Gene Summary

chromodomain helicase DNA binding protein 7
Gena 52,  GENA 60,  GENA 47,  Cyn,  A730019I05Rik,  WBE1,  Whi,  Todo,  Obt,  Mt,  Lda,  Flo,  Edy,  Dz,  Cycn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor activation Chd7Whi HET   Early adult 1.91×10-05
decreased circulating aspartate transaminase level Chd7Whi HET Early adult 2.34×10-05
decreased body weight Chd7Whi HET Early adult 9.01×10-06

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

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Human diseases caused by Chd7 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 predicted to be associated to Chd7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes, Facial paral... OMIM:124490
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... OMIM:618709
Multiple Synostoses Syndrome 4
Otosclerosis, Brachydactyly, Tarsal synostosis, Overlapping toe OMIM:617898
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Severe sensorineural hearing impairment, Dys... OMIM:604213
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Radial deviation of finger, Clinodactyly, Ptosis, Sensorineural hearing im... OMIM:608747
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impairment, Long nose, Low hangin... OMIM:184460
Deafness, Conductive, With Malformed External Ear
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormality of the pinna, ... OMIM:221300
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Hearing ... ORPHA:500166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia, Craniosynostosis, Frontal bossing, Palpebral edema, Microretrognathia, Mandi... ORPHA:397612
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
X-Linked Intellectual Disability, Stevenson Type
Genu valgum, Thickened helices, Palpebral edema, Abnormality of the pinna, Abnormal facial shape,... ORPHA:85325
X-Linked Intellectual Disability, Shashi Type
Blepharophimosis, Palpebral edema, Macrotia, Coarse facial features, Prominent supraorbital ridge... ORPHA:85286
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy ORPHA:99966
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Hearing impairment, Short stature, Dentinogenesis imperfecta, Femora... OMIM:166220
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Posteriorly rotated ears, Low-set ears, Hydrocephalus, Dilation of l... OMIM:300864
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Atopic dermatitis, Camptodactyly, Chronic otitis media, Intrauterine growth retard... ORPHA:412035
17Q24.2 Microdeletion Syndrome
Otosclerosis, Upper limb undergrowth, Broad thumb, Midface retrusion, Recurrent otitis media, Fai... ORPHA:529962
17Q23.1Q23.2 Microdeletion Syndrome
Coxa magna, Highly arched eyebrow, Frontal bossing, Abnormality of epiphysis morphology, Chronic ... ORPHA:261279
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Failure to thrive,... OMIM:618276
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Poikiloderma With Neutropenia
Midface retrusion, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Short stature, Re... OMIM:604173
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Highly arched eyebrow, Palpebral edema, Low-set, posteriorly rotated ears, Hypertonia, Growth del... ORPHA:466688
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic tetraplegia, Babi... OMIM:616657
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, S... OMIM:617862
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Abnormality of the pinna, Low-set ears, Dilated fourth ventric... OMIM:617751
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis, Abnormality of the helix, Prominent occiput ORPHA:1259
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Fraxe Intellectual Disability
Clumsiness, Epicanthus, Intrauterine growth retardation, Prominent ear helix, Recurrent hand flap... ORPHA:100973
Masa Syndrome
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Short stature, Microc... OMIM:303350
Phosphoserine Phosphatase Deficiency
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micr... OMIM:614023
Crouzon Disease
Narrow internal auditory canal, Frontal bossing, Conductive hearing impairment, Midface retrusion... ORPHA:207
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Waddling gait, Short l... OMIM:186500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Osteopenia, Severe short stature, Decreased body weight, Posteriorly rotated ears, Low-set ears, ... OMIM:618336
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Blepharophimosis, Palpebral edema, Mandibular prognathia, Growth de... ORPHA:261144
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Hearing impairment, Dentinogenesis imperfecta, Femoral bowing OMIM:166200
20Q11.2 Microduplication Syndrome
Underdeveloped supraorbital ridges, Triangular face, Trigonocephaly, Periorbital edema, Downslant... ORPHA:363659
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Hearing impairment, C... OMIM:608716
16P13.2 Microdeletion Syndrome
Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, G... ORPHA:500055
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral atrophy, Dilation of la... ORPHA:77299
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Tinnitus, Abnormal latera... ORPHA:73256
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Protruding ear, EEG abnormality, Short stature, Microcephaly, Long nose ORPHA:85329
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Ataxia, Low-set ears, Posteriorly rotated ears, Thick eyebrow, Protruding ear, Up... OMIM:616819
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion ORPHA:411777
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebral white matter hypopl... ORPHA:284417
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Bulbous nose, Absent nasal bridge, Short nose, Tics, Chronic otitis medi... ORPHA:261211
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Macrotia, Hypertonia, Abnormality of the pinna, Dilated fourth ventr... ORPHA:3078
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Postnatal growth retardation, Torticollis, Sen... ORPHA:300570
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Hypertonia, Microcephaly, Dilation of lateral ventricles, Spas... OMIM:618890
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Hypertonia, Patent ductus arteriosus, Umbilical herni... OMIM:618164
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Hemiparesis, Abn... OMIM:604317
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Low-set ... OMIM:300884
Ravine Syndrome
Abnormality of the larynx, Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Fa... ORPHA:99852
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Upslanted palpebral fissure, Mandibular prognathia, Narrow face, Long face, Hyperactivity OMIM:301013
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumonia, Conjunctivitis... OMIM:601457
Spastic Paraplegia 51, Autosomal Recessive
Prominent antihelix, Spastic paraplegia, Bulbous nose, Wide nasal bridge, Spastic tetraplegia, Sh... OMIM:613744
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Growth delay, A... ORPHA:1435
17Q21.31 Microduplication Syndrome
Toe syndactyly, Epicanthus, Abnormality of the outer ear, Synophrys, Sandal gap, Clinodactyly of ... ORPHA:217340
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Distal Xq28 Microduplication Syndrome
Absent antihelix, Predominantly lower limb lymphedema, Metatarsus adductus, Clinodactyly, Microti... ORPHA:293939
Otosclerosis 10
Otosclerosis OMIM:615589
Masa Syndrome
Spastic paraplegia, Gait disturbance, Ventriculomegaly, Hemiplegia/hemiparesis, Short stature, Ag... ORPHA:2466
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, Chronic sinusitis OMIM:612692
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Round face, Epiphyseal stippling, Large fontanelles, Palpebral edema, Flat face... OMIM:614866
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Sensorineural hearing impairment, Abnormal retinal vascular morpholo... ORPHA:269
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Ectropion, Large fontanelles, Flat face, Recurrent otitis media, Corneal opacity, Syn... OMIM:602562
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Mental Retardation, Autosomal Dominant 33
Microcephaly, Short stature, Decreased body weight, Hyperactivity OMIM:616311
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Cerebral atrophy, Obesity, Limb hypertonia, Dilation of lateral ventricles, P... OMIM:617296
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Small for gestational age, Abnormality of th... ORPHA:199302
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Large fontanelles, Palpebral edema, Upslanted palpebral fissure, Camptodactyly,... OMIM:214110
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Stereotypy, Failure to thrive, Microcephaly, Spasticity OMIM:617393
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Coffin-Siris Syndrome 9
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Growth delay, Abnormality of... OMIM:615866
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Stereotypy, Macrotia OMIM:615541
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Narrow face, Long face, Small for ... OMIM:609425
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Broad-based gait, Recurrent otitis media, Tracheomalacia, Prominent nasa... ORPHA:513456
Fried Syndrome
Macrotia, Gait disturbance, Spastic diplegia, Hearing impairment, Cerebral calcification, Hydroce... ORPHA:85335
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Macrotia, Dysplastic corpus callosum, Sensorineural hearing impairment, Hyperintensity of cerebra... ORPHA:544488
Pettigrew Syndrome
High-frequency hearing impairment, Gait ataxia, Ventriculomegaly, Abnormality of the basal gangli... OMIM:304340
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Simplified gyral pattern, Hyperactiv... OMIM:613402
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Polymicrogyria, Cortical d... OMIM:615282
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Apraxia, Frontal bossing, Palpebral edema, Camptodactyly, Thickened calvaria, Ataxia, Clinodactyl... ORPHA:397709
Yao Syndrome
Skin rash, Ventricular hypertrophy, Pleuritis, Pericarditis, Oral ulcer, Weight loss, Xerostomia,... OMIM:617321
Ayme-Gripp Syndrome
Pericarditis, Mandibular prognathia, Camptodactyly, Broad eyebrow, Sensorineural hearing impairme... OMIM:601088
Peho Syndrome
Biparietal narrowing, Hypsarrhythmia, Macrotia, Palpebral edema, Midface retrusion, Peripheral ed... ORPHA:2836
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Overfolded helix, Hypoplasia of the corpus callosum, Hypoplastic ... OMIM:618606
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Spastic dip... ORPHA:135
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Posteriorly rotated ears, Small cerebral cortex, Abnormal cortica... ORPHA:2185
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior, Hyperactivity ORPHA:436151
Mucopolysaccharidosis Type 2
Otosclerosis, Hip dysplasia, Temporomandibular joint ankylosis, Conductive hearing impairment, Hi... ORPHA:580
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Transposition of the great arteries, Coarctation of... OMIM:612474
Phelan-Mcdermid Syndrome
Macrotia, Palpebral edema, Lymphedema, 2-3 toe syndactyly, Epicanthus, Long eyelashes, Dental mal... OMIM:606232
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Truncal ataxia, Macrotia, Loss of ability to walk in first decade, Hyperkinetic movements, Decrea... OMIM:300243
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Luscan-Lumish Syndrome
Irregular menstruation, Recurrent otitis media, Slurred speech, Short stature, Macrocephaly, Adva... OMIM:616831
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Hearing impairment... ORPHA:401830
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Short palpe... ORPHA:1200
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Cerebral cortical atrophy, Lower limb spasticity... ORPHA:401820
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Lacrimal duct atresia, Oval face, Absent eyelashes, Conductive hearing impairment, Hypoplasia of ... OMIM:106260
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Intrauterine growth retardation, Ab... ORPHA:488635
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Clubbing of fingers, Maculopapular exanthema, Conju... OMIM:191900
Schilbach-Rott Syndrome
Posteriorly rotated ears, Short stature, Microcephaly, Attention deficit hyperactivity disorder, ... OMIM:164220
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Convex nasal ridge, Apraxia, Broad nasal tip, Gait disturbance, Microcephaly,... OMIM:616541
Lassa Fever
Skin rash, Vertigo, Lethargy, Chemosis, Palpebral edema, Pleural effusion, Conjunctivitis, Hearin... ORPHA:99824
Distal Trisomy 18Q
Cryptorchidism, Carious teeth, Camptodactyly of finger, Short nose, Anteverted nares, Abnormality... ORPHA:1716
Cockayne Syndrome Type 2
Enamel hypoplasia, Developmental cataract, Delayed eruption of primary teeth, Macrotia, Hypoplasi... ORPHA:90322
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Lissencephaly 4
Hypertonia, Growth delay, Short stature, Simplified gyral pattern, Microcephaly, Agenesis of corp... OMIM:614019
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Abnormal cerebral white matter morphology, Cerebral atrophy, Resting tremor, Ataxia,... ORPHA:314404
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Narrow mouth, Increased nuchal translucency, ... OMIM:619110
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Smith-Magenis Syndrome
Impaired pain sensation, Morphological abnormality of the middle ear, Abnormality of the larynx, ... OMIM:182290
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Multifocal hyperintensity of cerebral whit... ORPHA:488627
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Polymicrogyria, Spastic ... OMIM:611603
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Overfolded helix, Absent septum pellucidum, Low-set, posteriorly rotated ears, Ve... ORPHA:397715
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
N-Acetylaspartate Deficiency
Truncal ataxia, Decreased body weight, Unsteady gait, Stereotypy, Short stature, Microcephaly OMIM:614063
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Absent eyelashes, Condu... ORPHA:2316
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Developmental And Epileptic Encephalopathy 49
Macrotia, Ventriculomegaly, Cerebral calcification, Myoclonus, Microcephaly, Hydrocephalus, Dandy... OMIM:617281
Lissencephaly 5
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... OMIM:615191
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Hypertonia, Small for gestation... ORPHA:352490
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Underdeveloped nasal alae, Hypsarrhythmia, ... ORPHA:457351
Simosa Craniofacial Syndrome
Depressed nasal tip, Underdeveloped nasal alae, Abnormality of the pinna, Wide nasal bridge, Post... OMIM:182150
Inflammatory Skin And Bowel Disease, Neonatal, 1
Otitis externa, Pustule, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Episodic ataxia, Difficulty walking, Increased CSF protein, Hydrocephalus, Hearing abnormality ORPHA:251912
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Mandibular prognathia, Long eyelashes, Synophrys, Low-set ears, Posteriorl... OMIM:617773
Dandy-Walker Syndrome
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Ataxia, Short stature, Hypogonadism, Progressive hearing ... OMIM:616113
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Growth delay, Failure to thrive, Hyperactivity, Tetrapleg... OMIM:274270
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Gapo Syndrome
Keratoconus, Delayed eruption of teeth, Frontal bossing, Palpebral edema, Micrognathia, Midface r... ORPHA:2067
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Congenital Disorder Of Glycosylation, Type Ii
Coloboma OMIM:607906
Marfanoid-Progeroid-Lipodystrophy Syndrome
Narrow nasal ridge, Oligohydramnios, Generalized lipodystrophy, High palate, Reduced subcutaneous... OMIM:616914
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Choanal atre... ORPHA:2363
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Macrotia, Hyperactivity, Macrocephaly, Long nose, Spasticity OMIM:300486
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Agenesis of corpus callosum, Lissenceph... OMIM:300067
Developmental And Epileptic Encephalopathy 89
Asymmetry of the ears, Sparse eyebrow, Hypertonia, Tetraparesis, Omphalocele, Downslanted palpebr... OMIM:619124
Microcephaly 17, Primary, Autosomal Recessive
Macrotia, Ventriculomegaly, Failure to thrive, Simplified gyral pattern, Short stature, Microceph... OMIM:617090
Coffin-Siris Syndrome 6
Wormian bones, Frontal bossing, Conductive hearing impairment, Low-set, posteriorly rotated ears,... OMIM:617808
Chromosome 9P Deletion Syndrome
Narrow mouth, Narrow palpebral fissure, Choanal atresia, Omphalocele, High palate, High, narrow p... OMIM:158170
Mohr-Tranebjaerg Syndrome
Dystonia, Sensorineural hearing impairment, Generalized dystonia, Abnormality of somatosensory ev... ORPHA:52368
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Upslanted palpebral fissure, Ataxia, Low-set e... OMIM:619092
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Microcephaly, Hydrocephalus ORPHA:26
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Dystonia, Chronic otitis media, Spastic diplegia, Epicanthus, Synophrys, Long eyelashes, ... ORPHA:480907
Glutaric Acidemia I
Dystonia, Rigidity, Spastic diplegia, Opisthotonus, Failure to thrive, Choreoathetosis, Dilation ... OMIM:231670
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Hemiparesis, Unilateral polymicrogyria, Frontopari... OMIM:610031
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Lower limb... ORPHA:401815
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus, Hypertonia, Spastic tetraplegia, Simplified gyral pattern, Agenesis of c... OMIM:619302
Chorea, Benign Familial
Chorea OMIM:215450
14Q11.2 Microdeletion Syndrome
Long philtrum, Highly arched eyebrow, Toe syndactyly, Narrow mouth, Short nose, Ventricular septa... ORPHA:261120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Peripheral demyelination, Peripheral h... OMIM:609136
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Ventriculomegaly, Cerebral cortical atrophy, Hearing impairment, Myoclonus, Microcephal... OMIM:617669
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia, Spasticity OMIM:203450
Seckel Syndrome 5
Convex nasal ridge, Cryptorchidism, Oligodontia, Blepharophimosis, High palate, Hypodontia, Selec... OMIM:613823
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ventriculomegaly, Weigh... ORPHA:248111
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Low-set ears, Subependymal cysts, Neonatal death, Dilation of ... OMIM:610015
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, C... ORPHA:572798
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:618492
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
Treacher Collins Syndrome 2
Choanal stenosis, Conductive hearing impairment, Choanal atresia, Cleft palate, Downslanted palpe... OMIM:613717
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Pachygyria, Colpocephaly OMIM:614870
Arboleda-Tham Syndrome
Small earlobe, Craniosynostosis, Mandibular prognathia, Lower limb hypertonia, Sparse medial eyeb... OMIM:616268
Hennekam-Beemer Syndrome
Conductive hearing impairment, Pneumonia, Wide nasal bridge, Hearing impairment, Short stature, F... ORPHA:2135
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Failure to thrive, Stereotypical hand wringin... ORPHA:500545
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Bulbous nose, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, At... OMIM:617695
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Oxycephaly, Natal tooth, Short 1st metacarpal, A... OMIM:201050
Immunodeficiency, Common Variable, 3
Conjunctivitis, Recurrent otitis media, Recurrent sinusitis OMIM:613493
Sunct Syndrome
Palpebral edema, Facial edema, Ptosis, Ear pain, Conjunctival hyperemia ORPHA:57145
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Difficulty walking, Hypoplasia of the c... ORPHA:561854
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Epicanthus, External ear malformation, Conjuncti... ORPHA:33110
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Split hand, Xerostomia, Sensorineural hearing i... ORPHA:1896
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Increased CSF lactate, Cerebral a... ORPHA:255182
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, ... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 98
Short nose, Underdeveloped nasal alae, Macrotia, Hypsarrhythmia, Growth delay, Secondary microcep... OMIM:300912
Crouzon Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Conductive hearing impairment, Atresia of the exter... OMIM:123500
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Low-set ears, Cerebra... OMIM:610333
Temple Syndrome
Cryptorchidism, Short philtrum, Overweight, High palate, Recurrent otitis media, Flexion contract... OMIM:616222
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormality of the mouth, Abnormality of the philtrum, Overfolded helix, Choanal ... ORPHA:2759
Harrod Syndrome
Protruding ear, Failure to thrive, Intrauterine growth retardation, Microcephaly, Long nose ORPHA:2115
Apert Syndrome
Broad thumb, Large fontanelles, Mandibular prognathia, Sensorineural hearing impairment, Downslan... ORPHA:87
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Hip dysplasia, Camptodactyly of finger, Temporomandibular joint ankylosis, Conducti... ORPHA:217085
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Epicanthus, Decreased body weight, Low-set ears, Sensorineural hearing imp... OMIM:618342
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Short nose, Macrotia, Ventricular septal defect, Epicanthus, Keratoconjuncti... OMIM:234050
Agel Amyloidosis
Respiratory tract infection, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, La... ORPHA:85448
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Severe periodontitis, Overlapping toe, Palpebral edema, Conductive hearing impairm... ORPHA:99843
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Hip dysplasia, Camptodactyly of finger, Temporomandibular joint ankylosis, Conducti... ORPHA:217093
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Spasticity, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Abnormal periventricular white matter morphology, Difficulty walking, Hypop... ORPHA:280763
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Almond-shaped palpebral fissure, Underdeveloped nasal alae, D... ORPHA:521308
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Poor fine motor coordination, Postnatal growth retardation, T... ORPHA:96148
Catel-Manzke Syndrome
Highly arched eyebrow, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, ... ORPHA:1388
Glass Syndrome
Bulbous nose, Low-set ears, Short stature, Hyperactivity, Microcephaly, Long nose, Prominent nasa... OMIM:612313
Cockayne Syndrome Type 1
Enamel hypoplasia, Mandibular prognathia, Postnatal growth retardation, Abnormality of peripheral... ORPHA:90321
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Tenorio Syndrome
Macroglossia, Clumsiness, Pneumonia, Stomatitis, Raynaud phenomenon, Thick eyebrow, Keratoconjunc... OMIM:616260
Coffin-Siris Syndrome 7
Hyperactivity, Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing ... OMIM:618027
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Abnormal lung morphology, Ectropion, Lymphedema, Atypical scarring of skin, Predominantly lower l... ORPHA:182
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Megalocornea, Flat acetabular roof, Bullet... OMIM:252500
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Abnormal facial shape, Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Infant Botulism
Drooling, Hypotension, Chronic otitis media, Hypertension, Xerostomia, Ptosis, Mydriasis, Keratoc... ORPHA:178478
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Spasticity, Polymicrogyria, Abnormality of the basal ganglia, ... ORPHA:101029
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Tooth agenesis, Inguinal hernia, Cleft palate, Hypogonadotropic hypogonadism, Hi... ORPHA:1135
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Carious teeth, Lacrimal duct stenosis, Microretrognathia, Down-sloping ... OMIM:615560
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Pulmonary fibrosis, Telangiectasia of the skin, Abnormal pulmona... ORPHA:81
Enamel hypoplasia, Cryptorchidism, Carious teeth, Hypertonia, Eczema, High, narrow palate, Cardio... ORPHA:33364
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Choanal Atresia And Lymphedema
Lymphedema, High palate, Pericardial effusion, Choanal atresia OMIM:613611
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Umbilical hernia, Cupped ear, Stereotypy, Cerebral... OMIM:618914
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Weight loss, Conjunctivitis, Hepatitis, Sen... ORPHA:47
Papilloma Of Choroid Plexus
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Edinburgh Malformation Syndrome
Thin vermilion border, Brushfield spots, Short nose, Narrow mouth, Downturned corners of mouth, H... ORPHA:1895
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Ventriculomegaly, Poor coordination, Paroxysmal dyskinesia, Ataxia, Falls, Ster... OMIM:619150
Congenital Hypothyroidism
Abnormal eyelid morphology, Large fontanelles, Palpebral edema, Large posterior fontanelle, Abnor... ORPHA:442
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ectropion, Abnormality of extrapyramidal motor function, Craniofacia... ORPHA:910
C Syndrome
Cryptorchidism, Omphalocele, High palate, Clitoral hypertrophy, Dislocated radial head, Postaxial... OMIM:211750
Coffin-Siris Syndrome 10
Ventricular septal defect, Spastic tetraparesis, Epicanthus, Wide mouth, Persistence of primary t... OMIM:618506
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Repetitiv... OMIM:607485
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Narrow palate, Phalangeal dislocation, Pericardial effusion, Long uvula, Sandal g... ORPHA:536532
Meier-Gorlin Syndrome 7
Cryptorchidism, Narrow mouth, Choanal atresia, Bowing of the legs, High palate, Clitoral hypertro... OMIM:617063
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Coarctati... OMIM:217095
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Highly arched eyebrow, Wormian bones, Wide anterior fontanel, Blepharophimosis, Fr... OMIM:614541
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Conductive hearing impairment, Rhizomelia, Recurrent otitis media, Megalencephaly, Hydrocephalus,... OMIM:100800
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Clinodactyly of the 3rd finger, Lacrimal duct stenosis, Dermatochalasis, Chronic oral candidiasis... ORPHA:221139
Ck Syndrome
Slender build, Almond-shaped palpebral fissure, Microretrognathia, Upslanted palpebral fissure, E... ORPHA:251383
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Macrotia, Midface retrusion, Epicanthus, Abnormal facial shape, Thick eyebrow, Pt... OMIM:617268
Schinzel-Giedion Syndrome
Wormian bones, Facial hemangioma, Hypsarrhythmia, Hypertonia, Camptodactyly, Abnormality of the s... ORPHA:798
Moebius Syndrome
Absent hand, Finger syndactyly, Epicanthus, Corneal opacity, Aplasia/Hypoplasia involving the met... ORPHA:570
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Spastic tetraplegia, Short stature, Simplified gyral pattern, Microcephaly... OMIM:616681
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Ataxia, Frontot... ORPHA:391417
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Palpebral edema, Poor motor coordination, Ataxia, Low-set ears, Unsteady gait, Protruding ear, Lo... OMIM:614756
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements, Macrotia ORPHA:397933
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Vertigo, Gait ataxia, Cranial nerve compression, Pr... ORPHA:268882
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
15Q13.3 Microdeletion Syndrome
Frontal bossing, Macrotia, Epicanthus, Protruding ear, Short stature, Downslanted palpebral fissu... ORPHA:199318
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agene... ORPHA:85179
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Short philtrum, Talipes equinovarus, Drooling, Ventricular septal defect, Low-set... ORPHA:3306
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Carious teeth, Conjunctivitis, Cataract, Keratitis, Sparse and t... OMIM:612843
Ifap Syndrome 2
Posterior blepharitis, Angular cheilitis, Cataract, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Low-set ears, Hyperactivity, Macrocephaly, Long nose, Prominent nasal br... OMIM:309520
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Broad thumb, Long eyelashes, Broad hallux, Syndactyly, Retrog... OMIM:613684
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Polyhydramnios, Bifid epiglottis, Choanal atresia, Cleft palate OMIM:241850
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Sensorineural hearing impairment, Small for gestational age, Hypera... ORPHA:73272
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Delayed puberty, Failure to thrive, Short stature, Psoriasiform dermatiti... OMIM:616834
Anophthalmia Plus Syndrome
Blepharophimosis, Low-set, posteriorly rotated ears, Choanal atresia, Bilateral cleft lip and pal... ORPHA:1104
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Basal ganglia cysts, Dystonia, Lethargy, Increased CSF lactate, Ventriculomegaly... OMIM:312170
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum, Failure to thrive OMIM:300952
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Coloboma Of Macula
Macular coloboma OMIM:120300
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Preaxial hand polydactyly, Short nose, Ventricular septal defect, Overfolde... OMIM:610536
Frontofacionasal Dysplasia
Brushfield spots, Short nose, Depressed nasal ridge, Blepharophimosis, Aplasia/Hypoplasia of the ... ORPHA:1791
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Spasticity ORPHA:356996
Bainbridge-Ropers Syndrome
Inability to walk, Bulbous nose, Underdeveloped nasal alae, Hypertonia, Recurrent hand flapping, ... ORPHA:352577
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Flat face, Absent extraocular muscles, Abnormal auditory evoked potentials, Senso... OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Scalp-Ear-Nipple Syndrome
Small earlobe, Developmental cataract, Blepharophimosis, Pyelonephritis, Palpebral edema, Mandibu... OMIM:181270
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Bradykinesia, Dysplastic corpu... OMIM:614924
Ck Syndrome
Slender build, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Epicanthus, Abnormal... OMIM:300831
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Ventriculomegaly, Poor fine motor coordination, ... ORPHA:157941
Episodic Ataxia Type 4
Incoordination, Vertigo, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Long philtrum, Thin vermilion border, Genu valgum, Metaphyseal irregularity, Flexion contracture,... OMIM:616007
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Central retinal vessel vascular tortuo... ORPHA:506353
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Anosmia, Choanal atresia, Iris coloboma, Tooth agenesis, Clinodactyly, Sensorineu... OMIM:147950
Spastic Paraplegia 81, Autosomal Recessive
Upper limb spasticity, Ankle clonus, Lower limb spasticity, Sensorineural hearing impairment, Bab... OMIM:618768
Familial Cold Urticaria
Conjunctivitis, Dehydration, Sensorineural hearing impairment, Arthritis ORPHA:47045
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormality of the antihelix, Underdeveloped nasal alae, Macrotia, Low-set, posteriorly rotated e... ORPHA:1968
Paganini-Miozzo Syndrome
Low-set ears, Dilation of lateral ventricles, Microtia OMIM:301025
Trichothiodystrophy 1, Photosensitive
Erythroderma, Flexion contracture, Absence of subcutaneous fat, Cataract, Triangular mouth, Protr... OMIM:601675
Corpus Callosum, Agenesis Of
Microcephaly, Growth delay, Agenesis of corpus callosum OMIM:217990
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Bulbous nose, Hyperactivity, Macrotia, Gait disturbance, Abnor... OMIM:614104
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Cataract, Hearing impairment, Protruding ear, Microcornea, Keratoco... ORPHA:1806
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Heterotaxy, Visceral, 4, Autosomal
Ectopia of the spleen, Right aortic arch OMIM:613751
Nijmegen Breakage Syndrome
Premature ovarian insufficiency, Recurrent bronchitis, Bronchiectasis, Macrotia, Hyperactivity, C... OMIM:251260
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Upper eyelid coloboma, Lower eyelid coloboma, Dolichocephaly, Abnormal... OMIM:167730
Popov-Chang syndrome
Recurrent otitis media, Failure to thrive, Short stature, Long nose, Anteverted nares, Depressed ... OMIM:618428
Truncal ataxia, Cerebral white matter atrophy, Low-set ears, Posteriorly rotated ears, Sensorineu... ORPHA:263487
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Long philtrum, Buphthalmos, Gait ataxia, Tented philtrum, Smooth philtrum, Laterally extended eye... OMIM:618479
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Overweight, Upper limb spasticity, Ventriculomegaly, Spasticity, Decre... OMIM:619229
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebral atrophy, Babinski sign, Seco... ORPHA:397951
Distal 22Q11.2 Microduplication Syndrome
Abnormality of the antihelix, Optic disc coloboma, Mandibular prognathia, Triangular face, Abnorm... ORPHA:261337
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Choanal atresia, Small for gestational age, Short thum... OMIM:619148
Immunodeficiency, Common Variable, 1
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Conjunctivitis, Recurrent... OMIM:607594
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Erythroderma, Conjunctivitis, Sensorineural hearing impairment, Failure to thrive, S... OMIM:242150
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent pneumonia OMIM:240500
Wolf-Hirschhorn Syndrome
Split hand, Iris coloboma, Ectopia pupillae, Metatarsus adductus, Sensorineural hearing impairmen... OMIM:194190
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Epicanthus, Decreased body weight, Postnatal growth retardation, Cataract, Hearing impairment, Ed... OMIM:612947
De Sanctis-Cacchione Syndrome
Ectropion, Ataxia, Severe short stature, Conjunctivitis, Sensorineural hearing impairment, Kerati... OMIM:278800
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Hemi... OMIM:617542
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Ataxia, Cataract, Conjunctivitis, Sensorineural hearing impairment, Keratitis, Keratoc... OMIM:278730
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Speech apraxia, Drooling, Failure to thrive in infancy, Stereotypy, Broad... OMIM:613670
Developmental And Epileptic Encephalopathy 95
Inability to walk, Thickened helices, Gait disturbance, EEG with burst suppression, Ataxia, Poste... OMIM:618143
4Q21 Microdeletion Syndrome
Tremor, Toe syndactyly, Large fontanelles, Frontal bossing, Growth delay, Long eyelashes, Synophr... ORPHA:238750
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Micr... OMIM:225790
Xeroderma Pigmentosum, Complementation Group A
Ectropion, Ataxia, Conjunctivitis, Sensorineural hearing impairment, Keratitis, Entropion, Choreo... OMIM:278700
Transaldolase Deficiency
Thin vermilion border, Atrial septal defect, Short philtrum, Oligohydramnios, Ventricular septal ... OMIM:606003
Osteoglosphonic Dysplasia
Cryptorchidism, Rhizomelia, Choanal atresia, Failure to thrive in infancy, Tooth agenesis, Inguin... ORPHA:2645
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Ectropion, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Corneal dystrophy, B... OMIM:308800
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Choreoathetosis, Increased CSF lactate, Spastic tetraplegia, Failure to thrive, Intraut... OMIM:618238
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Upslanted palpebral fissure, Recurrent otitis media, Epicanthus, Abnormal facial shape, Failure t... OMIM:615286
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect, Anteverted nares, Fused labia minora, Wide mouth, Thin upper lip vermilion,... OMIM:608688
Beh├žet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Weight loss, Pulmonary embol... ORPHA:117
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Short nose, Spasticity, Posteriorly rotated ears, Low-set ears, Optic atrophy, Osteopenia, Long n... OMIM:618590
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Lacrimal punctal atresia, Sparse eyebrow, Hypoplasia of... ORPHA:2399
Skin rash, Cutaneous abscess, Pleural effusion, Pneumonia, Conjunctivitis, Inflammatory abnormali... ORPHA:3392
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Hip dysplasia, Dystonia, Gait ataxia, Facial hypotonia, Overlapping toe, Difficulty walking, Upsl... OMIM:617807
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hearing impairment, Endometriosis, Long nose, Mild microcephaly,... ORPHA:363444
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Low-set, posteriorly rotated ears, Epicanthus, Small anterio... ORPHA:3369
Mucolipidosis Iv
Dystonia, Cerebral dysmyelination, Dysplastic corpus callosum, Spastic tetraplegia, Babinski sign... OMIM:252650
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Skin rash, Camptodactyly of finger, Uveitis, Conjun... ORPHA:575
Flotch Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormality of the eye, Ble... ORPHA:2045
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Short phalanx of finger, Recu... OMIM:225410
48,Xxyy Syndrome
Carious teeth, Abnormal dental enamel morphology, Broad jaw, Obesity, Hip dysplasia, Radioulnar s... ORPHA:10
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Postnatal growth retardat... OMIM:304050
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Mandibular prognathia, Thick eyebrow, Narrow fac... ORPHA:85278
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Thin vermilion border, Short philtrum, Underdeveloped nasal ... OMIM:272440
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Macrotia, Upslanted palpebral fissure, 2-3 toe syndactyly, Synophrys, Brachydactyly, Thick eyebro... OMIM:617061
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Glycine Encephalopathy
Myoclonus, Lethargy, Agenesis of corpus callosum, Hyperactivity OMIM:605899
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Spastic paraplegia, Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hy... OMIM:307000
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Blepharophimosis, Palpebral edema, Craniofacial hyperostosis, Synophrys, A... ORPHA:965
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, He... ORPHA:2182
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
Snijders Blok-Campeau Syndrome
Frontal bossing, Speech apraxia, Midface retrusion, Epicanthus, Low-set ears, Unsteady gait, Ster... OMIM:618205
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Hypoplastic helices, Blepharophimosis, Recurrent otitis media, Mand... ORPHA:391372
22Q11.2 Duplication Syndrome
Stereotypy, Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch ORPHA:1727
Optic Atrophy 11
Facial diplegia, Macrotia, Midface retrusion, Hyperkinetic movements, Ataxia, Hearing impairment,... OMIM:617302
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Coarctation of aorta ORPHA:280195
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Long philtrum, Delayed eruption of teeth, Highly arched eyebrow, Underdevelo... OMIM:618825
Ascher Syndrome
Abnormal eyelid morphology, Blepharophimosis, Ptosis, Upper eyelid edema, Deviation of finger ORPHA:1253
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy OMIM:609924
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Postnatal growth retardation, Triangular face, Small for gestational age, ... OMIM:613792
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Dolichocephaly, Severe short stature, Cut... OMIM:203550
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Abnormality of upper lip, Blepharophimosis, Upslanted palp... ORPHA:2707
Oculodentodigital Dysplasia, Autosomal Recessive
Underdeveloped nasal alae, Low-set ears, Failure to thrive, Short stature, Long nose, Large earlo... OMIM:257850
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hearing impairment, Cortical dysplasia, Hype... ORPHA:457260
Beckwith-Wiedemann Syndrome
Otosclerosis, Polyhydramnios, Facial hemangioma, Posterior helix pit, Wide anterior fontanel, Lar... ORPHA:116
Craniotelencephalic Dysplasia
Hydrocephalus, Low-set, posteriorly rotated ears, Arrhinencephaly, Septo-optic dysplasia, Microce... ORPHA:1528
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
17P11.2 Microduplication Syndrome
Speech apraxia, Low-set, posteriorly rotated ears, Poor fine motor coordination, Triangular face,... ORPHA:1713
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Short toe, Round face, Short metatarsal, Short phalanx of finger, Blepharo... OMIM:600430
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Hypsarrhythmia, Long eyelashes, Synophrys, Multifocal epileptiform discharges,... ORPHA:411986