Gene Summary

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

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
abnormal skin morphology Itpr3em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Itpr3em1(IMPC)Mbp HOM Early adult 1.30×10-05
enlarged spleen Itpr3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Itpr3em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Itpr3em1(IMPC)Mbp HOM   Early adult 7.86×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Polyphagia, Polydipsia 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
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse 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
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Lissencephaly 3
Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermi... OMIM:611603
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Lissencephaly, X-Linked, 1
Ataxia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of corpus callosum OMIM:300067
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Cerebral atrophy, Absent septum pellucidum, Microcephaly, Hypoplasia of the co... OMIM:618492
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Difficulty walking, Spast... ORPHA:401820
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... ORPHA:101029
Foxg1 Syndrome
Decreased body weight, Poor eye contact, Inability to walk, Inappropriate crying, Severe postnata... ORPHA:561854
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callo... OMIM:604213
Dermoids Of Cornea
Corneal opacity OMIM:304730
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum ORPHA:85334
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Microcornea ORPHA:2432
Masa Syndrome
Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum, Unst... OMIM:617542
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation OMIM:233810
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly, Decreased body weight, Agenesis of corpus callosum OMIM:616681
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Microlissenceph... OMIM:617090
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Poor eye contact, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:612948
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... ORPHA:1808
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Mental deterioration, Hypoplasia of the corpus c... OMIM:604360
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primar... ORPHA:300570
Band Heterotopia
Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Glycine Encephalopathy
Aggressive behavior, Impulsivity, Agenesis of corpus callosum, Irritability OMIM:605899
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Agenesis of corpus callosum OMIM:211200
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia ... ORPHA:255182
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cognitive impairment, Cavum septum pellucidum, Microcephaly, Cortical... ORPHA:300573
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Cerebellar hypoplasia, Delayed social development, Simplified gyral patte... OMIM:619301
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Pontocerebellar Hypoplasia, Type 15
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Delayed social development, Simpl... OMIM:619302
Spinocerebellar Ataxia 23
Gait ataxia, Agenesis of corpus callosum, Dysmetria, Limb ataxia OMIM:610245
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum, Tall stature OMIM:613163
Usmani-Riazuddin Syndrome, Autosomal Recessive
Aggressive behavior, Agenesis of corpus callosum OMIM:619548
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum ORPHA:85179
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Dysplastic corpus callosum, Poor eye contact, Inability to walk, Micro... OMIM:618276
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... OMIM:618959
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior OMIM:618010
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Masa Syndrome
Shuffling gait, Microcephaly, Agenesis of corpus callosum OMIM:303350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia cysts, Choreoathetosis, ... OMIM:312170
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity ORPHA:85274
Microhydranencephaly
Poor eye contact, Self-mutilation, Microcephaly, Cerebellar hypoplasia, Athetosis, Pachygyria, Hy... OMIM:605013
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Galactosialidosis
Corneal opacity ORPHA:351
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Morquio Syndrome C
Corneal opacity OMIM:252300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum OMIM:617669
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Decreased body weight, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Corticos... ORPHA:255138
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Ridged nail, Fine hair, Slow-growing... OMIM:129490
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Lissencephaly Type Iii And Bone Dysplasia
Akinesia, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpus callosum, Hypopla... OMIM:601160
Aredyld
Generalized hypotrichosis OMIM:207780
Oculotrichodysplasia
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... OMIM:257960
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... ORPHA:1818
Imagawa-Matsumoto Syndrome
Tall stature, Overgrowth, Birth length greater than 97th percentile, Polymicrogyria, Agenesis of ... OMIM:618786
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar vermis hypoplasia, Gait a... ORPHA:453521
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:262767
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum OMIM:618766
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Caudate atrophy, Choreoathetosis, Agenesis of corpus callosum OMIM:618238
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Oliver-Mcfarlane Syndrome
Sparse hair, Small for gestational age, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Moynahan Syndrome
Cachexia, Sparse hair, Alopecia ORPHA:2574
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Microcephaly, Aggressive behavior, Agenesis of corpus callosum OMIM:615286
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Obesity, Truncal obesity OMIM:615986
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum, Dand... OMIM:225790
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Agenesis of corpus callosum, Dysmetria OMIM:250620
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia, Irritab... OMIM:607196
Manganese Poisoning
Akinesia, Impairment in personality functioning, Depression, Memory impairment, Gait disturbance,... ORPHA:306682
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Failure to thrive, Cerebral atrophy, Microcephaly, Cerebellar hypopla... OMIM:600118
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Teratoma, Pineal
Polydipsia OMIM:273120
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ... ORPHA:2985
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Failure to thrive, Truncal obesity ORPHA:261483
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Hurler-Scheie Syndrome
Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93476
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Lissenc... OMIM:218670
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar... OMIM:304100
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Schopf-Schulz-Passarge Syndrome
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma... OMIM:224750
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Galactose Epimerase Deficiency
Cataract, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Winchester Syndrome
Corneal opacity OMIM:277950
Hypotrichosis 6
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes OMIM:607903
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity, Red hair ORPHA:71526
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II lissencepha... OMIM:613153
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding OMIM:619692
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia, Red hair OMIM:609734
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Microcephaly, Abnormal cerebral white matter morphology, Unsteady g... OMIM:614947
Hawkinsinuria
Fine hair, Failure to thrive, Sparse hair ORPHA:2118
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturbance, Difficult... ORPHA:98764
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Craniotelencephalic Dysplasia
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-optic dysplasia, Agene... ORPHA:1528
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicr... OMIM:614833
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Alopecia OMIM:604931
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Sparse lateral eyebrow ORPHA:79133
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... ORPHA:1433
Familial Cold Urticaria
Polydipsia, Hyperhidrosis ORPHA:47045
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morp... OMIM:618603
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Small for gestational age, B... ORPHA:79243
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly, Unsteady gait, Ataxia OMIM:245349
Hyperostosis Frontalis Interna
Obesity, Hypertrichosis OMIM:144800
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypopigmentation of hair ORPHA:177910
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... ORPHA:113
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail ORPHA:2251
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Absent eyebrow, Anhidrosis, Absent eyelashes, Dystrophic fingernails, Nail dystrophy... OMIM:604536
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Small for gestational age OMIM:610498
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... OMIM:602400
Heyn-Sproul-Jackson Syndrome
Decreased body weight, Sparse hair OMIM:618724
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Neuronal loss in the cerebral cortex, P... ORPHA:168486
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Distichiasis, Sparse hair, Absent lower eyelashes OMIM:227260
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Absent eyelashes, Nail dystrophy, Thin nail OMIM:618625
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Cataract, Anemia, Th... ORPHA:290
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Perry Syndrome
Apathy, Akinesia, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, Disinhibition, ... OMIM:168605
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Failure to thrive, Decreased body weight, Small for gestational age, Microcephaly, Partial agenes... OMIM:618346
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:616342
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Hypohidrosis, Abnormal fingernail morphology ORPHA:1810
Sialidosis Type 2
Corneal opacity, Ascites, Hepatomegaly, Splenomegaly ORPHA:87876
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Hypoplasia of the co... OMIM:616756
Hydrocephalus-Obesity-Hypogonadism Syndrome
Absent facial hair, Sparse facial hair, Obesity, Low posterior hairline ORPHA:2183
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes OMIM:616901
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... ORPHA:1809
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... OMIM:613102
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Dermoodontodysplasia
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Hypohidrosis, Trich... ORPHA:1660
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Ataxia, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypopla... OMIM:616819
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Ochoa Syndrome
Polydipsia ORPHA:2704
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Bardet-Biedl Syndrome 17
Obesity, Polydipsia, Anosmia, Hyposmia OMIM:615994
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Hype... OMIM:614594
Central Precocious Puberty
Obesity, Increased body weight, Abnormality of secondary sexual hair, Overgrowth ORPHA:759
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Mental deterioration, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, A... OMIM:618476
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Nonprogressive cerebellar ataxia, Cerebellar vermis hypoplasia, Primary microcephal... ORPHA:466688
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis ORPHA:181
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Abnormal eating behavior OMIM:614962
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Hypoplasia of the corpus callosum, Obesity ORPHA:444002
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... OMIM:604804
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow OMIM:104100
Hsd10 Disease
Ataxia, Focal white matter lesions, Abnormal social behavior, Microcephaly, Gait disturbance, Cho... ORPHA:391417
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... ORPHA:89844
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Amish Lethal Microcephaly
Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Agenesis of corpus callosum, Irritability ORPHA:99742
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:164180
Spinocerebellar Ataxia 21
Apathy, Ataxia, Progressive cerebellar ataxia, Impulsivity, Limb ataxia, Akinesia, Mental deterio... OMIM:607454
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Microcephaly, Agenesis of corpus callosum OMIM:610680
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Basal ganglia calcification, Small for gestational age, Microcephaly, Cerebell... OMIM:214150
6Q25 Microdeletion Syndrome
Failure to thrive, Microcephaly, Agenesis of corpus callosum ORPHA:251056
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Hypohidrosis, Sparse eyelashes OMIM:618535
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Nephronophthisis 4
Polydipsia OMIM:606966
Lissencephaly 6 With Microcephaly
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... OMIM:616212
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Ataxia, Inability to walk, Hypoplasia of the corpus callosum, Difficulty walki... ORPHA:481152
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... OMIM:603552
11P15.4 Microduplication Syndrome
Obesity, Highly arched eyebrow, Synophrys ORPHA:300305
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum OMIM:614120
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, A... ORPHA:280763
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mucolipidosis Iv
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Choreoathetosis, Inability to walk, Thin corpus callosum OMIM:619653
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Baraitser-Winter Syndrome 2
Pachygyria, Lissencephaly, Secondary microcephaly, Agenesis of corpus callosum OMIM:614583
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy OMIM:275450
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Failure to thrive, Microcephaly, Spastic gait OMIM:249630
Bazex Syndrome
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Hypohidrosis, Trichoepithelioma OMIM:301845
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Coffin-Siris Syndrome 3
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Long eyelashes OMIM:614608
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum ORPHA:380
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Hyperhidrosis OMIM:613576
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Agenesis of corpus callosum OMIM:619989
Craniosynostosis 6
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Abnormal corpus callosum mo... OMIM:616602
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia, Hypopigmentation of hair ORPHA:411515
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Scarring alopecia of scalp, Anonychia, Nail dystrophy ORPHA:79402
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Apathy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Absent septu... ORPHA:96147
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Cardiofaciocutaneous Syndrome 2
Fine hair, Sparse hair, Curly hair, Absent eyebrow OMIM:615278
Rosselli-Gulienetti Syndrome
Nail dysplasia, Progressive hypotrichosis, Sparse eyebrow, Sparse eyelashes, Hypohidrosis OMIM:225000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Alopecia Antibody Deficiency
Sparse body hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:1006
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618577
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Microcephaly, Thin corpus callosum OMIM:619517
Trichohepatoenteric Syndrome 2
Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Small for gestational age, Trichorrhex... OMIM:614602
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Intellectual Developmental Disorder, Autosomal Dominant 36
Inability to walk, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Agenesis of corp... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Type II lissencephaly, Agenesis of corpus... OMIM:615287
Septo-Optic Dysplasia Spectrum
Obesity, Polydipsia, Anosmia, Hypohidrosis ORPHA:3157
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Tall stature, Disproportionate tall stature, Aggressive behavior, Emotional lability, Impaired so... OMIM:309520
Nephronophthisis 3
Polydipsia OMIM:604387
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Microcephaly, Inappropriate behavior, Gait ataxia, Agenesis of corpus c... ORPHA:1446
Alpha-Mannosidosis
Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:61
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Impulsivity, Poor eye contact, Microcephaly, Aggressive behavior, Obesity... OMIM:619312
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Self-injurious behavior, Agenesis of corpus callosum ORPHA:238750
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia OMIM:125800
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia OMIM:304800
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... ORPHA:86822
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia OMIM:245900
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum OMIM:615433
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Partial agenesi... ORPHA:500144
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Hereditary Late-Onset Parkinson Disease
Apathy, Cerebral cortical atrophy, Impulsivity, Akinesia, Dementia, Depression, Mental deteriorat... ORPHA:411602
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly, Progressive mi... OMIM:615249
Filippi Syndrome
Hypertrichosis, Decreased body weight, Sparse hair, Frontal hirsutism OMIM:272440
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Aggressive behavior... OMIM:619244
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Agenesis of corpus callosum OMIM:619320
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Small for gestational age, Sparse axillary hair, Sparse facial ... OMIM:608154
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia, Anosmia, Hyposmia OMIM:617885
Baraitser-Winter Syndrome 1
Failure to thrive, Microcephaly, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesi... OMIM:243310
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:2850
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618142
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Progeroid Syndrome, Petty Type
Failure to thrive, Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle hair, Long eyelashe... ORPHA:2963
Johnson Neuroectodermal Syndrome
Failure to thrive, Absent eyebrow, Sparse hair, Alopecia, Hypohidrosis, Absent eyelashes, Anosmia ORPHA:2316
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Nephronophthisis 1
Polydipsia OMIM:256100
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal hair quantity, Low posterior hairline ORPHA:2233
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Cerebellar hypoplasia, Athetosis, Aggressive behavior, Agenesis of corpus ca... OMIM:619435
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Absent eyelashes, Abnormality of the nail OMIM:607823
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysphagia, Failure to thrive, Sparse hair OMIM:620001
Frontonasal Dysplasia 1
Agenesis of corpus callosum, Pericallosal lipoma OMIM:136760
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Mental deteriorat... ORPHA:2822
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
East Syndrome
Salt craving, Polydipsia ORPHA:199343
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum OMIM:300952
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Scheie Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93474
Arnold-Chiari Malformation Type Ii
Ataxia, Anxiety, Cortical dysplasia, Polymicrogyria, Partial agenesis of the corpus callosum, Dif... ORPHA:1136
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cognitive impairment OMIM:613735
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Abdominal obesity, Small for gestational age OMIM:300869
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Gait ataxia, Aggressi... OMIM:618109
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyr... ORPHA:370959
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Failure to thrive, Hyperhidrosis ORPHA:525731
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Gand Syndrome
Sparse hair OMIM:615074
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Tip-toe gait, Partial agenesis of the corpus callosum, Obesity, Spastic gait OMIM:617296
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Focal Facial Dermal Dysplasia Type Iii
Sparse hair, Abnormal hair pattern, Sparse lower eyelashes, Distichiasis, Highly arched eyebrow, ... ORPHA:1807
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... OMIM:225060
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Thick eyebrow ORPHA:171829
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Memory impairment, Obesity, Secondary microcephaly, Periventricular w... OMIM:619737
Congenital Short Bowel Syndrome