micromelia, Pancreatic cysts, Clubbing of toes, Aplasia/Hypoplasia affe... ORPHA:1318
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Posterior embryotoxon, Polymicrogyria, Micrognathia OMIM:614887
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Short stature, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clino... OMIM:618529
Otopalatodigital Syndrome, Type Ii
Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, H... OMIM:304120
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Short tibia, Preaxial po... OMIM:617925
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio... ORPHA:91500
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Impaired ... ORPHA:96121
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:2479
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Severe short stature, Hypospad... ORPHA:3107
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses... ORPHA:306542
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Kleefstra Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior ORPHA:261494
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Hypoplasia of penis, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sand... ORPHA:1507
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Kagami-Ogata Syndrome
Limb undergrowth, Long fingers, Coxa valga, Micrognathia OMIM:608149
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Supernumerary nipple, Microcephaly, Polymicrogyria, Talipes equino... OMIM:100300
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Aggressive behavior ORPHA:314647
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate short stature, Sho... OMIM:602875
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Short stature, Rocker bottom foot, Microcephaly, Metatar... OMIM:272950
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Motor axonal neuropathy, Decreased amplitude of sens... ORPHA:36386
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Segmental peripheral demyelination/remyelination, Optic atrophy, Pigmentary re... ORPHA:255210
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, Broad thumb, Brachydactyly OMIM:612813
Kinsship Syndrome
Short stature, Microcephaly, Micrognathia, Coxa valga, Fibular hypoplasia, Mesomelia, Polydactyly... OMIM:619297
Bainbridge-Ropers Syndrome
Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Hypospadias, Aganglionic megacolon, Microcephaly, Cryptorchidism, Clino... OMIM:309800
Lymphedema-Distichiasis Syndrome
Micrognathia, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulceration OMIM:153400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachydactyly, Cataract, Overlapping toe, Sutural cataract, Broad hallux, Microcephaly, Mesoaxial... OMIM:612474
Fraser Syndrome
Encephalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, ... ORPHA:2052
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Dysostosis, Stanescu Type
Bowing of the long bones, Short stature, Micromelia, Microcephaly, Abnormal metaphysis morphology... ORPHA:1798
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Abnormal distal phalanx morphology of finger, Micromelia, Microcephaly, Mic... ORPHA:2636
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Abnormal diaphysis morp... ORPHA:2021
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Hydrocephalus, Pigmentary retinopathy, Failure to thrive, Cerebral cortical atrophy OMIM:277400
Robinow Syndrome, Autosomal Dominant 1
Broad toe, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cryptorchidism, Clinodactyly, ... OMIM:180700
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Gray matter heterotopia, Postaxial hand polydactyly, Retinopathy OMIM:617563
Frontofacionasal Dysplasia
Cataract, Microcornea, Cranium bifidum occultum, Microphthalmia, Iris coloboma OMIM:229400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Cataract, Developmental... OMIM:606721
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Pineob... ORPHA:790
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia ORPHA:171866
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Micrognathia, Tibia... OMIM:613848
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... OMIM:619512
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
C Syndrome
Toe syndactyly, Failure to thrive in infancy, Short stature, Micromelia, Microcephaly, Micrognath... ORPHA:1308
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Short stature, Decreas... ORPHA:67045
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Obesity, Brachydactyly OMIM:608624
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Small hand, Short foot, Micropenis, Spina bifida occulta, Broad femoral neck, Dista... ORPHA:488434
Osteogenesis Imperfecta
Bowing of the long bones, Small for gestational age, Short stature, Corneal opacity, Rhizomelia, ... ORPHA:666
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Raine Syndrome
Bowing of the long bones, Short stature, Micromelia, Micrognathia, Microcephaly, Hydrocephalus, L... OMIM:259775
Geleophysic Dysplasia 3
Limb undergrowth, Short stature, Short foot, Brachydactyly OMIM:617809
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Micrognathia, Postnat... OMIM:163950
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Periventricular Nodular Heterotopia 9
Microcephaly, Tapered finger, Clinodactyly, Gray matter heterotopia, Clinodactyly of the 5th fing... OMIM:618918
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Radial deviation of the hand, Short metacarpal, Short stature, Proximal placem... OMIM:268305
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Microcephaly, Periventricular heterotopia, Cryptorchidism, ... OMIM:606170
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus, Cutaneous syndactyly OMIM:617666
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Stüve-Wiedemann Syndrome
Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Metaphyseal widenin... ORPHA:3206
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly ORPHA:3015
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:614756
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Postaxial polydactyly OMIM:219730
Nijmegen Breakage Syndrome
Short stature, Cachexia, Microcephaly, Abnormality of neuronal migration, Freckling ORPHA:647
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Growth delay, Aplasia of the sweat glands, Abnormality of peripheral nerve cond... ORPHA:642
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Short stature, Micrognathia, Postaxial hand polydactyly, Bile duct prolif... OMIM:613610
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Micromelia, Bowing of the legs, Micrognathia, Hypoplasia of the odontoid proces... OMIM:271665
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Mismatch Repair Cancer Syndrome 1
Axillary freckling, Agenesis of corpus callosum, Gray matter heterotopia, Plexiform neurofibroma,... OMIM:276300
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Growth delay, Pigmentary retinopathy... OMIM:301068
Hypotonia, Ataxia, And Delayed Development Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Ogden Syndrome
Irritability, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Friedreich Ataxia 2
Diabetic ketoacidosis, Hammertoe, Abnormal medulla oblongata morphology, Abnormality of periphera... OMIM:601992
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Micrognathia OMIM:154500
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Pancreatic fibrosis, Micromelia OMIM:200995
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hydrocephalus, Partial duplication of thumb ... OMIM:164210
Cystic Fibrosis
Male infertility, Clubbing of fingers, Failure to thrive, Steatorrhea OMIM:219700
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Primrose Syndrome
Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity... OMIM:259050
Williams Syndrome
Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav... ORPHA:904
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Microcephaly ORPHA:309854
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Short stature, Micromelia, Bowing of the legs, Femoral retroversion, Coxa vara OMIM:610682
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms OMIM:194190
Pyknoachondrogenesis
Short ribs, Micromelia ORPHA:3003

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 Gnpat

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 Gnpat.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gnpattm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gnpattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter