Gene Summary

Name:
inositol 1,4,5-triphosphate receptor 3
Synonyms:
Itpr-3,  Ip3r3,  tf

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Itpr3em1(IMPC)Mbp HOM Early adult 9.41×10-05
abnormal skin morphology Itpr3em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Itpr3em1(IMPC)Mbp HOM Early adult 1.27×10-05
corneal opacity Itpr3em1(IMPC)Mbp HOM Early adult 8.80×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

49 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Itpr3 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 Itpr3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100

The table below shows human diseases predicted to be associated to Itpr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Hypoplasia of the brainstem, Aggressive behavior, Absent septum pellucidum, Hy... OMIM:618492
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:611603
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Cerebral cortical atrophy, Spastic gait, Aplasia/Hypoplasia of the cerebellar... ORPHA:401820
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callosum, Polymicrogy... OMIM:604213
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Pachygyria, Inappropriate crying, Diff... ORPHA:561854
Gaba-Transaminase Deficiency
Lethargy, Cerebellar hypoplasia, Agenesis of corpus callosum, Tall stature OMIM:613163
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Masa Syndrome
Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Immunodeficiency 8
Hyperactivity OMIM:615401
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Cerebral atrophy, Failure to thrive, Hyperactivity, Microcephaly, Agenesis of corpus ca... OMIM:274270
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Postnat... ORPHA:300570
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Poor eye contact, Ataxia, Dysplastic corpus callosum, Failure to thr... OMIM:618276
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Decreased body weight, Simplified gyral pattern OMIM:616681
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Failure to thrive, Simplified gyral pattern, ... OMIM:617090
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Partial agenesis of the corpus callosum OMIM:233810
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Hypoplasia of the brainstem, Dystonia, Cerebellar hypoplasia, Simplif... OMIM:619301
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Poor eye contact OMIM:612948
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Pontocerebellar Hypoplasia, Type 15
Delayed social development, Hypoplasia of the brainstem, Dystonia, Cerebellar hypoplasia, Simplif... OMIM:619302
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Generalized dystonia, Partial agenesis of the corpus callosum OMIM:619025
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the c... ORPHA:85179
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Failure to thrive OMIM:211200
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:616051
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Frontotemporal cerebral atrophy... ORPHA:412066
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Morquio Syndrome C
Corneal opacity OMIM:252300
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the... OMIM:617669
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia cysts, Episodic ataxia, Lethargy, Cerebral atrophy, Small for gestational... OMIM:312170
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Agenesis of corpus callosum, Dysmetria OMIM:610245
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Galactosialidosis
Corneal opacity ORPHA:351
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Inferior vermis hypoplasia, Partial agenesis of the corpus callosum, Hy... OMIM:618959
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Mental Retardation, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Failure to thrive, Hyperactivity, Microcephaly, Agenesis of corpus callosum,... OMIM:615286
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Large for gestational age OMIM:102150
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity ORPHA:85274
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Winchester Syndrome
Corneal opacity OMIM:277950
Masa Syndrome
Microcephaly, Agenesis of corpus callosum, Shuffling gait OMIM:303350
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Failure to thrive, Sparse hair, Alopecia OMIM:616353
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Cerebellar vermis hypoplasia, Unsteady gait, Dysmetria, Ag... ORPHA:453521
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia OMIM:304900
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
Imagawa-Matsumoto Syndrome
Birth length greater than 97th percentile, Tall stature, Overgrowth, Polymicrogyria, Agenesis of ... OMIM:618786
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Dysplastic corpus callosum OMIM:613162
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Agenesis of corpus callosum, Failure to thrive OMIM:618238
Aredyld
Generalized hypotrichosis OMIM:207780
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis, Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair,... OMIM:129490
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Dystonia, Agenesis of corpus callosum, Ataxia OMIM:250620
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Sparse axillary hair, Nail dysplasia, Sparse scalp ha... OMIM:257960
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity OMIM:248100
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:262767
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Moynahan Syndrome
Cachexia, Sparse hair, Alopecia ORPHA:2574
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Oliver-Mcfarlane Syndrome
Sparse hair, Long eyelashes, Small for gestational age, Alopecia, Long eyebrows OMIM:275400
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Parietal cortical atrophy, Agenesis of corpus callosum, Frontal cortical atrophy OMIM:618766
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Warburg Micro Syndrome 1
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hyp... OMIM:600118
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Decreased body weight, Sparse and thin eyebrow, Al... ORPHA:2985
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus c... OMIM:304100
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Schopf-Schulz-Passarge Syndrome
Small nail, Sparse hair, Poroma, Onycholysis, Ridged nail, Apocrine hidrocystoma, Thin nail, Narr... OMIM:224750
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Microcephaly, Amish Type
Irritability, Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:607196
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Akinesia, Agenesis of cerebellar vermis, Microlissencephaly, Agenesi... OMIM:601160
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Teratoma, Pineal
Polydipsia OMIM:273120
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus c... ORPHA:1528
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Truncal obesity, Failure to thrive ORPHA:261483
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Obesity ORPHA:166024
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Obesity... OMIM:616756
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Dysmetria, Failure to thrive, Microcephaly, Agenesis of... OMIM:617988
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Ataxia, Unsteady gait, Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Red hair, Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Red hair, Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Microhydranencephaly
Self-mutilation, Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly,... OMIM:605013
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Combined Oxidative Phosphorylation Deficiency 15
Abnormal cerebral white matter morphology, Ataxia, Unsteady gait, Cognitive impairment, Microceph... OMIM:614947
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Hawkinsinuria
Fine hair, Sparse hair, Failure to thrive ORPHA:2118
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia, Red hair OMIM:609734
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Akinesia, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Agen... OMIM:225790
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Tall stature, Obesity OMIM:618406
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microc... OMIM:614833
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Sparse lateral eyebrow, Distichiasis ORPHA:79133
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia, Obesity ORPHA:177910
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar... OMIM:300864
Familial Cold Urticaria
Polydipsia, Hyperhidrosis ORPHA:47045
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Gait disturbance, Keratoglobus, Megalocornea, Flat corn... OMIM:614170
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Failure to thrive OMIM:214150
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Microcephaly, Cerebral h... ORPHA:168486
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Hyperostosis Frontalis Interna
Hypertrichosis, Obesity OMIM:144800
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Alopecia ORPHA:2251
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Failure to thrive, Microcephaly, Abnormal globus pallidus morp... OMIM:618603
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Small for gestational age, Brittle hair, Failure to thrive, Pili ca... OMIM:614602
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Failure to thrive, Decreased body weight, Partial agenesis of the corpus callosum OMIM:618346
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:616901
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Abnormal periventricular white matter morphology, Overweight, Difficulty walki... ORPHA:280763
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Nail dystrophy OMIM:618625
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis, Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypohidrosis, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Sotos Syndrome 3
Hyperactivity OMIM:617169
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Bardet-Biedl Syndrome 22
Microcephaly, Obesity OMIM:617119
Filippi Syndrome
Sparse hair, Hypertrichosis, Frontal hirsutism, Decreased body weight OMIM:272440
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Low posterior hairline, Absent facial hair, Obesity ORPHA:2183
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Sparse body ha... OMIM:613102
Dermoodontodysplasia
Trichodysplasia, Hypohidrosis, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse... ORPHA:1660
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Mucolipidosis Iv
Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, A... OMIM:616819
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum... OMIM:618736
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Disproportionate tall stature, Emotional labil... OMIM:309520
Mental Retardation, X-Linked 91
Low posterior hairline, Obesity OMIM:300577
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Nail dysplasia, Sparse scalp hair, Sparse body... ORPHA:1809
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Postnatal gr... ORPHA:391417
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
Olmsted Syndrome 1
Sparse hair, Nail dysplasia, Subungual hyperkeratosis, Hyperhidrosis, Alopecia universalis, Nail ... OMIM:614594
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphology, Cere... OMIM:618476
Mehmo Syndrome
Inability to walk, Gait ataxia, Aggressive behavior, Difficulty walking, Hypoplasia of the corpus... OMIM:300148
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypohidrosis, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Primary microcephaly, Microcephaly, Agenesis of corpus callosum, No... ORPHA:466688
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Ochoa Syndrome
Polydipsia ORPHA:2704
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia, Obesity OMIM:614962
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Agenesis of corpus callosum, Failure to thrive OMIM:610680
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Central Precocious Puberty
Overgrowth, Abnormality of secondary sexual hair, Increased body weight, Obesity ORPHA:759
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Hypohidrosis, Slow-growing hair, Sparse eyelashes OMIM:618535
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity ORPHA:329249
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly OMIM:614120
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Attention deficit hyperactivity disorder OMIM:615433
Cortisone Reductase Deficiency 1
Hirsutism, Obesity OMIM:604931
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Bazex Syndrome
Hypohidrosis, Sparse hair, Coarse hair, Trichoepithelioma, Trichorrhexis nodosa, Pili torti OMIM:301845
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Primary microce... ORPHA:500144
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Irritability, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Hyperconvex nail, Sparse axillary hair, Abnormality o... ORPHA:189
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Bradykinesia, Dysplastic corpus callosum, Leukoencep... OMIM:614924
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Synophrys, Obesity ORPHA:300305
Nephronophthisis 4
Polydipsia OMIM:606966
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact, Anxiety, Attention... ORPHA:444002
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Long eyelashes, Sparse scalp hair, Thick eyebrow, Hypertrichosis OMIM:614608
Rosselli-Gulienetti Syndrome
Hypohidrosis, Nail dysplasia, Sparse and thin eyebrow, Progressive hypotrichosis, Sparse eyelashes OMIM:225000
6Q25 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Failure to thrive ORPHA:251056
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Primary microcephaly, Cerebral ca... ORPHA:89844
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Microcep... OMIM:616212
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Failure to thrive OMIM:612940
Mental Retardation, Buenos Aires Type
Microcephaly, Spastic gait, Failure to thrive, Partial agenesis of the corpus callosum OMIM:249630
Craniosynostosis 6
Abnormal corpus callosum morphology, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malf... OMIM:616602
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Hypoplasia of the brainstem, Aggressive behavior, Global brain atrophy, Diffic... ORPHA:481152
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum ORPHA:380
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar hypoplasia, Anencephaly, Cortical ... OMIM:615287
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Sparse hair OMIM:613576
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia ORPHA:79402
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Polyphagia, Obesity ORPHA:411515
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Attention de... OMIM:613670
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, At... OMIM:618443
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Depression, Apathy, Subcortical cerebral atrophy, Cerebral cortical atr... ORPHA:96147
Alopecia Antibody Deficiency
Sparse body hair, Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Radio-Tartaglia Syndrome
Aggressive behavior, Gait imbalance, Poor eye contact, Ataxia, Impulsivity, Microcephaly, Agenesi... OMIM:619312
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Dysgenesis of the hippocampus, Ataxia, Agenesis of corpus callosum, Attentio... OMIM:619320
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Anhidrosis, Sparse hair OMIM:604536
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Astigmatism, Attention deficit hyperactivity disorder, My... OMIM:152950
4Q21 Microdeletion Syndrome
Self-injurious behavior, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Orofaciodigital Syndrome V
Agenesis of corpus callosum OMIM:174300
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Odontoonychodermal Dysplasia
Hypohidrosis, Palmoplantar hyperhidrosis, Dry hair, Sparse hair, Anonychia, Nail dysplasia, Spars... OMIM:257980
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Ring Chromosome 22 Syndrome
Gait ataxia, Absent septum pellucidum, Inappropriate behavior, Microcephaly, Agenesis of corpus c... ORPHA:1446
Septo-Optic Dysplasia Spectrum
Anosmia, Hypohidrosis, Polydipsia, Obesity ORPHA:3157
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypopla... ORPHA:86822
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:617360
Nephronophthisis 3
Polydipsia OMIM:604387
Polycystic Ovary Syndrome 1
Hirsutism, Obesity OMIM:184700
Abcd Syndrome
Large for gestational age, Albinism OMIM:600501
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Hirsutism, Synophrys, Nail dysplasia, Increased body weight, Low posterior h... OMIM:300860
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Sparse facial hair, Sparse axillary hair, Small for gestational age, Failure to th... OMIM:608154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar hypoplasia, Agyria, Microcephaly, ... OMIM:615249
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Self-injurious behavior, Impulsivity, Anxiety, Agenesis of corpus cal... OMIM:618929
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Obesity, Irritability, Abnorma... ORPHA:3077
Nizon-Isidor Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Anxiety, Agenesis of corpus callosum, Att... OMIM:618872
Baraitser-Winter Syndrome 1
Pachygyria, Postnatal growth retardation, Failure to thrive, Microcephaly, Agenesis of corpus cal... OMIM:243310
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, C... ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Frontonasal Dysplasia 1
Lipoma of corpus callosum, Agenesis of corpus callosum OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Anosmia, Absent eyebrow, Alopecia, Failure to thrive ORPHA:2316
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Long eyelashes in irregular rows,... ORPHA:2963
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Neurofibrillary tangles, Dementia, Abnormal social behavior, Ataxia, Cerebral cort... ORPHA:1020
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Olivopont... ORPHA:370959
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Postnatal growth retar... ORPHA:309246
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Anxiety, Dandy-Walker malformation, Agenesis of corpus callosum, At... ORPHA:459061
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Abnormal hair quantity, Obesity ORPHA:2233
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Tall stature, Hypoplastic anteri... OMIM:616975
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Brain Malformations With Or Without Urinary Tract Defects
Cognitive impairment, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Small for gestational age, Abdominal obesity OMIM:300869
Nephronophthisis 1
Polydipsia OMIM:256100
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Sparse hair, Absent eyelashes, Absent eyebrow, Toenail dysplasia, Alopecia OMIM:607823
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair texture, Progressive h... OMIM:225060
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow, Sparse lower eyelashes, Distichiasis,... ORPHA:1807
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Obesity ORPHA:171829
Arnold-Chiari Malformation Type Ii
Difficulty walking, Ataxia, Emotional lability, Polymicrogyria, Cortical dysplasia, Anxiety, Agen... ORPHA:1136
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Gand Syndrome
Sparse hair OMIM:615074
Pediatric-Onset Graves Disease
Polydipsia, Hyperhidrosis, Polyphagia, Failure to thrive ORPHA:525731
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum OMIM:175700
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum OMIM:218000
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased body weight, Optic nerve hypoplasia, Microcepha... OMIM:609053
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:218350
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity OMIM:614963
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:616239
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Failu... OMIM:606812
Mental Retardation, Autosomal Recessive 5
Thick eyebrow, Small for gestational age, Sparse hair, Synophrys OMIM:611091
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Dysplastic corpus callosum, Microcephaly, Attention deficit h... OMIM:619103
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Anhidrosis, Sparse hair, Absent nipple OMIM:614940
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Dystonia, Agenesis of corpus callosum, Cerebral white matter atrophy, Incr... ORPHA:3008
Phenylketonuria
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Adiposis Dolorosa
Obesity, Anxiety, Depression OMIM:103200
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Sialidosis Type 2
Corneal opacity, Ataxia ORPHA:87876
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Agenesis of corpus callosum OMIM:613174
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Dil... ORPHA:488627
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity ORPHA:369873
Gm1-Gangliosidosis, Type Iii