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Gene: Lmx1a MGI:1888519

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox transcription factor 1 alpha
Synonyms:
shaker short-tail,  Lmx1.1

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 Lmx1a 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 Lmx1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412

The table below shows human diseases predicted to be associated to Lmx1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Deafness, Congenital, With Total Albinism
Albinism, Hearing impairment OMIM:220900
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal repetitive mannerisms, Ventriculomegaly, Attention deficit hyperactivity ... OMIM:618709
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... ORPHA:1008
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Spasticity, Aggressive behavior OMIM:615493
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... OMIM:612964
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Cafe-au-lait spot, Low-set ears ORPHA:436151
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Spasticity, Aggressive behavior ORPHA:356996
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
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait... OMIM:616291
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis, Dysphagia OMIM:611694
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Ataxia OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Perrault Syndrome 4
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... OMIM:615300
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... OMIM:618090
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... ORPHA:382
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair, Incoordination, Aggressive behavior OMIM:618808
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hydrocephalus, Small nail, Abnormal repetitive mannerisms OMIM:619470
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
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
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
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Usher Syndrome Type 3
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... ORPHA:231183
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... ORPHA:100973
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Protruding ear, Hypoplasia of the ... ORPHA:247768
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pineocytoma
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... ORPHA:231169
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Fro... OMIM:300983
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hype... OMIM:605361
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal cranial nerve morphology, Low post... ORPHA:2345
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Synophrys, Unsteady g... OMIM:616127
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
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:613265
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia ORPHA:284271
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... ORPHA:33445
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... OMIM:614841
Fried Syndrome
Hydrocephalus, Macrotia, Aggressive behavior, Hearing impairment ORPHA:85335
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
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Primary amenorrhe... OMIM:614129
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Athetosis, Spasticity, Hypopigmentation of the skin, Dandy-Walker malformation OMIM:257800
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... OMIM:617691
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Chia... OMIM:207950
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Ab... ORPHA:894
Satoyoshi Syndrome
Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the... ORPHA:3130
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... ORPHA:895
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ... OMIM:619565
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Sparse pubic hair, Decreased fertility, Se... ORPHA:243
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Deafness-Infertility Syndrome
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Congenital senso... ORPHA:432
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... OMIM:614229
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Ankle clonus, Spasticity OMIM:616657
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... ORPHA:248111
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Dysphagia, Athetosis, Dysd... OMIM:248900
Premature Ovarian Failure 18
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... OMIM:619203
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Noonan Syndrome
Low-set, posteriorly rotated ears, Abnormal hair quantity, Aplasia of the semicircular canal, Sen... ORPHA:648
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... OMIM:619028
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Amed Syndrome, Digenic
Hypoplasia of the uterus, Hyperpigmentation of the skin, Attention deficit hyperactivity disorder OMIM:619151
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... ORPHA:90646
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Schwannoma, Chiari type I malform... ORPHA:221098
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot... ORPHA:352682
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Chorea, Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behav... OMIM:618917
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... ORPHA:268882
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
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
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
7Q31 Microdeletion Syndrome
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... ORPHA:251061
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... OMIM:616230
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Nevus Comedonicus Syndrome
Spina bifida, Abnormal hair morphology, Scoliosis, Spina bifida occulta, Abnormal vertebral morph... ORPHA:64754
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... OMIM:301107
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach... OMIM:607432
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
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
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Bilateral Polymicrogyria
Cerebellar atrophy, 4-layered lissencephaly, Sensorineural hearing impairment, Perisylvian polymi... ORPHA:268940
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressiv... OMIM:617225
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ... OMIM:619665
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Cu... OMIM:110100
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia 12
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... OMIM:604326
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
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
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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Ab... OMIM:172800
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of... ORPHA:2578
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Atte... ORPHA:3000
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi... OMIM:611603
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... OMIM:618088
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls ORPHA:79136
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... OMIM:618718
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Syn... OMIM:193510
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Enlar... ORPHA:90796
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Tick-Borne Encephalitis
Back pain, Abnormal medulla oblongata morphology, Facial palsy, Anorexia, Hearing impairment, Ver... ORPHA:297
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, ... ORPHA:65
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing OMIM:618760
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... OMIM:619686
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... OMIM:618369
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... ORPHA:95433
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
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
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... ORPHA:98764
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... OMIM:609136
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... ORPHA:500180
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Distal Deletion 10Q
Ataxia, Aggressive behavior, Hypoplastic toenails, Congenital sensorineural hearing impairment, W... ORPHA:96148
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy OMIM:618412
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... OMIM:601706
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder ORPHA:261102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, ... ORPHA:99429
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... ORPHA:228360
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... ORPHA:98
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Edinburgh Malformation Syndrome
Frontal hirsutism, Hydrocephalus OMIM:129850
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Seckel Syndrome 7
Hypoplasia of the uterus, Microtia, Primary amenorrhea OMIM:614851
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea... OMIM:607136
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation, Low-set ears OMIM:300884
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of secondary sexual hair, Attention deficit hyperactivity disorder, Ag... ORPHA:649929
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... ORPHA:157941
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Periventricular heterotopia, Hypoplasi... OMIM:616171
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
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
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Lat... OMIM:609637
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Optic atrophy, Lissencephaly, Agenesis of corpus call... ORPHA:99742
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms... ORPHA:228402
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy OMIM:613909
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Sacral dimple, Highly arched eyebrow, Spina ... ORPHA:1327
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
1Q21.1 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250994
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot... OMIM:125250
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug... ORPHA:411515
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Severe temper tantrums, Dysmetria, Gait ataxia, Attention deficit hyp... OMIM:614306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Low ... OMIM:613153
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Highly arched eyebrow, Syn... OMIM:617751
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Protru... ORPHA:3464
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Cdkl5-Deficiency Disorder
Impaired pain sensation, Synophrys, Gait disturbance, Inappropriate laughter, Difficulty walking,... ORPHA:505652
Xq25 Microduplication Syndrome
Sparse eyebrow, Hyperactivity, Cerebellar hypoplasia, Highly arched eyebrow ORPHA:521258
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L... OMIM:618362
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism ORPHA:1114
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex reversal, Hypopl... OMIM:154230
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
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Toenail dysplasia, Low-set ears ORPHA:1532
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Conduct... OMIM:618497
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... ORPHA:300573
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:603516
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:277580
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Posteriorly rotated ears, Highly arched eyebrow, Hypoplastic fifth fingernail,... OMIM:615866
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Progressive sensorineu... OMIM:304700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
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
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Truncal ataxia, Dysmetria, Limb ataxia, Hand trem... ORPHA:276198
Alazami-Yuan Syndrome
Hyperactivity, Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... OMIM:617126
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Low anterior hairline, Optic atrophy, Self-injurious behavior, Thin eyebrow, ... OMIM:619690
Fountain Syndrome
Spina bifida, Kyphosis, Synophrys, Sensorineural hearing impairment, Abnormal form of the vertebr... ORPHA:3219
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the... ORPHA:785
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Cerebellar hypoplasia, Thick eyebrow OMIM:300979
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Oculogyric crisis, Inability to walk, Chorea, Self-injurious behavior, Hyperkinetic mov... OMIM:614254
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Foxg1 Syndrome
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walki... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... OMIM:614104
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia OMIM:300558
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkin... OMIM:271980
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Abnormality of skin pig... ORPHA:457260
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Melanin pigment aggregation in hair... OMIM:607624
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Apert Syndrome
Sensorineural hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Optic at... ORPHA:87
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O... ORPHA:1528
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
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
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, ... OMIM:614487
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Lumbar h... ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Bruxism OMIM:300434
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy ORPHA:276183
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer... OMIM:183086
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, ... OMIM:618004
Congenital Hydrocephalus
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Colpocephaly, Ventricu... ORPHA:2185
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Trisomy 20P
Low-set, posteriorly rotated ears, Thick hair, Highly arched eyebrow, Spina bifida, Short neck, K... ORPHA:261318
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Thick hair, Highly arched eyebrow, Aggressive behavior, ... OMIM:617773
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Vertebral segmentation defect, Aplasia/Hypoplasia of the earlo... ORPHA:1104
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperk... OMIM:619738
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Aggressive behavior, Impulsi... OMIM:607454
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Restless legs, Somatic sensory... ORPHA:101085
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, ... ORPHA:1926
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa... OMIM:301029
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydro... ORPHA:2437
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Abnormal eyelash morphology, Abnormal hair morphology, ... ORPHA:2671
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Christianson Syndrome
Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repe... ORPHA:85278
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Congenital sensorineural hearing ... OMIM:193500
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Partial agenesis of the corpus callo... OMIM:304050
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hearing impairment, Prot... OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 68
Synophrys, Hydrocephalus, Broad eyebrow, Protruding ear OMIM:618302
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Hypospadias, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Poor coordinati... ORPHA:544254
Myoectodermal Gonadal Dysgenesis Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Sensorineural... OMIM:618419
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia,... ORPHA:177910
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar h... OMIM:615181
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Highly arched eyebrow, Cryptorchidism, Repetitive compulsive behav... ORPHA:352490
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus OMIM:605899
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spasticity, Abnor... ORPHA:280763
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, ... OMIM:128100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Lissencephaly, Cerebellar hypoplasia, Low-set ears, Scoliosis OMIM:616038
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... OMIM:609727
Papillary Tumor Of The Pineal Region
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, H... OMIM:614153
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hydrocephalus, ... ORPHA:1908
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Kleeblattschaedel
Hydrocephalus OMIM:148800
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Abnormal pinna morphology, Spina bifida, Hydrocephalus, Prominent protrudin... ORPHA:2839
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conductive hearing impairment, Narr... ORPHA:207
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... OMIM:611390
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Macrotia, Abnormal repetitive ... DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa... OMIM:300055
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap... ORPHA:43
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Kyphoscoliosis, Facial diplegia, Gray matter heterotopia, Pachygyria, Cerebel... ORPHA:370980
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Phenylketonuria
Hyperactivity, Aggressive behavior, Blue irides, Attention deficit hyperactivity disorder, Compul... OMIM:261600
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ha... OMIM:300406
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Optic... OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms, He... OMIM:616351
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic... ORPHA:2701
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia ORPHA:139480
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anencephaly, Absent ... ORPHA:63259
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Landau-Kleffner Syndrome
Speech apraxia, Hyperactivity, Impulsivity, Aggressive behavior, Slurred speech, Gait ataxia, Ste... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... OMIM:615516
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Oculocerebrocutaneous Syndrome
Alopecia, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walk... OMIM:164180
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I... ORPHA:411511
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Edinburgh Malformation Syndrome
Brushfield spots, Hydrocephalus, Synophrys, Abnormality of neuronal migration, Low posterior hair... ORPHA:1895
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia... ORPHA:2232
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Mismatch Repair Cancer Syndrome 4
Multiple cafe-au-lait spots, Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
6P22 Microdeletion Syndrome
Overfolded helix, Hydrocephalus, Low-set ears, Hearing impairment ORPHA:251046
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Vanishing te... ORPHA:325124
Intellectual Developmental Disorder, Autosomal Dominant 65
Posteriorly rotated ears, Aggressive behavior, Synophrys, Noncommunicating hydrocephalus, Low pos... OMIM:619320
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Synophrys, Abnormality of the outer ear, Self hugging, He... OMIM:182290
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait OMIM:620145
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor,... ORPHA:98771
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hear... OMIM:600430
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Precocio... OMIM:202010
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity d... OMIM:618825
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Self-injurious behavior, Agenesis of corpus callosum, Long eyela... ORPHA:238750
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Walker-Warburg Syndrome
Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Optic atroph... ORPHA:899
Wildervanck Syndrome
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior... ORPHA:3456
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Abnormality of neuronal migration, Platyspondyly, Holopro... ORPHA:93274
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia, Low-set ears OMIM:616258
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Unsteady gait,... ORPHA:485350
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Hyperactivity, Abnormality of retinal pigmentation, Im... ORPHA:580
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callo... OMIM:616212
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem... ORPHA:98794
Radio-Tartaglia Syndrome
Tremor, Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mann... OMIM:619312
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... OMIM:617865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Ataxia-Telangiectasia
Hypopigmentation of hair, Ataxia, Tremor, Polycystic ovaries, Premature graying of hair, Gait dis... ORPHA:100
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Sensorineural hearing impairment, Hyd... OMIM:304340
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Inability to walk, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hear... OMIM:619877
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Uplifted earlobe, Synophrys OMIM:300143
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention defi... ORPHA:79254
Diencephalic Syndrome
Hydrocephalus, Macrotia ORPHA:1672
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Vertebral segmentation defect, Spina bifida ORPHA:1120
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... OMIM:619121
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de... ORPHA:83463
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:609924
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Hy... OMIM:614643
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dysphagia, Dandy-Walker ... ORPHA:163961
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:500159
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Myoclonus, Aggressive behavior ORPHA:2382
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Long eyelashes, Horizontal eyebrow, Attention deficit hyperactivity disorder, Chro... OMIM:609757
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Spina bifida, Optic nerve hypoplasia, H... ORPHA:508498
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Highly arched eyebrow, Hydroc... ORPHA:475
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia ORPHA:369939
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Synophrys, Inability to walk, Low anterior hairline, Large earlobe, Long eye... ORPHA:411986
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Micrope... ORPHA:457240
Split Cord Malformation
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Tufte... ORPHA:573278
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:858
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Low-set ears, Abnormal repetitive manneri... OMIM:613443
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Posteriorly rotated ears, Aggressive behavior, Periventricular het... OMIM:619833
Nasu-Hakola Disease
Hydrocephalus, Disinhibition, Ventriculomegaly ORPHA:2770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Sensorineural hearing impairment, Hydrocephalus ORPHA:99947
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Br... OMIM:610217
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Hydrocephalus, Optic atrophy, Ch... OMIM:618476
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Kyphoscoliosis, Partial... ORPHA:300570
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee, Micropenis, Cl... OMIM:309801
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Posteriorly rotated ears, Spina bifida, Highly arched eyebrow, Short neck, Hydroce... OMIM:613776
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... OMIM:249400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Sensorineural hearing impairment, Premature ovarian insufficiency, Female inf... OMIM:619518
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Abnormal reproductive system morphology, ... ORPHA:70472
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysp... OMIM:613155
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Aplasia/Hypoplasia of... ORPHA:990
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Ataxia, Hearing impairment, Aggressive behavior, Low anterior hairli... ORPHA:369891
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Koolen-De Vries Syndrome Due To A Point Mutation
Protruding ear, Chiari type I malformation, Hypopigmentation of the skin, Agenesis of corpus call... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Protruding ear, Chiari type I malformation, Hypopigmentation of the skin, Agenesis of corpus call... ORPHA:363958
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Synophrys, Microtia, D... OMIM:616977
Otosclerosis 10
Otosclerosis OMIM:615589
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Hypospadias, Rigidity, Repetitive compulsive b... OMIM:300260
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Compulsi... OMIM:618430
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Synophrys, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping OMIM:613192
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hydrocephalus, Sensorineural hearing impairment,... ORPHA:53271
Hallermann-Streiff Syndrome
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Spina bifida, Hyperlordosis, Sparse eyebrow, ... OMIM:234100
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ata... OMIM:103050
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Spasticity, Abn... OMIM:617807
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism, Hearing impairment OMIM:252920
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai... OMIM:615219
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Spasticity, Gait ataxia, Microphallus, Micropenis, ... OMIM:300486
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, A... OMIM:300986
Nail-Patella Syndrome
Ridged nail, Back pain, Lumbar hyperlordosis, Spina bifida, Concave nail, Sensorineural hearing i... OMIM:161200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Attention deficit hyperac... ORPHA:459061
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Coffin-Siris Syndrome 2
Sparse scalp hair, Hyperactivity, Thick eyebrow, Abnormal pinna morphology, Absent fifth fingerna... OMIM:614607
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Arachnoiditis
Hydrocephalus, Tinnitus, Hearing impairment ORPHA:137817
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Synophrys, Macrotia, Abnorma... ORPHA:391307
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, Low-set ears, CSF lymphocytic pleiocytosis OMIM:610333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Stenosis of the external auditory canal, Hydrocephalus, Low-set ears ORPHA:1516
Ritscher-Schinzel Syndrome 4
Curly hair, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysphagi... OMIM:619435
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Azoospermia,... ORPHA:10
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Coffin-Siris Syndrome 7
Hypoplastic fifth toenail, Hyperactivity, Sparse scalp hair, Posteriorly rotated ears, Severe tem... OMIM:618027
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:615637
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... ORPHA:2318
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... OMIM:601853
Phakomatosis Pigmentokeratotica
Spina bifida, Melanocytic nevus, Patchy alopecia, Pheochromocytoma, Scoliosis ORPHA:2874
Charge Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Facial palsy, External ear malf... ORPHA:138
7Q11.23 Microduplication Syndrome
Dysmetria, Chronic otitis media, Abnormal repetitive mannerisms, Aplasia/hypoplasia of the uterus... ORPHA:96121
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tetraparesis, Shawl scrotum ORPHA:85277
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Gray matter heterotopia, Platyspon... ORPHA:2655
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism ORPHA:2786
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cry... OMIM:123450
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Wide anterior fontanel, S... ORPHA:44
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Ataxia, Synophrys, Fine hair, Head tremor, Abnormal repetitive mannerisms OMIM:619428
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, ... ORPHA:3412
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
17Q24.2 Microdeletion Syndrome
Otosclerosis, Aggressive behavior, Synophrys, Microtia, Recurrent otitis media, Progressive condu... ORPHA:529962
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:228384
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s... ORPHA:139396
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Sensorineural hearing impairment, Spinal dysraphism, Incomp... OMIM:617660
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Attention deficit hyperactivity disor... ORPHA:216866
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Temple Syndrome
Few cafe-au-lait spots, Hydrocephalus, Polyphagia ORPHA:254516
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnormal repetiti... OMIM:618504
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment OMIM:617577
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Synophrys, Coarse hair, Umbilical hernia, Hirsutism, Hearing impairment OMIM:252900
Saethre-Chotzen Syndrome
Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ... ORPHA:794
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... OMIM:603546
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Cerebrocostomandibular Syndrome
Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Kyphosis, Atresia of ... ORPHA:1393
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Microtia, Hydrocephalus, Hearing impairment ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Thick eyebrow, Aggressive behavior, Tremor, Synophrys, Low anterior hairline,... OMIM:617061
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Sensorineural hearing impairment,... OMIM:620075
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Spasticity, Hearing imp... OMIM:300958
Rubinstein-Taybi Syndrome 2
Hyperactivity, Thick eyebrow, Posteriorly rotated ears, Highly arched eyebrow, Long eyelashes, Po... OMIM:613684
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Ataxia, Spastic tetraparesis, Impulsivity, Cerebellar gliosis,... ORPHA:35069
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Hydroc... ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Facial palsy, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Mosaic Trisomy 9
Spina bifida, Short neck, Hemivertebrae, Low-set ears, Small nail, Scoliosis, Dandy-Walker malfor... ORPHA:99776
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus, Low-set ears OMIM:601186
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
3C Syndrome
Short neck, Kyphosis, Hydrocephalus, Optic atrophy, Hemivertebrae, Abnormality of neuronal migrat... ORPHA:7
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Posteriorly rotated ears, Sparse eyelashes, Highly arched eyebrow, Hypospadias... OMIM:619293
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Low-set, posteriorly rotated ears, Optic nerve hypoplasia,... ORPHA:468631
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrap... OMIM:615673
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Low anterior hairline, Protruding ear, Lateral ventricle dilatation, Sma... OMIM:614219
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Supernumerary nipple, Impaired pain sensation, Gait ataxia, Low-set ears, Abnorma... OMIM:616579
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... ORPHA:168491
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre... ORPHA:73272
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Cerebellar vermis hypoplasia, Highly arched eyebrow, Partial agenesis of the corpu... OMIM:619775
Sirenomelia
Absence of the sacrum, Spina bifida, Sirenomelia ORPHA:3169
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp... ORPHA:760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Lateral ventricle dilatati... OMIM:618914
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Bresek Syndrome
Alopecia, Hydrocephalus, Protruding ear, Low-set ears, Hearing impairment ORPHA:85284
Hijazi-Reis Syndrome
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
47,Xyy Syndrome
Male infertility, Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Hydrocephalus, Olig... ORPHA:8
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Ventriculomegaly OMIM:602501
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Neurofi... OMIM:162200
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Short neck, Aplasia/Hypoplasia of the earlobes, ... ORPHA:2308
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of neuronal migration, Self-injurious behavior, Hol... ORPHA:261236
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Pigmentary retin... ORPHA:79264
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Hydrocephalus, Abnormal sacroiliac joint morphology, Kyphosis, Gray matte... ORPHA:1860
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Bilateral conductive hearing impairment, Interictal epileptiform activity, Lo... OMIM:617802
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Ogden Syndrome
Abnormal head movements, Torticollis, Fine hair, Low-set ears, Macrotia, Aplasia/Hypoplasia of th... ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Synophrys, ... OMIM:619512
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Low-set ears OMIM:220220
Focal Dermal Hypoplasia
Alopecia, Spina bifida, Abnormality of skin pigmentation, Low-set ears, Scoliosis, Umbilical hern... ORPHA:2092
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... OMIM:610883
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Hearing impairment OMIM:245200
Oromandibular Dystonia
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Blepharospasm, Hyperkinetic movements,... ORPHA:93958
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Dilated third ventricle, Hydrocephalus, Abnormal temper tantrum... ORPHA:500055
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair OMIM:614613
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Posteriorly rotated ears, Abnormal cortical gyration, Exencephaly, ... ORPHA:2211
Trisomy 18
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Spina bifida, Anencephaly... ORPHA:3380
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Synophrys, Hypertrichosis, Coarse hair, Dysphagia, Hirsutism, Hearing impairment OMIM:252930
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal pinna morphology, Vertigo, Hydrocephalus, Severe sensorineural hearing impairment, Nasof... OMIM:614195
Infantile Sialic Acid Storage Disease
Hydrocephalus, Fair hair, Hypopigmentation of the skin OMIM:269920
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Thoracic scoliosis, Short nail, Spina bifida, Cervical kyphos... OMIM:114290
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Chorea, Dysphagia, Titubation, Gait ataxia, Dystonia, Abnormal posturing ORPHA:225147
Holoprosencephaly
Encephalocele, Thick eyebrow, Highly arched eyebrow, Short neck, External ear malformation, Hydro... ORPHA:2162
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Angelman Syndrome
Hypopigmentation of the skin, Hyperactivity, Fair hair, Precocious puberty in females, Ataxia, Br... ORPHA:72
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub... ORPHA:163681
Basal Cell Nevus Syndrome 1
Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... OMIM:109400
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Low-set ears, Abnormal repetitive mannerisms, Self-muti... ORPHA:319671
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
Microcephaly 29, Primary, Autosomal Recessive
Thick eyebrow, Hyperactivity, Enlarged cerebellum, Ataxia OMIM:620047
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Limb tremor, Clumsiness, Progressive gait a... OMIM:105830
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Optic atrophy, Abnormality of n... ORPHA:2518
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Posteriorly rotated ears, Spina bifida, Partial agenesis of the corpus callosum, C... OMIM:619480
Neu-Laxova Syndrome 1
Spina bifida, Short neck, Absent eyelashes, Stillbirth, Lissencephaly, Short umbilical cord, Smal... OMIM:256520
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Hyperactivity, Posteriorly rotated ears, Highly arched eyebrow, Ag... OMIM:301069
Vici Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the pons, Sensorineural hearing impairment, Op... ORPHA:1493
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral v... OMIM:619575
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, D... ORPHA:778
Rubinstein-Taybi Syndrome 1
Low anterior hairline, Frontal hirsutism, Spina bifida occulta, Agenesis of corpus callosum, Self... OMIM:180849
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypertonia, ... ORPHA:3322
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia OMIM:243440
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria ORPHA:99802
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... OMIM:620242
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... ORPHA:98795
9P13 Microdeletion Syndrome
Hyperconvex nail, Highly arched eyebrow, External genital hypoplasia, Abnormality of cartilage of... ORPHA:324313
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the cor... OMIM:619103
13Q12.3 Microdeletion Syndrome
Hyperactivity, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hearing impairment ORPHA:412035
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Long eyelashes, Macrot... OMIM:617281
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Low-set ears, Umbilical hernia, Abnormal repetitive man... OMIM:618205
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Desmosterolosis
Low-set, posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Abnormal earlobe mo... ORPHA:35107
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Long eyelashes, Ventriculomegaly OMIM:618577
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonad... ORPHA:398079
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Frontal bal... ORPHA:1942
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... ORPHA:626
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Optic atrophy, Abnormality of neuronal migration ORPHA:991
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:613266
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Umbilical hernia, Abnormal rep... OMIM:618354
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Short neck, Wide anterior fontanel, Hydrocephalus, Partial a... OMIM:305450
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Highly arched eyebrow, Hydrocephalus, Opti... ORPHA:1454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cerebellar dysplasia, Spinal rigidity, Hydrocephalus, Partial absence of cerebella... OMIM:613150
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:529965
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty... OMIM:300912
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Spasticity, Apraxia, Abno... OMIM:613454
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms, Paraplegia, Ataxia ORPHA:927
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Oculocerebrocutaneous Syndrome
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, External ear malformation, Hydrocepha... ORPHA:1647
Chromosome 17Q12 Deletion Syndrome
Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Pica, Protruding ear, Ov... OMIM:614527
Pilarowski-Bjornsson Syndrome
Speech apraxia, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow OMIM:617682
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hearing impairment, Hydrocephalus, White hair, Ocular albinism, Generalized hypopigmentation, Iri... ORPHA:2720
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Abnormal pinna morphology, Impaired pain sensation, Multiple cafe-au-lait spots, T... ORPHA:261211
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Kyphosis, Abnormal spinal cord morphology, Axonal degene... ORPHA:88628
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac... ORPHA:206448
Hemangioblastoma
Vertigo, Hydrocephalus ORPHA:252054
Man1B1-Cdg
Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair whorl, Periventricular heter... ORPHA:397941
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Underfolded superior helices, Hy... OMIM:300352
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Small scrotum, Hypospadias, Cryptorchidis... OMIM:201750
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni... OMIM:600145
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
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Thanatophoric Dysplasia, Type I
Short neck, Hydrocephalus, Gray matter heterotopia, Platyspondyly, Neonatal death, Severe platysp... OMIM:187600
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation OMIM:147800
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivit... ORPHA:261197
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Cerebellar edema, Multifocal epileptiform di... ORPHA:363558
Ulnar Hemimelia
Butterfly vertebrae, Scoliosis, Spinal dysraphism ORPHA:93320
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Primary amenorrhea, Aplasia o... OMIM:146255
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormally ossified verte... ORPHA:175
Rett Syndrome
Dystonia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity, Stereotypical hand wrin... OMIM:312750
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Ventriculomegaly, Hirsutism OMIM:175700
Optic Pathway Glioma
Vertigo, Hydrocephalus ORPHA:2086
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71526
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Spina bifida, Short neck, Hydrocephalus, Meningocele, Optic atrophy, Hypop... ORPHA:567
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Hypermelanotic macule, Tremor, Optic atrophy, Pigmen... ORPHA:90321
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Low posterior hairline, Self-injurious behavior, Compulsive behaviors, ... OMIM:613174
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Sensorineural hearing impairment, Cerebellar vermis hypoplasia, A... OMIM:300957
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Inability to walk, Sensorineural hearing impairment, Self-injurious behavi... ORPHA:457351
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Abnormal rep... ORPHA:572013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss... OMIM:615287
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... ORPHA:79330
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:617903
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Synophrys, Abnormal repetitive mannerisms, Broad-based gait OMIM:618067
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Abnormal pons morphology, Aggressive behavior ORPHA:85327
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Alkuraya-Kucinskas Syndrome
Posteriorly rotated ears, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypop... OMIM:617822
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Holoprosencephaly 14
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, H... OMIM:619895
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches, Kyphosis, Gray matter heterotopia, ... OMIM:300337
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... OMIM:618347
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Repetitive compulsi... ORPHA:66634
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Aqueductal stenosis, Macrotia, Abnormality of neuronal m... ORPHA:2065
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Disp... ORPHA:1727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Meningoencephaloc... OMIM:236670
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Generalized hyperpigmentation, Female external genitalia in individual... ORPHA:168558
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Clitoral hypoplasia, ... ORPHA:98793
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Hydrocephalus, Microtia, Low-set ears ORPHA:171839
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Short neck, Agenesis of corpus callosum, Attention deficit hyperact... OMIM:620073
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus ORPHA:93262
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Pain insensitivity, Aggressive behavior, Cryptorchidism, Babinski si... OMIM:300534
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Synophrys, Increased CSF la... OMIM:615824
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Low-set, posteriorly rot... ORPHA:2772
Joubert Syndrome 23
Dysplastic corpus callosum, Sensorineural hearing impairment, Cerebellar dysplasia OMIM:616490
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno... ORPHA:244
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, U... OMIM:212066
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Generalized hyperpigmentation, Female external genitalia in individual... ORPHA:289548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Clitoral hypoplasia, ... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonad... ORPHA:98754
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:300049
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus ORPHA:2635
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal helix morphology, ... ORPHA:401777
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:157
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Clitoral hypoplasia, ... ORPHA:177901
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Hydrocephalus, Low-set ears ORPHA:2180
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Ataxia, Spastic tetraplegia, Eyelid myoclonus, Opisthotonus OMIM:619913
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microt... ORPHA:90024
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Sparse eyebrow, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia,... ORPHA:496641
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Communicating hydrocephalus ORPHA:1861
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... OMIM:607485
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Kyphosis, Sensorineural hearing impairment, Optic atrophy, A... ORPHA:192
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Hypospadias, Involuntary movements, Abnormal eating behavi... ORPHA:209905
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Protruding ear, Bilateral breast hyp... ORPHA:69085
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Cryptorchidism, Spina bifida occulta, He... OMIM:193700
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ... ORPHA:233
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Highly arched eyebrow, Hearing impairment OMIM:620157
Fanconi Anemia
Aganglionic megacolon, Spina bifida, External ear malformation, Hearing abnormality, Hydrocephalu... ORPHA:84
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Cloacal Exstrophy
Myelomeningocele, Hemivertebrae, Spina bifida ORPHA:93929
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Abnormal location of the eyebrow, Repetitive compulsive behavior, Chorea, Widow's peak, S... ORPHA:522077
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h... ORPHA:2221
Smith-Magenis Syndrome
Impaired pain sensation, Precocious puberty, Synophrys, Self-injurious behavior, Gait disturbance... ORPHA:819
Argininemia
Cerebellar atrophy, Hyperactivity, Anorexia, Progressive spastic quadriplegia, Spastic paraparesi... OMIM:207800
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Periventricular Nodular Heterotopia 7
Optic disc pallor, Sensorineural hearing impairment, Gray matter heterotopia, Periventricular nod... OMIM:617201
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Abnormal location of ears, Ventriculomegaly OMIM:218350
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, P... OMIM:615802
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Impaired pain sensation, Hypoplastic toenails, Toenail dys... OMIM:606232
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular he... OMIM:618273
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Small scrotum, External genital hypoplasi... ORPHA:398069
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Scoliosis, Spinal dysraphism OMIM:612918
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:608747
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Attention deficit... ORPHA:1001
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Spina bifida, Short neck, Kyphoscoliosis, Wide anterior fontanel, Hydro... OMIM:304120
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abn... OMIM:615656
Mucopolysaccharidosis Type 3
Synophrys, Coarse hair, Otitis media, Thickened helices, Conductive hearing impairment, Chronic o... ORPHA:581
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Micropenis, Hypopigmentation of ... OMIM:176270
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Hypertoni... ORPHA:3214
Peters-Plus Syndrome
Hypoplasia of the vagina, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Protruding ear, ... OMIM:261540
Fg Syndrome Type 1
Sensorineural hearing impairment, Cupped ear, Hydrocephalus, Microtia, Frontal upsweep of hair, C... ORPHA:93932
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Hydrocephalus, Coarse hair... ORPHA:585
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Childhood Absence Epilepsy
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Abnormal hair pattern, Aggressive behavior, Tremor, Synophrys, Abnormal earlobe mo... ORPHA:85293
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Posteriorly rotated ears, Impulsivity, Supernumerary nipple, Periventricular heterotopia, Synophr... OMIM:618929
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Cryptorch... OMIM:617330
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Synophrys, Hydrocephalus, Colpocephaly, Low-set ears, Ventriculomegaly OMIM:620156
Fibular Hemimelia
Spina bifida ORPHA:93323
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Prominent crus of he... OMIM:619695
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Transketolase Deficiency
Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi... ORPHA:488618
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Low posterior hairline OMIM:220210
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of hair pigmentation, Low-set ears,... OMIM:618156
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Donnai-Barrow Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Widow's peak, Bicornuate uterus, Abno... ORPHA:2143
Kleefstra Syndrome 1
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Compulsiv... OMIM:610253
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility OMIM:300991
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Synophrys, Gait ataxia, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Trisomy 17P
Hydrocephalus, Low posterior hairline, Low-set ears, High anterior hairline, Generalized hirsutis... ORPHA:261290
Joubert Syndrome 14
Encephalocele, Posteriorly rotated ears, Highly arched eyebrow, Hydrocephalus, Meningocele, Low-s... OMIM:614424
Hogue-Janssen Syndrome 2
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly OMIM:616362
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnormal auditory evoked ... ORPHA:909
Pitt-Hopkins Syndrome
Incoordination, Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Cupped ear, Gait ataxia, ... OMIM:610954
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Posteriorly rotated ears, Slow-growing hair, Absent eyelashes, Hydroc... OMIM:115150
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Thick eyebrow, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk... OMIM:619229
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Conductive h... ORPHA:217085
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Sensorineural hearing impairment, Hydrocephalus, Umbilical hernia, Dandy-Wa... OMIM:612938
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... ORPHA:90794
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Thick eyebrow, Aggressive behavior, Synophrys, Hirsutism, Coarse hai... OMIM:252940
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Sensorineural hearing impairment, ... ORPHA:163746
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Conductive h... ORPHA:217093
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Pigmentary retinopathy... OMIM:612582
Sturge-Weber Syndrome
Hearing abnormality, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Heteroch... ORPHA:3205
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Tetrasomy 15Q26
Dandy-Walker malformation, Hydrocephalus, Cupped ear, Low-set ears OMIM:614846
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Fused cervical vertebrae, Syringomyelia, Cerebellar h... OMIM:274000
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Albers-Schönberg Osteopetrosis
Hydrocephalus, Hearing impairment ORPHA:53
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Self-injurious behavior, Microtia, Stereotypical body rocking, H... ORPHA:261323
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Temple Syndrome
Recurrent otitis media, Hydrocephalus, Posteriorly rotated ears OMIM:616222
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:133540
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, Periventricular heterotopia... ORPHA:261250
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Ocular albini... ORPHA:2719
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive ... OMIM:616364
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:228308
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Recurrent otitis media, Low-set ears, Dysphagia, Severe hearing ... ORPHA:96170
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Synophrys, Hydrocephalus, Low-set ears, Macrotia, Hypopigmentation of the skin,... OMIM:614969
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Ataxia, Protruding ear ORPHA:2479
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoplastic fifth toenail, Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Abno... ORPHA:457279
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Dysplastic corpus callosum, Abnormality of the outer ear, Protruding ear, Gray ma... OMIM:618820
Orofaciodigital Syndrome I
Dry hair, Alopecia, Abnormal cortical gyration, Hearing impairment, Myelomeningocele, Hydrocephal... OMIM:311200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Ventriculomegaly, Self-biting OMIM:618314
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Low-set ears ORPHA:79332
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Spotty hypopigmentation,... ORPHA:401973
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Synophrys, Protruding ear, Hypertonia... ORPHA:447997
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... ORPHA:268810
Fanconi Anemia, Complementation Group L
Anotia, Microtia, Attention deficit hyperactivity disorder, Low-set ears, Aplasia of the uterus, ... OMIM:614083
Bainbridge-Ropers Syndrome
Thick eyebrow, Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Precocious ... OMIM:615485
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Basal Cell Nevus Syndrome 2
Vertigo, Hydrocephalus OMIM:620343
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Coach Syndrome 2
Hydrocephalus OMIM:619111
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Hydrocephalus, Low-set ear... OMIM:619951
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Low-set ears OMIM:300863
Hydrolethalus
Low-set, posteriorly rotated ears, Hydrocephalus, Anencephaly, Low-set ears ORPHA:2189
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Small scrotum, External genital hypoplasi... ORPHA:739
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Acromelic Frontonasal Dysostosis
Encephalocele, Optic nerve hypoplasia, Retrocerebellar cyst, Gray matter heterotopia, Periventric... OMIM:603671
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Hyperconvex nail, Highly arched eyebrow, Sensorineural hearing impairme... OMIM:239300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Hearing impairment ORPHA:77298
Congenital Sialidosis Type 2
Hydrocephalus, Low-set ears, Generalized hypertrichosis, Umbilical hernia, Hearing impairment ORPHA:93400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Addictive alcohol use, Increased CSF lactate ORPHA:90065
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Nephronophthisis 18
Hydrocephalus OMIM:615862
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Hydrocephalus, Aplastic/hypoplastic toenail, Fine hair, L... ORPHA:1812
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic... ORPHA:235
Triploidy
Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Clonus, Synophrys, Protruding ear, Abnormality of skin pigmentation, Hypertonia, T... OMIM:619475
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitora... ORPHA:709
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Hypertonia, Iris hypopigme... ORPHA:79477
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hypoplasia of t... ORPHA:468678
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Abnormal scrotal rugation, Cryptorchidism, Spasticity, Gonadal dysgenesis,... ORPHA:284339
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Self-injurious behavior, Gray matter he... ORPHA:314679
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Clitoral hypertrophy, Posteriorly rotated ears, Abnormal pinna morph... OMIM:135900
Beckwith-Wiedemann Syndrome
Otosclerosis, Large placenta, Wide anterior fontanel, Abnormal earlobe morphology, Melanocytic ne... ORPHA:116
Norrie Disease
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea... ORPHA:649
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, Hearing impairment OMIM:272200
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hydrocephalus, Meningocele, Coa... OMIM:130720
Joubert Syndrome 1
Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hyperactiv... OMIM:213300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Sparse eyelashes, Hydrocephalus, Cupped ear, Low posterior hairlin... OMIM:612863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Brittle hair, Generalized hyperpigmentation, Slow-growing hair... ORPHA:1340
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hearing abnormality, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Melanocytic nevus, Thicke... ORPHA:1555
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Low-set ears, Recurrent otitis media, Macrotia, Dandy-Walker mal... OMIM:609029
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Pain insensitivity, Hyperactivity, Nail dystrophy, Nail dysplasia, Self-mutila... OMIM:256800
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Macrotia, Sparse lateral eyebrow OMIM:619694
Vici Syndrome
Hypopigmentation of hair, Cerebellar vermis hypoplasia, Albinism, Sensorineural hearing impairmen... OMIM:242840
Bohring-Opitz Syndrome
Sacral dimple, Posteriorly rotated ears, Thick hair, Supernumerary nipple, Delayed peripheral mye... OMIM:605039
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:2169
Achondroplasia
Wide anterior fontanel, Functional abnormality of the middle ear, Hydrocephalus, Hearing impairment ORPHA:15
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Hydrocephalus, Hearing impairment OMIM:601499
Trisomy 1Q
Hypoplastic toenails, Hydrocephalus, Low-set ears, Abnormality of the outer ear, Ventriculomegaly... ORPHA:261344
Tetrasomy 18P
Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Scoliosis ORPHA:3307
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Van Maldergem Syndrome 1
Sacral dimple, Wide anterior fontanel, Sensorineural hearing impairment, Subcortical band heterot... OMIM:601390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Hydrocephalus OMIM:615249
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Impulsivity, Protruding ear, Microtia, Attention deficit hyper... OMIM:301030
Kleefstra Syndrome
Highly arched eyebrow, Aggressive behavior, Supernumerary nipple, Chronic otitis media, Synophrys... ORPHA:261494
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Gorlin Syndrome
Hydrocephalus, Melanocytic nevus ORPHA:377
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Hydrocephalus, Abnormality of the hairline OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Synophrys, Self-injurious behavior, Low-set ears, Attention d... OMIM:616078
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Branchial anomaly, Syringomyelia, Vertebral segmentation defect, Abnorma... ORPHA:453499
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Male infertility OMIM:612444
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
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Cerebral Visual Impairment
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus ORPHA:1237
Van Maldergem Syndrome 2
Sacral dimple, Periventricular nodular heterotopia, Wide anterior fontanel, Sensorineural hearing... OMIM:615546
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Low-set ears ORPHA:163966
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Tetrasomy 5P
Posteriorly rotated ears, Wide anterior fontanel, Hydrocephalus, Depigmentation/hyperpigmentation... ORPHA:3309
Li-Ghorbani-Weisz-Hubshman Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Hydrocephalus, Dys... ORPHA:637
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:220497
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Hirsutism ORPHA:1865
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Vertigo, Disinhibition, Holoprose... ORPHA:2356
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Synophrys, Low anterior hairline, Coarse hair, Conductive hearing i... OMIM:612289
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Distal Triplication 15Q
Sensorineural hearing impairment, Cupped ear, Hydrocephalus, Microtia, Abnormal helix morphology,... ORPHA:314588
Cousin Syndrome
Posteriorly rotated ears, Hydrocephalus, Low anterior hairline, Low-set ears, Facial hirsutism, H... OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Microlissencep... OMIM:210710
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, Short neck, Periventricular heterotopia... ORPHA:75857
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Hypermelanotic macule, Ventriculomegaly ORPHA:60040
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hydrocephalus, Highly arched eye... OMIM:620155
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Legius Syndrome
Hyperactivity, Inguinal freckling, Axillary freckling, Vestibular schwannoma, Attention deficit h... ORPHA:137605
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Hearing impairment, Perisylvian predominant thick cortex pachygyria... ORPHA:98889
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hypothalamic hamartoma, Low-set ears, Con... OMIM:277170
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hearing impairment, Hydrocephalus, Recurrent otitis media, U... OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Dilated th... OMIM:613154
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Impaired pain sensation, Cryptorchidism, Long eyelashes, Attention deficit... OMIM:619005
Adams-Oliver Syndrome
Encephalocele, Alopecia, Hydrocephalus, Aplastic/hypoplastic toenail, Absent fingernail, Sparse h... ORPHA:974
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Posteriorly rotated ears, Brushfield spots, Wide anterior fontanel, Sensorineu... OMIM:214100
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Optic atro... OMIM:243910
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Vertebral segmentation defect, Atresia of the external auditor... ORPHA:3186
Coffin-Siris Syndrome 12
Synophrys, Low anterior hairline, Protruding ear, Abnormal repetitive mannerisms, Simple ear, Fac... OMIM:619325
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Treacher-Collins Syndrome
Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Blepharospasm, Microtia, Condu... ORPHA:861
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly, Thick eyebrow, Hypertrichosis OMIM:616260
Monosomy 9Q22.3
Hyperactivity, Hydrocephalus, Low-set ears, Umbilical hernia, Thickened ears, Ventriculomegaly ORPHA:77301
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the uterus ORPHA:3320
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Abnormal vertebr... OMIM:192350
Dural Sinus Malformation
Myelopathy, Ear pain, Hydrocephalus, Pulsatile tinnitus ORPHA:97339
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Sensorineural hearing impairment, Hydrocephalus, Coarse hair, Recurrent otitis med... OMIM:253220
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Atresia of the external auditory canal OMIM:123500
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Neuromuscular Oculoauditory Syndrome
Posteriorly rotated ears, Periventricular heterotopia, Decreased nerve conduction velocity, Retin... OMIM:618733
Whipple Disease
Polydipsia, Generalized hyperpigmentation, Hydrocephalus, Anorexia ORPHA:3452
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Sparse eyelashes, Posteriorly rotated ears, Sparse eyebrow, Hydr... OMIM:605627
Koolen-De Vries Syndrome
Vertebral fusion, Hyperactivity, Sacral dimple, Impulsivity, Abnormality of hair texture, Antever... OMIM:610443
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Periventricular h... OMIM:614105
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:220493
Lowry-Maclean Syndrome
Hydrocephalus, Low-set ears, Generalized hypertrichosis ORPHA:2409
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Posteriorly rotated ears, Kyphoscoliosis, Short neck, Large placenta, Wide anterior fontanel, Hem... ORPHA:96334
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Vertigo, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Posteriorly rotated ears, Low-set ears, Hypertrichosis OMIM:618590
Mend Syndrome
Hyperactivity, Posteriorly rotated ears, Hydrocephalus, Spotty hypopigmentation, Low-set ears, Ov... OMIM:300960
1Q44 Microdeletion Syndrome
Synophrys, Hydrocephalus, Ventriculomegaly ORPHA:238769
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Hyperactivity, Sparse scalp hair, Posteriorly rotated ears, Loose anagen hair, Long e... OMIM:607721
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Long eyelashes, Low-set ears, Dysphagia, Congenita... ORPHA:319182
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Hydrocephalus, Anotia, Microtia, Atresia of the external auditory canal, He... ORPHA:268249
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Hydrocephalus, Ventriculomegaly ORPHA:59315
Peho Syndrome
External ear malformation, Hydrocephalus, Macrotia, Ventriculomegaly ORPHA:2836
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Male infertility, Immotile sperm OMIM:614874
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Wide anterior fontanel, Hydrocephalus, Hearing impairment OMIM:616482
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Highly arched eyebrow, Abnormali... ORPHA:2754
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Generalized hypertrichosis, Dysphagia, Hypsarrh... ORPHA:798
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, External g... ORPHA:177907
Nmda Receptor Encephalitis
Ovarian teratoma, Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, C... ORPHA:217253
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Otitis media, Immotile sperm OMIM:613807
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Hearing impairment OMIM:259700
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu... ORPHA:99413
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Periventricular ... OMIM:615948
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu... ORPHA:881
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism OMIM:224400
1Q21.1 Microdeletion Syndrome
Sensorineural hearing impairment, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250989
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Aplasia of the uterus, Progressive sensorineural hearing impair... ORPHA:2237
Fanconi Anemia, Complementation Group B
Overfolded helix, Hydrocephalus, Low-set ears, Ventriculomegaly OMIM:300514
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Hydrocephalus, Hearing impairment ORPHA:220295
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... ORPHA:2970
Mucopolysaccharidosis Type 1
Sensorineural hearing impairment, Hydrocephalus, Low anterior hairline, Chronic otitis media, Gen... ORPHA:579
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hearing impairment, Hydrocephalus, Hyperpigmentation of th... ORPHA:168569
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Protruding ear, Aplasia of the uterus, Nail dysplasia ORPHA:2879
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Sensorineural hearing impairment, Protruding ear, G... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Sensorineural hearing impairment, Protruding ear, G... ORPHA:352665
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hyperlordosis, Periventricular heterotopia, Coronal cleft vertebrae, Scoliosis, Attention deficit... OMIM:618870
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus, Absent nipple, Low-set ears OMIM:104350
Proteus-Like Syndrome
Communicating hydrocephalus, Irregular hyperpigmentation, Heterochromia iridis, Hydrocephalus ORPHA:2969
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Atresia of the external auditory canal, Low-set ears ORPHA:93259
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Stenosis of the external auditory canal, Abnormal pinna morphology, Hydro... OMIM:207410
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Abnormality of skin pigmentation, Attention deficit hyperactivity disorder, Low-se... OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Protruding ear OMIM:612940
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism... OMIM:194190
Chediak-Higashi Syndrome
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in... OMIM:214500
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Protruding ear, Overfolded helix, Ventricu... ORPHA:96169
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sensorineural hearing impairment, Brittle hair OMIM:616084
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Synophrys, Low-set ears, Attention deficit hyperactivity... OMIM:614294
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Hyperlordosis, Wide anterior fontanel, Gray matter heterotopia, Dysphagia ORPHA:26791
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Posteriorly rotated ears, Hypoplastic toenails, Abnormality of neuronal migration, Low-set ears, ... OMIM:608836
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Heari... ORPHA:636
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Spastici... OMIM:301040
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Low-set ears ORPHA:2268
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Holoprosencephaly, Low-set ears OMIM:264480
Craniopharyngioma
Vertigo, Polyphagia, Hydrocephalus, Hearing impairment ORPHA:54595
Genitopalatocardiac Syndrome
Hydrocephalus, Low-set ears ORPHA:2075
Developmental And Epileptic Encephalopathy 100
Chorea, Synophrys, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive manner... OMIM:619777
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hypoplastic toenails, Hydrocephalus, Protruding ear, Low posterior hairline, A... ORPHA:261337
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Vertebral segmentation defect, Syringomyelia, Scoliosis ORPHA:531151
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Low-set ears OMIM:619879
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Microtia ORPHA:1834
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Long eyelashes, Bruxi... ORPHA:48652
Hurler Syndrome
Hydrocephalus, Recurrent otitis media, Umbilical hernia, Hirsutism, Hearing impairment OMIM:607014
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Dysphagia, Hyperpigmented nevi ORPHA:58
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Communicating hydrocephalus, Chronic otitis media OMIM:244400
Aymé-Gripp Syndrome
Sparse scalp hair, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Mic... ORPHA:1272
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Myoclonus OMIM:300672
Congenital Ptosis
Cafe-au-lait spot, Premature ovarian insufficiency, Piebaldism, Long eyelashes ORPHA:91411
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Low-set ears, Occipital meningocele, Ventriculomegaly OMIM:616546
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation ORPHA:90354
Monosomy 18Q
Hydrocephalus, Sensorineural hearing impairment, Low anterior hairline, Bilateral conductive hear... ORPHA:1600
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigment... ORPHA:167
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... ORPHA:805
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo... ORPHA:369837
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Hurler Syndrome
Hydrocephalus, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing im... ORPHA:93473
Shprintzen-Goldberg Craniosynostosis Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Wide anterior fontanel, Hydrocephalus, Low-s... OMIM:182212
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa... OMIM:620024
Marshall-Smith Syndrome
Thick eyebrow, Brittle hair, Ventriculomegaly, Highly arched eyebrow, Synophrys, Hydrocephalus, H... OMIM:602535
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal pinna morphology, Myelomeningocele, Hydrocephalus, Low-set ears, Hearing ... ORPHA:90652
Kinsship Syndrome
Ventriculomegaly, Synophrys, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Dandy-Walker ... OMIM:619297
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Decrea... ORPHA:3138
Beare-Stevenson Cutis Gyrata Syndrome
Posteriorly rotated ears, Hydrocephalus, Atresia of the external auditory canal, Small nail, Vent... OMIM:123790
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal repetitive mannerisms, Kyphosis, Abnormality of neuronal migration, P... ORPHA:464311
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stil... OMIM:236680
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Gray matter heterotopia, Long eyelashes, Low-set ears, Thickened helice... OMIM:608624
Desmosterolosis
Posteriorly rotated ears, Hydrocephalus, Cupped ear, Low-set ears, Ventriculomegaly OMIM:602398
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Low-set ears OMIM:608091
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Microtia, Ventriculomegaly, Low-set ears OMIM:613603
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Cupped ear, Poor coordinati... OMIM:309590
Functioning Gonadotropic Adenoma
Hydrocephalus, Abnormality of secondary sexual hair ORPHA:91348
Hajdu-Cheney Syndrome
Thick eyebrow, Short nail, Synophrys, Hydrocephalus, Large earlobe, Long eyelashes, Low-set ears,... OMIM:102500
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Gray matter heterotopia, Horizontal eyebrow, Low-set ears, High anterior h... OMIM:618797
Medulloblastoma
Hydrocephalus, Vertigo, Bilateral sensorineural hearing impairment ORPHA:616
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hydrocepha... ORPHA:314585
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me... OMIM:203300
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Anorexia, Ocular albinism, Melanocy... ORPHA:79430
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Hyperactivity, Sacral dimple, Aganglionic megacolon, Posteriorly rotated ears... OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Nail-biting, Pain insensitivity, Small scrotum, Posteriorly rotated ears,... OMIM:620330
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Blue irides, Hydrocephalus, Hearing impairment OMIM:101800
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Osteootohepatoenteric Syndrome
Hydrocephalus, Hearing impairment OMIM:619377
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Microtia ORPHA:3301
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched eyeb... OMIM:259775
Lhermitte-Duclos Disease
Trichilemmoma, Hydrocephalus ORPHA:65285
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Posteriorly rotated ears, Hydrocephalus, Anencephaly, Holoprosencephal... OMIM:269860
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Alg11-Cdg
Gray matter heterotopia, Scoliosis, Hearing impairment ORPHA:280071
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Male infertility OMIM:614935
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Abnormality of skin pigmentatio... OMIM:227650
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Sensorineural hearing impairment, Hydrocephalus, Thick eyebrow OMIM:616007
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormality of the uterus, Low-set ears, Abnormal fallopian tube morphology, Micr... ORPHA:1655
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Floating-Harbor Syndrome
Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-... ORPHA:2044
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Micropenis, Low-set ears, Difficulty... OMIM:618653
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Low anterior hairline, Scoliosis, Ove... OMIM:301044
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Melanocytic nevus OMIM:616914
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy, Umbilical hernia, Hirsutism, Hearing impairment OMIM:253200
Achondroplasia
Conductive hearing impairment, Hydrocephalus, Recurrent otitis media OMIM:100800
Kabuki Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, Hydrocephalus, Protruding ear, Long eyel... ORPHA:2322
Primrose Syndrome
Restlessness, Sparse scalp hair, Calcification of the auricular cartilage, Ataxia, Absent facial ... OMIM:259050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Unsteady gait, Nail dysplasia, Sparse hair, Loss of ambulatio... OMIM:616682
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dandy-Walker malformation OMIM:257300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Posteriorly rotated ears, Aggressive behavior, Synophrys, Recurrent... OMIM:301066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Low posterior hairline, Microtia, Low-set ears, Prominent antitragus, Thick eyebrow OMIM:245600
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, O... OMIM:610828
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Mohr Syndrome
Conductive hearing impairment, Hydrocephalus OMIM:252100
Chromosome 1P36 Deletion Syndrome, Distal
Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Aggressive behavior, Abnormal... OMIM:607872
Periventricular Nodular Heterotopia
Scoliosis, Periventricular heterotopia ORPHA:98892
Fraser Syndrome 3
Hydrocephalus, Low-set ears, Simple ear OMIM:617667
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Hydrocephalus, Macrotia, Low-set ears OMIM:277400
Nijmegen Breakage Syndrome
Abnormal hair quantity, Short neck, Abnormal hair morphology, Hearing abnormality, Low anterior h... ORPHA:647
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Uplifted earlobe, Aggressive behavior, Sparse eye... OMIM:619841
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Low-set ears, Ventriculomegaly OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ear, Bruxism, Dys... OMIM:615873
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism... ORPHA:672
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias,... ORPHA:1606
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Synophrys, Hydrocephalus, Low anterior hairline, Coarse hair, Low... ORPHA:955
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:619607
Neurooculorenal Syndrome
Mixed hearing impairment, Highly arched eyebrow, Aqueductal stenosis, Hydrocephalus, Sensorineura... OMIM:620305
Congenital Myopathy 22A, Classic
Synophrys, Normal pressure hydrocephalus OMIM:620351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Pachygyria, Polymicrog... OMIM:253280
Periventricular Nodular Heterotopia 9
Posteriorly rotated ears, Periventricular nodular heterotopia, Synophrys, Gray matter heterotopia... OMIM:618918
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the cervical spine, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear... ORPHA:353281
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Hypospadias, Cryptorchidism, Protruding ear, Gait disturbance, Micropenis, Macroti... ORPHA:464306
Dextrocardia
Hydrocephalus, Aplasia/Hypoplasia of the ear ORPHA:1666
Hand-Foot-Genital Syndrome
Hypospadias, Microtia, Bicornuate uterus, Abnormality of the uterus, Hypoplastic fifth toenail ORPHA:2438
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Posteriorly rotated ears, Abnormality of neuronal migration ORPHA:2063
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia ORPHA:2166
Costello Syndrome
Deep-set nails, Curly hair, Ventriculomegaly, Posteriorly rotated ears, Thin nail, Concave nail, ... OMIM:218040
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Protruding ear, Low-set ears, Conductive h... ORPHA:2462
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Myelomeningocele, Cup... OMIM:219000
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Highly arched eyebrow, Hydrocephalus, Mild ... ORPHA:221120
Trisomy 8P
Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the tragus, Low posterior hairline... ORPHA:264450
Arboleda-Tham Syndrome
Dystonia, Posteriorly rotated ears, Highly arched eyebrow, Anteverted ears, Bilateral cryptorchid... OMIM:616268
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Absent lowe... OMIM:154400
Focal Dermal Hypoplasia
Ridged nail, Mixed hearing impairment, Brittle hair, Linear hyperpigmentation, Supernumerary nipp... OMIM:305600
Marden-Walker Syndrome
Attention deficit hyperactivity disorder, Posteriorly rotated ears, Hydrocephalus, Low-set ears ORPHA:2461
Knobloch Syndrome
Abnormal hair morphology, Occipital encephalocele, Hydrocephalus ORPHA:1571
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Cornelia De Lange Syndrome
Hypoplasia of penis, Synophrys, Low anterior hairline, Hypertonia, Abnormality of the uterus, Com... ORPHA:199
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Synophrys, Hydrocephalus, Anonychia, Conductive hearing... ORPHA:3042
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Hydrocephalus, Microtia, Low-set ears, Conductive hearing impairment, O... OMIM:300373
Thakker-Donnai Syndrome
Communicating hydrocephalus, Macrotia, Posteriorly rotated ears ORPHA:1780
Hypoplasminogenemia
Abnormality of the middle ear, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, Chiari type I malformation, Compulsive behaviors, Cer... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, Chiari type I malformation, Compulsive behaviors, Cer... ORPHA:353277
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Macrotia, Ve... OMIM:617011
Semilobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Neural tube defect, Attention deficit hyperactiv... ORPHA:220386
Alobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Neural tube defect, Attention deficit hyperactiv... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Neural tube defect, Attention deficit hyperactiv... ORPHA:93926
Lobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Neural tube defect, Attention deficit hyperactiv... ORPHA:93924
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Jacobsen Syndrome
Abnormal eyelash morphology, Hydrocephalus, Holoprosencephaly, Low-set ears OMIM:147791
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Pain insensitivity, Somatic sensory dysfunction, Impulsivity, Impaire... ORPHA:642
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Hypospadias, Hypoplastic toenails, Crypto... OMIM:619522
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Hypopigmen... ORPHA:201
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of... OMIM:619488
Apert Syndrome
Chronic otitis media, Hydrocephalus, Ventriculomegaly, Hearing impairment OMIM:101200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis, Infantile sensorineural hearing impairment ORPHA:268943
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thick hair, Hydrocephalus, Long eyelashes, Hypertrichosis ORPHA:505248
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly, Low-set ears OMIM:618188
Pallister-Killian Syndrome
Small scrotum, Hyperpigmented streaks, Hypopigmented streaks, Hypertonia, Sparse hair, Hypopigmen... OMIM:601803
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,... ORPHA:125
Stromme Syndrome
Hydrocephalus, Low-set ears OMIM:243605
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Posteriorly rotated ears, Gray matter heterotopia, Lissencephaly, Low-set ears, Pa... OMIM:247200
Mismatch Repair Cancer Syndrome 1
Axillary freckling, Agenesis of corpus callosum, Gray matter heterotopia, Plexiform neurofibroma,... OMIM:276300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal pinna morphology, Wide anterior fontanel, Hydrocephalus, Abnormal earlobe morphology, Ab... ORPHA:95699
Kabuki Syndrome 1
Posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Hydrocephalus, Prominent eyelash... OMIM:147920
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hydrocephalus, Abnormality of t... ORPHA:2556
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Anteriorly displaced genit... OMIM:276820
Mirage Syndrome
Hydrocephalus OMIM:617053
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Abnormality of hair texture, Otitis media, Hearing impairment ORPHA:667
Gaucher Disease
Hydrocephalus, Abnormality of skin pigmentation, Dysphagia, Ventriculomegaly, Hearing impairment ORPHA:355
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Macrotia ORPHA:168577
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... ORPHA:228123
Osteogenesis Imperfecta
Mixed hearing impairment, Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression fract... ORPHA:666
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Shawl sc... ORPHA:1974
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Sparse scalp hair, Protruding ear, Fine hair, Self-injurious b... ORPHA:534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Hydrocephalus, Low-set ears ORPHA:536467
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Posteriorly rotated ears, Sparse eyelashes, Dandy-Wa... OMIM:264090
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Microtia, Posteriorly rotated ears, Aplasia/Hypoplasia of the nails ORPHA:163979
Histidinemia
Hyperactivity ORPHA:2157
Meckel Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencep... ORPHA:564
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Sensorineural hearing impairment, Hydrocephalus, Abnormal temper tantrums, Ventriculomegaly ORPHA:2072
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Genera... ORPHA:744
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix OMIM:617466
Ogden Syndrome
Short neck, Sparse eyebrow, Wide anterior fontanel, Fine hair, Protruding ear, Long eyelashes, Lo... OMIM:300855
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Low-set ears ORPHA:2470
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Axillary freckling, Hydrocephalus, Protruding ear, Attention deficit hyperact... ORPHA:363700
Tetrasomy 9P
Hyperactivity, Glue ear, Pilomatrixoma, Hydrocephalus, Abnormal earlobe morphology, Inappropriate... ORPHA:3310
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Hydrocephalus, Low-set ears ORPHA:79282
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mixed hearing impairment, Highly arched eyebrow, Sensorineural heari... ORPHA:309282
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Hydrocephalu... OMIM:249000
Holoprosencephaly 9
Hydrocephalus, Prominent antihelix, Holoprosencephaly, Macrotia, Underdeveloped tragus OMIM:610829
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial... OMIM:219800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Ventriculomegaly, Sparse eyebrow,... ORPHA:457359
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic toenails, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Low-set ears OMIM:306955
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Low-set ears OMIM:617563
Acrofacial Dysostosis, Rodríguez Type
Microtia, Abnormality of the uterus ORPHA:1788
Cryptococcosis
Hydrocephalus, Abnormality of the outer ear ORPHA:1546
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Lenz-Majewski Hyperostotic Dwarfism
Hyperconvex fingernails, Hydrocephalus, Macrotia, Hypoplastic fingernail ORPHA:2658
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Frontal balding, Tremor, Sensorineural hearing impairment, Synophrys, Prot... OMIM:612474
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Large earlobe, Hydrocephalus, Abnormal eyebrow morphology ORPHA:1106
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Low posterior ha... OMIM:163950
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Aganglionic megacolon, Posteriorly r... ORPHA:261537
Yunis-Varon Syndrome
Sparse scalp hair, Abnormal pinna morphology, Sparse eyelashes, Hearing impairment, Sparse eyebro... ORPHA:3472
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Ungual fibroma, Hydrocephalus ORPHA:538
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Alopecia, Hydrocephalus OMIM:619321
Meningioma
Ear pain, Hydrocephalus, Tinnitus ORPHA:2495
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Uplifted earlobe, Chiari type I malformation, Abnormal repetitive m... ORPHA:261552
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Conductive hearing impairment, Webbed penis, Micropenis, Abnorma... ORPHA:2152
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Wide anterior fontanel, Hydrocephalus, Low-se... OMIM:218600
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Hydrocephalus, Short umbilical cord, Small placenta, Low-set ears OMIM:208150
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Sensorineural hearing impairment, Hydrocephalus, Microtia, S... OMIM:107480
Tetraamelia Syndrome 1
Hydrocephalus, Low-set ears OMIM:273395
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Low-set, posteriorly rotated ears, Short neck, Periventricular heteroto... ORPHA:434179
Myhre Syndrome
Vertebral fusion, Short neck, Fine hair, Enlarged vertebral pedicles, Microtia, Platyspondyly, Lo... OMIM:139210
Genitopatellar Syndrome
Sparse scalp hair, Periventricular heterotopia, Colpocephaly, Scoliosis, Dysphagia, Pachygyria, A... OMIM:606170
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Posteriorly rotated ears, Hearing abnormality, Synophrys, Hydrocephalus, Abnor... ORPHA:3455
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Simpson-Golabi-Behmel Syndrome, Type 1
Short nail, Hearing impairment, Supernumerary nipple, Hydrocephalus, Anterior creases of earlobe,... OMIM:312870
Craniofacial Microsomia 1
Occipital encephalocele, Sensorineural hearing impairment, Hydrocephalus, Branchial anomaly, Anot... OMIM:164210
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Ventriculomegaly, Aggressive behavior OMIM:309000
Roberts-Sc Phocomelia Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Low-se... OMIM:268300
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, External ear malformation... ORPHA:857
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Protruding ear, Lateral ventricle dilatation, Low-set ears, H... OMIM:619534
Loeys-Dietz Syndrome 2
Umbilical hernia, Hydrocephalus OMIM:610168
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

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 Lmx1a

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 Lmx1a.

No publications found that use IMPC mice or data for Lmx1a.

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
Lmx1atm40056(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lmx1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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