Gene Summary

Name:
phenylalanine hydroxylase
Synonyms:
N/A

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
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM   Early adult 2.67×10-06
preweaning lethality, incomplete penetrance Pahem1(IMPC)Tcp HOM   Early adult 0.00
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 1.19×10-05

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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 Lateral Orientation

13 Images

Eye Morphology

Images Slit Lamp

20 Images

Eye Morphology

Images Ophthalmoscopy

108 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Histopathology

Images

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Human diseases caused by Pah mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Short stature, Hypopigmented skin patches, Microc... ORPHA:2435
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Silver-gray hair, Seizure, Accumulation of melanosome... OMIM:214450
Gemignani Syndrome
Impaired pain sensation, Ataxia, Hypopigmented skin patches, Delayed puberty, Short stature, Hypo... ORPHA:2074
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Shor... ORPHA:241
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Abnormal anterior cham... ORPHA:42665
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cerebral atrophy, Cataract, Decreased circulating ceruloplasmin concentra... OMIM:614482
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Growth delay, Athetosis, Hypopigmentation of the skin, Dandy-Walker malformation OMIM:257800
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Cerebellar hypoplasia, Ataxia, Subcortical c... ORPHA:33445
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Gait disturbance, Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Griscelli Syndrome, Type 2
Progressive neurologic deterioration, Melanin pigment aggregation in hair shafts, Silver-gray hai... OMIM:607624
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Highly arched eyebrow, Cerebral atrophy, Long eyelashes, Synophrys, Cataract, CNS hypomyelination... OMIM:619286
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure, Alopecia, Woolly hair, Woolly scalp hair OMIM:601217
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature, Hypogonadism OMIM:616113
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microcephaly 10, Primary, Autosomal Recessive
Delayed myelination, Cerebral atrophy, Cataract, Small for gestational age, Microcephaly, CNS hyp... OMIM:615095
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Cataract, Sparse lateral eyebrow, Brittle hair, Abno... ORPHA:170
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed pub... OMIM:616834
4H Leukodystrophy
Hypoplasia of the corpus callosum, Cataract, Delayed puberty, Hyperintensity of cerebral white ma... ORPHA:289494
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Delayed puberty, Short stature, Hypoplasia of penis, Hypospadias, De... ORPHA:1816
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral hypom... ORPHA:369939
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Hypoplasia of the corpus callosum, Hirsutism, Cerebral atrophy, Hyperintensity of... ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract, Cerebral hypomyelination ORPHA:85163
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Classic Phenylketonuria
Hypopigmentation of hair, Growth delay, Microcephaly, Motor deterioration, Cerebral calcification... ORPHA:79254
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebral hypomyelination, Failure to thrive, Microcephaly, CNS hypomyelination OMIM:300475
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Gombo Syndrome
Microphthalmia OMIM:233270
Warburg Micro Syndrome 1
Developmental cataract, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:600118
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Fine hair, Fragile nails, ... ORPHA:500166
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Cessation of head growth, Hyperactivity,... ORPHA:411515
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Agyria, Micropenis, Agenesis of corpus callosum... OMIM:300067
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed CNS myelination, Periventricular leu... OMIM:618875
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Abnormal periventricular white matter morphology, Failure to... OMIM:616881
Developmental And Epileptic Encephalopathy 93
Hypoplasia of the corpus callosum, Cerebral atrophy, Iris coloboma, Microcephaly, CNS hypomyelina... OMIM:618012
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Accumulation of melanosomes... OMIM:256710
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Leukoencephalopathy With Vanishing White Matter
Cessation of head growth, Decreased circulating progesterone, Leukoencephalopathy, Cerebral hypom... OMIM:603896
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Phenylketonuria
Fair hair, Cerebral calcification, Hyperactivity, Microcephaly, Increased level of hippuric acid ... OMIM:261600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Hypopigmentation of the skin, Short stature OMIM:618541
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Hypopla... OMIM:618156
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal circulating homocysteine concent... ORPHA:88618
Al-Raqad Syndrome
Inability to walk, Microcephaly, Unsteady gait, Hypopigmentation of the skin OMIM:616459
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Leukodystrophy, Hypomyelinating, 10
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral cortical atrophy, F... OMIM:616420
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Pili canaliculi, Woolly hair, CNS hypomyelination ORPHA:643
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Leukodystrophy, Hyperintensity of cerebral white matter on MRI OMIM:619224
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Large for gestational age, Microcornea, Microphthalmia ORPHA:2432
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Cerebellar hypoplasia, Ataxia, Intrauterine growth retardation,... OMIM:616353
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Se... OMIM:618559
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Short stature ORPHA:2786
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Hypertriglyceridemia, Overfriendliness, Primary microcephaly OMIM:618010
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Small for gestational age, Increased serum serotonin ORPHA:85288
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination, Pachygyria, Pigmentary retinopathy, Elevated circulating cre... OMIM:617613
Potocki-Lupski Syndrome
Delayed myelination, Hypothyroidism, Hypoplasia of the corpus callosum, Poor eye contact, Hypocho... OMIM:610883
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, CNS hypomyelination, Progressi... OMIM:613477
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Iris coloboma, Microcornea, White forelock, Numerous pigmente... OMIM:601706
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Cerebral atrophy, Simplified gyral pattern, Microcephaly, CNS ... OMIM:615760
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Poor eye contact OMIM:618276
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Microcephaly, Secondary microcephaly, Leukodystrophy OMIM:616763
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Delayed puberty, Hy... OMIM:607694
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Ataxia, Cerebral calcification, Par... ORPHA:79476
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Developmental cataract, Delayed myelination, Cerebral white matter atrophy, Hypoglycinemia, Hypop... ORPHA:79351
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Developmental And Epileptic Encephalopathy 39
Poor eye contact, Cerebral hypomyelination OMIM:612949
Spasticity, Childhood-Onset, With Hyperglycinemia
Hypoplasia of the corpus callosum, Leukodystrophy, Hyperglycinemia OMIM:616859
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Failure to thrive, Abnormal fingernail morphology ORPHA:2278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination, Poor eye contact OMIM:618557
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Failure to thrive OMIM:616577
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Mucolipidosis Iv
Corneal opacity, Hypergastrinemia, Cerebral dysmyelination, Dysplastic corpus callosum, Opacifica... OMIM:252650
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Microcephaly, Hypogonadism ORPHA:2528
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypoplasia of the fovea, Iris transillumination defect, Hypopigment... OMIM:619165
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Hirsutism, Cataract, Microphthalmia, Failure to thrive, Microcephaly, Agenes... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Elevated circulating creatine kinase concentration, Microcepha... OMIM:616239
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Cerebral white matter atrophy, Increased caudate lactate level, Hypernatre... ORPHA:3008
Hsd10 Disease
Gait disturbance, Postnatal growth retardation, Frontotemporal cerebral atrophy, Ataxia, Abnormal... ORPHA:391417
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Low anterior hairline, Highly arched eyebrow, Lumbar hypertrichosis, Simplified gyral pattern, Mi... OMIM:618622
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Paresthesia, Postnatal growth retardation OMIM:615361
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Synophrys, Cataract... OMIM:619260
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral atrophy, Microcephaly OMIM:619125
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract, Fragile nails ORPHA:254704
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
CNS hypomyelination, Cerebral atrophy, Cerebral hypomyelination OMIM:601170
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoplasia of the corpus callosum, Hypoglutaminemia, CNS hypomyelination, Dilatio... OMIM:610015
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Cerebral hypomyelination, Leukoencephalopathy, Failure to thrive, Second... OMIM:608809
Phakomatosis Pigmentovascularis
Paresthesia, Cerebral cortical atrophy, Cerebral calcification, Hypopigmented skin patches, Cogni... ORPHA:2875
Tremor-Ataxia-Central Hypomyelination Syndrome
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Delayed puberty, Ab... ORPHA:447896
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cataract, Microcornea, Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:616171
Leukodystrophy, Hypomyelinating, 22
Astigmatism, CNS hypomyelination OMIM:619328
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, CNS hypomyelination ORPHA:88637
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Peroxisome Biogenesis Disorder 11A (Zellweger)
Lissencephaly, Polymicrogyria, CNS hypomyelination, Failure to thrive OMIM:614883
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, Synophrys, White eyelas... OMIM:193510
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Red hair, Growth delay, Decreased response to growth hormone stimuation test, P... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Red hair, Growth delay, Decreased response to growth hormone stimuation test, P... ORPHA:71526
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, CNS hypomyelination, Leukoencephalopathy OMIM:615281
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Hy... ORPHA:177910
Waardenburg Syndrome, Type 4B
White eyebrow, Heterochromia iridis, Premature graying of hair, White eyelashes, White forelock, ... OMIM:613265
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Peripheral hypomyelination, Basal lamina onion bulb formation, Decreased num... OMIM:214400
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Hereditary Methemoglobinemia
Abnormality of the nail, Temporal cortical atrophy, Delayed myelination, Frontal cortical atrophy... ORPHA:621
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:89838
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Broad eyebrow, Severe demyelination of the white matter, Hyper... ORPHA:481152
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Cachexia OMIM:618186
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Null Syndrome
CNS hypomyelination, Demyelinating peripheral neuropathy, Peripheral demyelination ORPHA:280234
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Short stature, Microcephaly, Agenesis of corpus callosum, Hypopigmentation of the skin ORPHA:261519
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy, Cerebral calcification, Leukoencephalopathy OMIM:614561
Oculocerebrocutaneous Syndrome
Seizure, Microphthalmia, Alopecia, Anophthalmia OMIM:164180
Ddost-Cdg
CNS hypomyelination, Primary hypothyroidism, Failure to thrive ORPHA:300536
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy, Cerebral atrophy, Decreased plasma free carnitine, Hyperlysinemia, Failure to thr... OMIM:616034
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Microphthalmia OMIM:274270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Seizure, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Microphthalmia OMIM:251270
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Developmental cataract, Sparse eyebrow, Hypocholesterolemia, Dysplastic corpus callosum, Brittle ... OMIM:618810
Developmental And Epileptic Encephalopathy 75
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Secondary... OMIM:618437
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Hypoplasia of the corpus callosum, Microcephaly, Generalized hypopigmentation OMIM:615075
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Partial agenesis o... OMIM:604213
Leukodystrophy, Hypomyelinating, 6
Microcephaly, Leukodystrophy, Cerebral hypomyelination OMIM:612438
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Cataract, Agenesis of corpus callosum ORPHA:401830
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Cataract, Cerebral calcification,... ORPHA:1466
Albinism, Oculocutaneous, Type Ii
Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Hypoplasia of the fo... OMIM:203200
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Developmental And Epileptic Encephalopathy 73
Delayed CNS myelination, Hypoplasia of the corpus callosum, Cataract, Failure to thrive, Microcep... OMIM:618379
Menkes Disease
Intrauterine growth retardation, Microcephaly, Hypopigmentation of the skin, Short stature OMIM:309400
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hypoplasia of the corpus callosum, Poor eye contact, Hyperintensity of cerebral white matter on M... ORPHA:438114
Developmental And Epileptic Encephalopathy 76
Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Periventricular whi... OMIM:618468
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Hypointensity of cerebral white matter on MRI OMIM:619196
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Cessation ... ORPHA:411511
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Cataract, Small for gestational age, Microphthalmia, Failure to thrive ORPHA:1617
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Hypoplasia of the corpus callosum, Cerebral atrophy, Hippocam... OMIM:618922
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed myelination OMIM:616158
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Pachygyria, Hypoplasia of the corpus callosum, Simplified gyral pattern, Microcephaly, CNS hypomy... OMIM:615966
Waardenburg Syndrome, Type 4A
White eyebrow, Heterochromia iridis, Premature graying of hair, Ataxia, White eyelashes, White fo... OMIM:277580
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Ataxia, Hypopigmente... ORPHA:2885
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Leukodystrophy OMIM:616494
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Delayed CNS myelination, Elevated levels of phytanic acid, Cerebral corti... OMIM:215100
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Delayed CNS myelination, Cerebral atrophy, Cataract, Microcephaly OMIM:616154
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Premature graying of hair, White eyebrow, Ocular albinism, Hypoplasia of th... OMIM:611584
Faciothoracogenital Syndrome
Small nail, Microphthalmia OMIM:227320
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Sparse eyebrow, Hypoplasia of the corpus callosum, Secondary microcephaly, Synophrys, Elevated ci... OMIM:617193
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Corpus callosum atrophy, Diffuse cerebral sclerosis, Sudanophilic leukodystrophy,... OMIM:260600
Adenylosuccinase Deficiency
Poor eye contact, Cerebral atrophy, Cerebral hypomyelination, Microcephaly, CNS hypomyelination OMIM:103050
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral atrophy, Cerebral hypomyelination, Demyelinating motor neuropathy OMIM:608804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Corneal opacity, Ca... OMIM:613153
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Abnormality of the nail, Abnormal hair morphology, Corneal opacity, ... ORPHA:317
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Delayed myelination, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, CN... OMIM:614922
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum, Leukodystrophy, Cerebral hypomy... OMIM:614381
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Congenital Varicella Syndrome
Cerebral cortical atrophy, Cataract, Microcephaly, Microphthalmia ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Cataract, Microphthalmia OMIM:278780
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, Highly arched eyebrow, Hypoplasia of the corpus callosum, Poor eye contact... ORPHA:457351
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypoplasia of the corpus callosum, Ataxia, Hypop... ORPHA:98794
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Partial agenesis of the corpus callosum, Nail dysplasia, Cerebral cortic... OMIM:234050
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule ORPHA:69125
Pierpont Syndrome
High anterior hairline, Primary microcephaly, Abnormal cortical gyration, Small for gestational a... ORPHA:487825
Developmental And Epileptic Encephalopathy 29
Microcephaly, CNS hypomyelination, Cerebral atrophy, Failure to thrive OMIM:616339
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Cessation of head ... ORPHA:98795
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Hyperthreoninemia, Cataract, Hyperthreoninuria OMIM:204000
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Hypoplasia of the corpus callosum, Hirsutism, Cerebral atrophy, Microcephaly OMIM:618006
Slc35A2-Cdg
Inability to walk, Abnormal renal morphology, Cerebral white matter atrophy, Transient nephrotic ... ORPHA:356961
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Cerebral cortical atrophy, Cataract, Microcornea, Microphthalmia, Hypogonadotropi... ORPHA:48431
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Developmental And Epileptic Encephalopathy 35
Microcephaly, Cerebral atrophy, Cataract, Delayed CNS myelination OMIM:616647
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Microcephaly, Hypopigmentation of the skin ORPHA:261304
Triokinase And Fmn Cyclase Deficiency Syndrome
Delayed CNS myelination, Failure to thrive in infancy, Cataract, Microphthalmia, Hypoalbuminemia OMIM:618805
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Peroxisomal Acyl-Coa Oxidase Deficiency
Leukodystrophy, No social interaction, CNS demyelination, Pigmentary retinopathy OMIM:264470
17Q12 Microduplication Syndrome
Seizure, Microphthalmia, Synophrys ORPHA:261272
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Ataxia, White eyelashes, White for... ORPHA:2884
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Hartnup Disease
Irregular hyperpigmentation, Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria, Short st... ORPHA:2116
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Cataract, Corpus callosum atrophy, Failure to thrive OMIM:614877
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Red hair, Hyperbilirubinemia, Decreased response to growth hormone stimuation... OMIM:609734
Methionine Malabsorption Syndrome
Seizure, White hair, Blue irides OMIM:250900
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, Simple febrile seizure, Generalized non-motor (absence) seiz... ORPHA:1942
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Pierpont Syndrome
High anterior hairline, Decreased body weight, Microcornea, Microphthalmia, Failure to thrive, Mi... OMIM:602342
Pelizaeus-Merzbacher Disease In Female Carriers
Abnormal corpus callosum morphology, CNS hypomyelination, Hyperintensity of cerebral white matter... ORPHA:280229
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Nail dysplasia, Cataract, Microcor... ORPHA:139471
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Small for gestational age, Delayed CNS myelin... OMIM:618851
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:266510
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Adams-Oliver Syndrome 2
Seizure, Low anterior hairline, Small nail, Microphthalmia OMIM:614219
Developmental And Epileptic Encephalopathy 4
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral hypomyelination OMIM:612164
Galactose Epimerase Deficiency
Cataract, Aminoaciduria, Weight loss ORPHA:79238
Vogt-Koyanagi-Harada Disease
Vitiligo, Premature graying of hair, Poliosis, Short stature, Hypopigmented skin patches, Cogniti... ORPHA:3437
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Cataract, Microcornea, Microphthalmia, Abnormality of hair texture, A... ORPHA:35173
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Cerebral atrophy, Postnatal grow... ORPHA:309246
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Sparse hair, Cataract, Small for gestational age, Microphthalmia, Microce... OMIM:610756
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Bilateral microphthalmos, Focal hyperkinetic seizure, Generalized-onset seiz... ORPHA:77299
Infantile Sialic Acid Storage Disease
Fair hair, Cerebral atrophy, Hypopigmentation of the skin, Nephrotic syndrome OMIM:269920
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Combined Saposin Deficiency
Hypoplasia of the corpus callosum, CNS demyelination, Abnormal periventricular white matter morph... OMIM:611721
Fanconi Anemia, Complementation Group G
Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Lissencephaly 8
Hypoplasia of the corpus callosum, Abnormal myelination, Polymicrogyria, Cataract, Elevated circu... OMIM:617255
Fanconi Anemia, Complementation Group J
Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Microphthalmia ORPHA:1473
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Developmental cataract, Delayed CNS myelination, Hypoplasia of the corpus ... OMIM:618804
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, CNS hypomyelination, Delayed myelination OMIM:618367
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Hypopigmented skin patches, White forelock, Part... OMIM:148820
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Microcephaly, Postnatal growth retardation OMIM:600546
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreas... ORPHA:96180
Vici Syndrome
Abnormality of retinal pigmentation, Cerebellar hypoplasia, Renal tubular acidosis, Cerebral cort... ORPHA:1493
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cataract, Polymicrogyria, Optic nerve hypoplasia, Microphthalmia, Leukoenc... OMIM:615181
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Hypopigmented skin patches, Short stature, Abnormal localization of kidney ORPHA:1825
Trichothiodystrophy 1, Photosensitive
Freckling, Small nail, Sparse hair, Tiger tail banding, Nail dystrophy, Cataract, Keratoconjuncti... OMIM:601675
Warburg Micro Syndrome 3
Low anterior hairline, Developmental cataract, Shallow anterior chamber, Hypoplasia of the corpus... OMIM:614222
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract, Type II lissencephaly ORPHA:324416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, Cataract, Elevated circulating creatine kinase concentration, Microcephaly, CNS... OMIM:615356
Alexander Disease
Diffuse demyelination of the cerebral white matter OMIM:203450
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Cerebral atrophy, Delayed CNS myelination, Pigmentary retinopathy OMIM:619090
Galloway-Mowat Syndrome 1
Hypoplasia of the brainstem, Dystonia, Renal insufficiency, Pachygyria, Focal segmental glomerulo... OMIM:251300
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of hair, W... ORPHA:79435
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Sparse eyebrow, Hypoplasia of the corpus callosum, Hirsutism, Primary microcephaly, Cerebral cort... ORPHA:496641
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, T... ORPHA:290
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hyperpigmentation of the skin, Severe short stature, Hypopigmented skin patches ORPHA:2251
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Macrogyria, Cerebral hypomyelination, Failure to thrive, Confluent hyperint... ORPHA:280210
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral hypomyel... OMIM:616683
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, CNS hypomyelination, Cachexia ORPHA:300605
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Hypoplasia of the corpus callosum, Hypocholesterolemia, Sparse and thin eyebrow, Mic... OMIM:244450
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal renal tubule morphology, Iris hypopigmentation, Wh... ORPHA:2720
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Sh... ORPHA:999
Angelman Syndrome
Progressive gait ataxia, Fair hair, Cerebral cortical atrophy, Blue irides, Hyperactivity, Second... OMIM:105830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Cataract, Agyria, Abnormally large globe, Microphthalmia, Elevated circula... OMIM:615249
Congenital Toxoplasmosis
Seizure, Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of the endocrine system, Hypothyroidism, Hypoplasia of the corpus callosum, Iris colo... ORPHA:268261
Norrie Disease
Hypoplasia of the iris, Seizure, Microphthalmia OMIM:310600
Aminoacylase 1 Deficiency
Cerebral atrophy, Delayed CNS myelination OMIM:609924
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Hypothyroidism, Decreased body weight, Opt... OMIM:609053
Frontonasal Dysplasia 1
Widow's peak, Lipoma of corpus callosum, Cataract, Microphthalmia, Agenesis of corpus callosum OMIM:136760
Leigh Syndrome With Leukodystrophy
Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Pigmentary retinopathy, Hypertrichosi... ORPHA:255241
Cystinosis, Nephropathic
Progressive neurologic deterioration, Male hypogonadism, Retinal pigment epithelial mottling, Del... OMIM:219800
Pontocerebellar Hypoplasia, Type 15
Delayed social development, Delayed CNS myelination, Simplified gyral pattern, Agenesis of corpus... OMIM:619302
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination, Progressive microcephaly OMIM:618863
Baraitser-Winter Syndrome 2
Seizure, Highly arched eyebrow, Microphthalmia OMIM:614583
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Irregular menstruation, Sparse pubic hair, Female infertility,... OMIM:110100
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Microphthalmia OMIM:610023
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Abnormal hair morphology, Anophthalmia OMIM:248450
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Hirsutism, Corneal opacity, Type II diabetes mellitus, Increased serum est... ORPHA:3455
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microp... OMIM:614833
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Iri... ORPHA:2611
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed myelination, Hypoplasia of the corpus callosum, Cataract, Microphthalmia, Microcephaly OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Sparse hair, Cataract, Keratoconjunctivitis sicca, Microcornea,... ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy, Buphthalmos, Hypoplasia of the corpus callosum, Cataract, Polymicrogyria, Agyria,... OMIM:616538
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Somatic sensory dysfunction, Chro... ORPHA:79473
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Microphthalmia OMIM:212550
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal CNS myelination, Microcephaly, Failure to thrive ORPHA:477673
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Cataract, Basal ganglia calcification, Microphthalmia, Microce... OMIM:610651
Oculocerebral Hypopigmentation Syndrome Of Preus
Growth delay, Generalized hypopigmentation OMIM:257790
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Hypocalcemia, Developmental cataract, Focal white matter lesi... ORPHA:557003
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Microphthalmia, Syndromic 13
Microcephaly, Microcornea, Microphthalmia OMIM:300915
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Abnormality iris morphology, Type II lissencephaly, Cataract,... ORPHA:370959
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Galactosemia I
Increased level of galactitol in red blood cells, Hypergonadotropic hypogonadism, Increased level... OMIM:230400
Gaba-Transaminase Deficiency
Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Chromosome 1Q41-Q42 Deletion Syndrome
Seizure, Microphthalmia OMIM:612530
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Glomerulopathy, Short ... ORPHA:2715
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Delayed CNS myelination, Agenesis of corpus callosum, Simplified gyra... OMIM:619301
Leukodystrophy, Hypomyelinating, 4
Secondary microcephaly, Leukodystrophy OMIM:612233
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Abnormal CNS myelination, Obesity ORPHA:521390
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Hypothyroidism, Hyperbilirubinemia, Ste... ORPHA:14
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Abnormal hair morphology, Aminoaciduria, Cataract, Subcapsular cataract ORPHA:414
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Seizure, Microphthalmia OMIM:602501
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Shallow anterior chamber, Small nail, Cerebral hypomyelination, Supernumer... ORPHA:247262
Tyrosinemia, Type Ii
Herpetiform corneal ulceration, Hypertyrosinemia OMIM:276600
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Widow's peak, Abnormal eyelash morphology, Bilateral microphthalmos, Corneal opac... ORPHA:2399
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract, Agenesis of corpus callosum ORPHA:93267
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Pachygyria, Absent septum pellucidum, Iris co... ORPHA:899
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Microphthalmia, Simplified gyral pattern, Microcephaly, A... OMIM:152950
Marbach-Rustad Progeroid Syndrome
Microcephaly, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI OMIM:619322
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of hair, Decreas... ORPHA:98754
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
3-Methylglutaconic Aciduria, Type V
Glutaric aciduria, 3-Methylglutaric aciduria, Postnatal growth retardation, Intrauterine growth r... OMIM:610198
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Frontofacionasal Dysplasia
Brushfield spots, Hypoplasia of the corpus callosum, Iris coloboma, Cataract, Microcornea, Microp... ORPHA:1791
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Cataract, Delayed puberty, Alopecia, Elevated circulating creatine kinase concent... OMIM:615704
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Megalocornea-Mental Retardation Syndrome
Low anterior hairline, Hypercholesterolemia, Delayed CNS myelination, Hypoplasia of the iris, Cer... OMIM:249310
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of hair, Decreas... ORPHA:98793
Leukodystrophy, Hypomyelinating, 9
Hypoplasia of the corpus callosum, Microcephaly, Leukodystrophy OMIM:616140
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Leukodystrophy, Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebral white m... OMIM:615471
Aicardi-Goutieres Syndrome 6
Microcephaly, Leukodystrophy, Cerebral calcification OMIM:615010
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Hypogonadism, Obesity ORPHA:141333
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of hair, Decreas... ORPHA:177904
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neuronal loss in the cerebral cortex, Diffuse demyelination of the cerebral white mat... ORPHA:168486
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of hair, Decreas... ORPHA:177901
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Leukoencephalopathy, Diffuse white matter abnormalities, Alopecia, Diffuse demyelination of the c... OMIM:600142
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalm... OMIM:615877
Spinocerebellar Ataxia 23
CNS demyelination, Agenesis of corpus callosum OMIM:610245
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Hypopigmentation of hair, Lethargy, Impaired temperature sensation, Hypothalamic lut... ORPHA:398069
Warburg Micro Syndrome 4
Low anterior hairline, Developmental cataract, Hypoplasia of the corpus callosum, Hirsutism, Cere... OMIM:615663
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Fusion of the left and right thalami, S... OMIM:619306
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Pachygyria, Iris coloboma, Microphthalmia, Failure to thrive, Microcephaly... OMIM:243310
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Red hair, Keratoglobus, Abnormal cornea morphology OMIM:229200
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Cataract OMIM:614932
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Failure to th... OMIM:614924
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Porencephalic cyst, Hypoplasia of the corpus callosum, Hypoplasia of the iris, Co... OMIM:613001
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Microcephaly, Agenesis of corpus callosum... ORPHA:1528
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy, Buphthalmos, Hypoplasia of the corpus callosum, Cataract, Polymicrogyria, Agyria,... ORPHA:370997
Incontinentia Pigmenti
Abnormality of skin pigmentation, Nail pits, Sparse hair, Breast hypoplasia, Ridged nail, Coarse ... OMIM:308300
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes OMIM:613456
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Prader-Willi Syndrome
Infertility, Iris hypopigmentation, Hypopigmentation of hair, Hyperinsulinemia, Oligomenorrhea, P... OMIM:176270
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Cataract, Cerebral calcification, ... OMIM:146200
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism, Microphthalmia, Obesity ORPHA:363741
Chromosome 14Q11-Q22 Deletion Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, Failure to thrive, Microcephaly, Abnormal CN... OMIM:613457
Warburg Micro Syndrome 2
Low anterior hairline, Developmental cataract, Hypoplasia of the corpus callosum, Secondary micro... OMIM:614225
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hypogonadism, Microphthalmia, Obesity OMIM:601794
Angelman Syndrome
Inability to walk, Iris hypopigmentation, Ataxia, Fair hair, Cerebral dysmyelination, Cerebral co... ORPHA:72
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Hypopigmentation of hair, Lethargy, Impaired temperature sensation, Small pituitary ... ORPHA:398079
Hypomelanosis Of Ito
Macrocephaly, Microcephaly, Cerebral atrophy, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of co... OMIM:218670
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Cataract, Microphthalmia, Low posterior hairl... ORPHA:85194
Oculogastrointestinal Neurodevelopmental Syndrome
Hirsutism, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cer... OMIM:615330
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Growth delay, Short stature, Hemimegalencephaly, Hypopigment... OMIM:163200
Rodrigues Blindness
Sparse hair, Microcornea, Microphthalmia, Sclerocornea, Fine hair OMIM:268320
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Low anterior hairline, Delayed myelination, Sparse hair, Hypothyroidism, Hypoplasia of the corpus... ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 5
Leukoencephalopathy, Leukodystrophy, Progressive microcephaly, Failure to thrive OMIM:618226
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypothyroidism, Hypocholesterolemia, Hypoalbuminemia, Failure to ... OMIM:212065
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Diffuse cerebral atrophy, Delayed CNS myelination ORPHA:352596
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Mental Retardation With Language Impairment And With Or Without Autistic Features
Delayed CNS myelination, Failure to thrive in infancy, Obesity OMIM:613670
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Elevated 8-dehydrocholesterol, Cataract, Sparse and thin eyebrow, Microphthalmia, Al... OMIM:302960
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Pyruvate Carboxylase Deficiency
Leukodystrophy, Increased serum pyruvate, Neuronal loss in the cerebral cortex, Hyperalaninemia, ... OMIM:266150
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Pigmentary retinopathy, Hypertrichosis, Failure to thri... OMIM:256000
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Prader-Willi-Like Syndrome
Infertility, Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of hair, Decreas... ORPHA:398073
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Abnormal cerebral white matter morphology, CNS demyelination, Leukoencephalopathy OMIM:221820
Leukodystrophy, Hypomyelinating, 16
Hypoplasia of the corpus callosum, Leukodystrophy OMIM:617964
Rere-Related Neurodevelopmental Syndrome
Hypoplasia of the corpus callosum, Iris coloboma, Broad eyebrow, Peters anomaly, Microphthalmia, ... ORPHA:494344
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Leukodystrophy, Abnormal circulating carnitine concentration, Hypopla... ORPHA:431361
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, CNS hypomyelination OMIM:614501
Micro Syndrome
Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Cereb... ORPHA:2510
Vici Syndrome
Penile hypospadias, Albinism, Hypopigmentation of hair, Growth delay, Cerebellar vermis hypoplasi... OMIM:242840
Temtamy Syndrome
Microphthalmia, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum ORPHA:1777
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Failure to thrive, Microcephaly, Abnormal C... OMIM:312080
Sjogren-Larsson Syndrome
CNS demyelination, Opacification of the corneal epithelium OMIM:270200
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Delayed CNS myelination, Increased le... OMIM:271980
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Seizure, Partial albi... ORPHA:79477
Ring Chromosome 10 Syndrome
Seizure, Microphthalmia ORPHA:1438
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Microphthalmia, Syndromic 8
Microcephaly, Microcornea, Microphthalmia OMIM:601349
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity ORPHA:3191
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney, Delayed puberty, Hypopigmented skin patches, Intraute... ORPHA:3121
Prader-Willi Syndrome
Infertility, Hypopigmentation of hair, Abnormal cerebral white matter morphology, Impaired temper... ORPHA:739
Canavan Disease
Increased circulating N-Acetylaspartic acid concentration, CNS demyelination, Elevated urinary N-... OMIM:271900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Hypopigmented skin patches, Abnormal corpus callosum morphology... ORPHA:457485
Leigh Syndrome
Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Generalized aminoaciduria, Hypoplasia... ORPHA:506
Hawkinsinuria
Failure to thrive, Hypertyrosinemia OMIM:140350
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Delayed CNS myelination, Hypoplasia of the corpus callosum, Failure to thrive, Microcephaly, Abno... OMIM:618603
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Abnormality of the hairline, Elevated circulating long chain fatty acid concent... OMIM:614886
Pelizaeus-Merzbacher Disease, Classic Form
Confluent hyperintensity of cerebral white matter on MRI, Cerebral hypomyelination ORPHA:280219
Oculocutaneous Albinism Type 1A