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
preweaning lethality, incomplete penetrance Pahem1(IMPC)Tcp HOM   Early adult 0.00
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 6.27×10-06
small spleen Pahem1(IMPC)Tcp HET Early adult 0.00
microphthalmia Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 1.07×10-05
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM   Early adult 2.89×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

108 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Gross Pathology and Tissue Collection

Images

17 Images

Histopathology

Images

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Eye Morphology

Images Slit Lamp

20 Images

X-ray

XRay Images Whole Body Lateral 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
Hypopigmented skin patches, Microcephaly, Short stature, Melanocytic nevus, Irregular hyperpigmen... ORPHA:2435
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:214450
Gemignani Syndrome
Hypopigmented skin patches, Impaired pain sensation, Hypoplasia of penis, Ataxia, Short stature, ... ORPHA:2074
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Multiple cafe-au-lait spots, Short stature, Freckling, Hypermelanotic... ORPHA:241
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Cerebral atrophy, Microcephaly, Intrauterine growth retardation OMIM:614023
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, White forelock, Osteopathia striata, Abnormality of... ORPHA:2779
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Delayed puberty, Radial deviation of finger OMIM:233270
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cerebral atrophy, Developmental cataract, CNS hypomyelination, Cataract, Decreased circulating ce... OMIM:614482
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Athetosis, Growth delay, Dandy-Walker malformation, Silver-gray hair OMIM:257800
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Cerebral cortical hemiatrophy, Cerebellar hy... ORPHA:33445
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches, Gait disturbance ORPHA:2819
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, CNS hypomyelination, Long eyelashes, Cataract, Highly arched eyebrow, Microceph... OMIM:619286
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, CNS hypomyelination, Small for gestational age, Cataract, Microcephaly, Delayed... OMIM:615095
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Decreased LDL cholesterol concentration, Microcephaly, Failure to thrive,... OMIM:616834
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Alg2-Cdg
Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on MRI, Cataract, Micr... ORPHA:79326
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Macular hypoplasia, Blue irides OMIM:606574
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Polyendocrine-Polyneuropathy Syndrome
Cerebellar hypoplasia, Ataxia, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Oocyte Maturation Defect 12
Female infertility OMIM:619697
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Hyperintensity of cerebral whit... ORPHA:289494
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
CNS hypomyelination, Cerebral white matter atrophy, Microcephaly, Failure to thrive, Cerebral cor... ORPHA:369939
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypoplasia of penis, Short stature, Generalized hypopigmentation, Irregular hype... ORPHA:1816
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI, Leukodystr... ORPHA:527497
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Micropenis, Ataxia, Lissencephaly, Pachygyria, Postnatal gro... OMIM:300067
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract, Cerebral hypomyelination ORPHA:85163
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Failure to thrive, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:616494
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, CNS hypomyelination, Microcephaly, Failure to thrive, Cerebral hypomyelination OMIM:300475
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Hypopigmented skin patches, Abnormal calcium-phosphate regulating ... ORPHA:3453
Warburg Micro Syndrome 1
Cerebral atrophy, Developmental cataract, Hypertrichosis, Agenesis of corpus callosum, Microcorne... OMIM:600118
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Cerebral atrophy, Periventricular leukomalacia, Delayed CNS myelination, Hypoplasia of the corpus... OMIM:618875
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Fine hair, Mild malformation of cortical development, Fragile nails, ... ORPHA:500166
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Leukoencephalopathy, Cessation of head growth, Cerebral hypomyelin... OMIM:603896
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract, Hypogonadism ORPHA:2528
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Abnormal periventricular white matter morphology, Failure to... OMIM:616881
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, CNS hypomyelination, Microcephaly, Hypoplasia of the corpus callosum, Iris colo... OMIM:618012
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... ORPHA:170
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... OMIM:256710
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Short stature, Intrauterine growth retardation OMIM:618541
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Poor eye contact, Microcephaly, Failure to thrive, Del... OMIM:610883
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Cataract, Hirsutism, Small for gestational age ORPHA:85288
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI, Hyperme... ORPHA:88618
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Progesterone Resistance
Female infertility OMIM:264080
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Progressive microcephaly, CNS hypomyelination, Microcephaly, Leukodystrophy, Fa... OMIM:616420
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Cessation ... ORPHA:411515
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, ... OMIM:610023
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Intrauterine growth retardation, Cerebellar hypoplasia, Ataxia,... OMIM:616353
Giant Axonal Neuropathy
Woolly hair, Abnormality of the pituitary gland, CNS hypomyelination, Pili canaliculi ORPHA:643
Classic Phenylketonuria
Cerebral calcification, Hypopigmentation of hair, Memory impairment, Hypopigmentation of the skin... ORPHA:79254
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Failure to thrive, Delayed ... OMIM:616577
Al-Raqad Syndrome
Microcephaly, Hypopigmentation of the skin, Inability to walk, Unsteady gait OMIM:616459
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism ORPHA:2786
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral cortical atrophy, Secondary micr... OMIM:618559
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Foveal Hypoplasia 2
Microphthalmia, Posterior embryotoxon, Axenfeld anomaly, Hypoplasia of the fovea OMIM:609218
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Progressive microcephaly, CNS hypomyelination, Microcephaly, Hypoplasia of the ... OMIM:613477
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, CNS hypomyelination, Leukodystrophy, Cerebral cortical atrophy, Hy... OMIM:607694
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Poor eye contact OMIM:618276
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Progressive microcephaly, CNS hypomyelination, Microcephaly, Simplified gyral p... OMIM:615760
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Infantile spasms OMIM:278780
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Griscelli Syndrome Type 1
Premature graying of hair, Cerebral calcification, Ataxia, Partial albinism, White hair, Iris hyp... ORPHA:79476
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Leukodystrophy, Elevated circulating creatine kinase concentration, Pigmentary reti... OMIM:617613
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Corneal opacity, Microcephaly, Hypergastrine... OMIM:252650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Iris coloboma OMIM:616428
Spasticity, Childhood-Onset, With Hyperglycinemia
Hyperglycinemia, Leukodystrophy, Hypoplasia of the corpus callosum OMIM:616859
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Microcephaly, Leukodystrophy, Diffuse white matter abnormalities, Secondary microcephaly OMIM:616763
Developmental And Epileptic Encephalopathy 39
Cerebral hypomyelination, Poor eye contact OMIM:612949
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Developmental cataract, Hypoglycinemia, Cerebral white matter atrophy... ORPHA:79351
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Failure to thrive, Abnormal fingernail morphology ORPHA:2278
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Cataract, Microcephaly, Microphthalmia, Failure to thrive, Delayed m... OMIM:214150
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination, Poor eye contact OMIM:618557
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Iris transillumi... OMIM:619165
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Basal ganglia calcification, Postnatal growth retardation OMIM:615361
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Ataxia, Elevated urinary 3-hydroxybutyric ... ORPHA:391417
Kaya-Barakat-Masson Syndrome
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:619125
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, CNS hypomyelination, Cataract, Synophrys, Delayed CNS myelination, Hypoplasia o... OMIM:619260
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination, Progressive microcephaly, Lumbar hypertrichosis, Highly arched eyebrow, Micr... OMIM:618622
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Abnormality of the basal ganglia, CNS hypomyelination, Leukodystro... ORPHA:447896
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract, Fragile nails ORPHA:254704
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, CNS hypomyelination ORPHA:88637
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcornea, Cataract, Microcephaly, Simplified gyral pattern, Microphthalmia OMIM:616171
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, CNS hypomyelination, Cerebral hypomyelination OMIM:601170
Leukodystrophy, Hypomyelinating, 22
Astigmatism, CNS hypomyelination OMIM:619328
Phakomatosis Pigmentovascularis
Cerebral calcification, Cognitive impairment, Hypopigmented skin patches, Paresthesia, Cerebral c... ORPHA:2875
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Hyperm... ORPHA:79397
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Thin corpus callosum OMIM:619688
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Glutamine Deficiency, Congenital
CNS hypomyelination, Hypoglutaminemia, Hypoplasia of the corpus callosum, Dilation of lateral ven... OMIM:610015
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, CNS hypomyelination, Elevated circulating C-reactive protein concentr... OMIM:619423
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Hypopigmentation of the skin, Growth delay, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Hypopigmentation of the skin, Growth delay, Decreased ... ORPHA:71526
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Agenesis of corpus callosum, Microcephaly, Elevated circulating creatine kin... OMIM:616239
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
CNS hypomyelination, Failure to thrive, Corpus callosum atrophy, Cerebral hypomyelination, Second... OMIM:608809
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Peroxisome Biogenesis Disorder 11A (Zellweger)
Lissencephaly, Polymicrogyria, CNS hypomyelination, Failure to thrive OMIM:614883
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Cataract, Microphthalmia, Long finger... ORPHA:1617
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Pyruvate Carboxylase Deficiency
Hyperintensity of cerebral white matter on MRI, Hyperammonemia, Poor eye contact, Increased cauda... ORPHA:3008
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Peripheral hypomyelination, CNS hypomyelination, Decreased num... OMIM:214400
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Short stat... ORPHA:177910
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Phenylketonuria
Fair hair, Cerebral calcification, Blue irides, Microcephaly, Increased level of hippuric acid in... OMIM:261600
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Leukoencephalopathy, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:615281
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, CNS hypomyelination, Sudanophilic leukodystrophy, Microcephaly, Failure ... OMIM:312080
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Brittle hair, Developmental cataract, Sparse eyebrow, Hypocholesterol... OMIM:618810
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, CNS hypomyelination, Cachexia, Hypoplasia of the corpus callosum OMIM:618186
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, CNS hypomyelination, Thin corpus callosum, Leukodystrophy, Cerebra... OMIM:614381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Seizure OMIM:251270
Ddost-Cdg
Failure to thrive, Primary hypothyroidism, CNS hypomyelination ORPHA:300536
Null Syndrome
Demyelinating peripheral neuropathy, Peripheral demyelination, CNS hypomyelination ORPHA:280234
Mmep Syndrome
Cryptorchidism, Triphalangeal thumb, Microphthalmia, Split foot ORPHA:3434
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, CNS hypomyelination, Agenesis of corpus callosum, Hyperintensity of cer... ORPHA:481152
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Seizure, Alopecia OMIM:164180
Hereditary Methemoglobinemia
Abnormality of the nail, Small for gestational age, Temporal cortical atrophy, Small basal gangli... ORPHA:621
Developmental And Epileptic Encephalopathy 75
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral cortical atrophy, Secondary micr... OMIM:618437
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hy... ORPHA:79399
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Microcephaly, Generalized hypopigmentation, Hypoplasia of the corpus callosum OMIM:615075
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the fovea, Hypo... OMIM:604229
Leukodystrophy, Hypomyelinating, 6
Microcephaly, Leukodystrophy, Cerebral hypomyelination OMIM:612438
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Azoospermia, Hypopigmentation of the skin, Microcephaly, Short stature ORPHA:261519
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Seizure OMIM:274270
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Cataract, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia OMIM:616570
Cofs Syndrome
Cerebral calcification, Abnormality of retinal pigmentation, Cataract, Microcephaly, Microphthalm... ORPHA:1466
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Leukodystrophy, Leukoencephalopathy OMIM:614561
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Albinism, Blue i... OMIM:203200
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract, Hip dislocation OMIM:608763
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Corneal neovascularization, Aniridia, Abnormality... ORPHA:2334
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Preaxial polydactyly, Microphthalmia, Delayed puberty, Hypogonadism ORPHA:141333
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hyperlysinemia, Microcephaly, Leukodystrophy, Failure to thrive, Decreased plas... OMIM:616034
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Abnormality of the hypothalamus-pitu... ORPHA:139471
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Microcornea, Nail dysplasia, Trichorrhexis nodosa, Abnorma... OMIM:234050
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, Generalized hypopigmentation, White eyelashes OMIM:103500
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Microcephaly, Delayed CNS myelination, Periventricular white matter hyperintens... OMIM:618468
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Cessation ... ORPHA:411511
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Astigmatism, Microcephaly, Leukodystrophy, Pachygyria, Cerebral cortical atr... OMIM:619576
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Iri... OMIM:601706
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed myelination, CNS hypomyelination OMIM:616158
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Hypointensity of cerebral white matter on MRI OMIM:619196
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hyperintensity of cerebral white matter on MRI, Poor eye contact, Microcephaly, Diffuse cerebral ... ORPHA:438114
Developmental And Epileptic Encephalopathy 73
Cataract, Microcephaly, Failure to thrive, Delayed CNS myelination, Hypoplasia of the corpus call... OMIM:618379
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Ataxia, Irregular hyp... ORPHA:2885
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Microcornea, Sparse pubic hair, Highly arched eyebrow, Microp... OMIM:110100
Orofaciodigital Syndrome Xvii
Decreased body weight, CNS hypomyelination OMIM:617926
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral atrophy, Cerebral hypomyelination, Demyelinating motor neuropathy OMIM:608804
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Hypothyroidism, CNS hypomyelination, Panhypopituitarism, Hippocampal atrophy, M... OMIM:618922
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Long eyelashes, Microcornea, Cataract, Microphthalmia, Camptodacty... ORPHA:48431
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Faciothoracogenital Syndrome
Small nail, Microphthalmia OMIM:227320
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Lissenceph... OMIM:613153
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Cataract, Corneal opaci... ORPHA:317
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Delayed CNS myelination, Cerebral cortical atrophy, Frontal upsweep of hair, Hy... OMIM:300983
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Microcephaly, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus... OMIM:615966
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Cataract, Highly arched eyebrow, Microcephaly, Delayed CNS myelination OMIM:616154
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Folinic Acid-Responsive Seizures
Delayed myelination, Frontotemporal cerebral atrophy, Cerebral hypomyelination ORPHA:79097
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Absent pubic hair, Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Ele... ORPHA:90793
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Microcephaly, Leukodystrophy, Failure to thrive, Corpus callosum atr... OMIM:260600
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Microcephaly, Severe failure to thrive, Delayed CNS myelination, Cerebral... OMIM:215100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Hypoplasia of the corpus callosum, CNS hypomyelination, Sparse eyebrow, Microcephaly, Elevated ci... OMIM:617193
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Adenylosuccinase Deficiency
Cerebral atrophy, CNS hypomyelination, Poor eye contact, Microcephaly, Cerebral hypomyelination OMIM:103050
Congenital Varicella Syndrome
Microcephaly, Cataract, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Pachygyria, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, De... OMIM:614922
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Iris coloboma, Abnormal rib morphology ORPHA:195
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Pierpont Syndrome
Cryptorchidism, Microcornea, Microphthalmia, Short finger, High anterior hairline, Short toe, Pro... ORPHA:487825
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, Highly arched eyebrow, Primary microcephaly, Microcephaly, Broad eyebrow, ... ORPHA:457351
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Slc35A2-Cdg
Cerebral atrophy, Intrauterine growth retardation, Abnormal cerebral white matter morphology, Hyp... ORPHA:356961
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Cataract, Microphthalmia, Delayed CNS myelination, Hypoalbuminemia OMIM:618805
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Cessation of head ... ORPHA:98795
Developmental And Epileptic Encephalopathy 29
Microcephaly, Cerebral atrophy, Failure to thrive, CNS hypomyelination OMIM:616339
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Fine ha... ORPHA:1806
Hartnup Disease
Abnormal urinary color, Hypopigmented skin patches, Ataxia, Short stature, Irregular hyperpigment... ORPHA:2116
17Q12 Microduplication Syndrome
Microphthalmia, Seizure, Synophrys ORPHA:261272
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Pierpont Syndrome
Short palm, Cryptorchidism, Microcornea, Microphthalmia, Short finger, Short toe, High anterior h... OMIM:602342
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Cataract, Abnormal rib morphology,... ORPHA:93267
Methionine Malabsorption Syndrome
White hair, Blue irides, Seizure OMIM:250900
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Hypopigmentation of the skin, Intrauterine growth retardation ORPHA:261304
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Supernumerary ribs OMIM:221950
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Microcephaly, Leukodystrophy, Hypoplasia of the corpus callosum, Hirsutism OMIM:618006
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Microphthalmia, Split foot OMIM:601349
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypoplasia of the corpus callosum, Hypopigmentation of the skin, Ataxia... ORPHA:98794
Myoclonic-Astatic Epilepsy
Atonic seizure, Frontal balding, Generalized myoclonic seizure, Focal-onset seizure, Microphthalm... ORPHA:1942
Rodrigues Blindness
Sclerocornea, Microcornea, Fine hair, Microphthalmia, Sparse hair OMIM:268320
Developmental Delay With Variable Neurologic And Brain Abnormalities
Sparse lateral eyebrow, Astigmatism, Cataract, Down-sloping shoulders, Microphthalmia, Camptodactyly OMIM:619694
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Small for gestational age, Cataract, Microcephaly, Microphthalmia, Sparse... OMIM:610756
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Galactokinase Deficiency
Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Small for gestational age, Cataract, M... ORPHA:79237
Developmental And Epileptic Encephalopathy 35
Microcephaly, Cerebral atrophy, Cataract, Delayed CNS myelination OMIM:616647
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Generalized myoclonic seizure, Focal hyperkinetic seizure, Bilateral m... ORPHA:77299
Adams-Oliver Syndrome 2
Small nail, Microphthalmia, Low anterior hairline, Seizure OMIM:614219
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Metaphyseal spurs, Narrow greater sciatic notch, Brachydactyly, Bowing of the legs, ... ORPHA:85167
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Weight loss ORPHA:79238
Infantile Sialic Acid Storage Disease
Fair hair, Cerebral atrophy, Hypopigmentation of the skin, Nephrotic syndrome OMIM:269920
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Sclerocornea, Microcornea, Cataract, Microphthalmia, Precocious pub... OMIM:615877
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cryptorchidism, Cone-shaped epiphysis, Short phalanx ... OMIM:614613
Peroxisome Biogenesis Disorder 8B
Cataract, Leukodystrophy, Failure to thrive, Corpus callosum atrophy OMIM:614877
Peroxisomal Acyl-Coa Oxidase Deficiency
No social interaction, Leukodystrophy, CNS demyelination, Pigmentary retinopathy OMIM:264470
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Cognitive impairment, Hypopigmented skin patches, Vitiligo, Poliosis, ... ORPHA:3437
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Delayed CNS myelination, Small for gestationa... OMIM:618851
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Alopecia, Adrenal hyperplasia, Hirsutism, Increased ... OMIM:615830
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Cataract OMIM:611040
Anterior Segment Dysgenesis 2
Congenital aphakia, Sclerocornea, Cataract, Microcornea, Anterior segment of eye aplasia, Peters ... OMIM:610256
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol conce... ORPHA:247598
Fanconi Anemia, Complementation Group G
Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Pelizaeus-Merzbacher Disease In Female Carriers
Hyperintensity of cerebral white matter on MRI, Abnormal corpus callosum morphology, CNS hypomyel... ORPHA:280229
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Cerebral hypomyelination, Hypoplasia of the corpus callosum OMIM:612164
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Microphthalmia, Hypogonadism OMIM:601794
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea OMIM:300915
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Hyperthreoninemia, Keratoconus, Hyperthreoninuria OMIM:204000
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Developmental cataract, Hypertrichosis, Shallow anterior chamb... OMIM:614222
Curry-Jones Syndrome
Generalized hirsutism, Toe syndactyly, Foot polydactyly, Finger syndactyly, Hypopigmented skin pa... ORPHA:1553
Fanconi Anemia, Complementation Group J
Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Sandestig-Stefanova Syndrome
Developmental cataract, Small for gestational age, Highly arched eyebrow, Primary microcephaly, S... OMIM:618804
Alg3-Cdg
Hypopigmentation of the skin, Abnormal cerebral morphology, Cerebral white matter atrophy, Microc... ORPHA:79321
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Microphthalmia, Hypogonadism ORPHA:363741
Lissencephaly 8
Cataract, Microcephaly, Lissencephaly, Elevated circulating creatine kinase concentration, Hypopl... OMIM:617255
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Diabetes insipidus, Elevated circulating creatine ki... ORPHA:96180
Vici Syndrome
Renal tubular acidosis, Agenesis of corpus callosum, Ureteral atresia, Cerebellar hypoplasia, Abn... ORPHA:1493
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Abs... OMIM:619339
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Gracile Bone Dysplasia
Hypoplastic spleen, Brachydactyly, Thin ribs, Flared metaphysis, Asplenia, Slender long bone OMIM:602361
Combined Saposin Deficiency
CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal... OMIM:611721
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal localization of kidney, Short stature, Delayed puberty, Hypopigmented skin patches ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Microphthal... OMIM:615181
Bresek Syndrome
Cryptorchidism, Optic nerve hypoplasia, Microphthalmia, Postaxial hand polydactyly, Alopecia, Neo... ORPHA:85284
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Developmental cataract, Ocular anterior segment dysgenesis ORPHA:324416
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White forelock, Blue... OMIM:148820
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Corneal opacity, Crumpled long bones, Microphthalmia, Abnorm... ORPHA:2788
Kaufman Oculocerebrofacial Syndrome
Microcornea, Astigmatism, Sparse eyebrow, Sparse hair, Microcephaly, Failure to thrive, Hypoplasi... OMIM:244450
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation, Seizure ORPHA:858
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2251
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Short stature, Chorea, Exaggerated startle response, Post... ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Delayed myelination, CNS hypomyelination OMIM:618367
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Nephrotic syndr... OMIM:251300
Temtamy Syndrome
Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Short toe, Iris coloboma ORPHA:1777
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Failure to thrive, Macrogyria, Cerebral... ORPHA:280210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level,... ORPHA:95699
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Leukoencephalopathy, Basal ganglia calcification, Cereb... OMIM:618193
Cystinosis, Nephropathic
Glycosuria, Proteinuria, Polyuria, Pigmentary retinopathy, Retinal pigment epithelial mottling, M... OMIM:219800
Alg12-Cdg
Small nail, Hyponatremia, Progressive microcephaly, Cavum septum pellucidum, Failure to thrive, P... ORPHA:79324
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Small for gestational age, Pili torti, Microcornea, Cataract, Fine hair... OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Cataract, Abnormally large globe, ... OMIM:615249
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Delayed CNS myelination, CNS hypomyelination, Thin corpus callosum OMIM:619580
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Adrenal hyperplasia, Pigmented micronodular adrenocortical disease, Abnor... ORPHA:189439
Baraitser-Winter Syndrome 2
Microphthalmia, Seizure, Highly arched eyebrow OMIM:614583
Norrie Disease
Microphthalmia, Seizure, Hypoplasia of the iris OMIM:310600
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Widow's peak, Cataract, Microphthalmia, Postaxial hand polydactyly, ... OMIM:136760
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Abnormality of the diencephalon, Ataxia, Short stature, Ocular ... ORPHA:2720
Trichothiodystrophy 3, Photosensitive
Brittle hair, Developmental cataract, Cataract, Trichorrhexis nodosa, Microphthalmia, Failure to ... OMIM:616395
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Microcephaly, Short stature, Ocular albinis... ORPHA:999
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Cerebral atrophy, Delayed CNS myelination, Pigmentary retinopathy OMIM:619090
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Slender build, Increased serum estradiol, Increased circulating ... ORPHA:3455
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, CNS hypomyelination, Cachexia ORPHA:300605
Retinal Dystrophy With Leukodystrophy
Progressive microcephaly, CNS hypomyelination OMIM:618863
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Decreased body weight, Developmental cataract, Cataract, Microceph... OMIM:619420
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, CNS hypomyelination, Cataract, Microcephaly, Elevated circulating creatine kina... OMIM:615356
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Sparse eyebrow, Primary microcephaly, Elevated circulating cre... ORPHA:496641
Leukodystrophy, Hypomyelinating, 12
Hypoplasia of the corpus callosum, Microcephaly, Cerebral hypomyelination, Secondary microcephaly... OMIM:616683
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Frontal baldi... ORPHA:786
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Iris coloboma, Hypopigmentation... ORPHA:55
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microcephaly, Microphthalmia, Hypoplasia of the corpus callosum, Delayed myelination OMIM:614105
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Agenesis of corpus callosum, Optic nerve hypop... OMIM:614833
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Simplified gyral pattern, D... OMIM:619302
Alexander Disease
Diffuse demyelination of the cerebral white matter OMIM:203450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, CNS hypomyelination, Small for gestational age, Failure to thrive in infancy, Pos... ORPHA:268261
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Anterior rib punctate calcifications, Abnormality of the nail, Pat... ORPHA:35173
Microphthalmia With Limb Anomalies
Toe syndactyly, Anophthalmia, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, ... OMIM:206920
Fanconi Anemia, Complementation Group I
Hypothyroidism, Colpocephaly, Decreased body weight, Agenesis of corpus callosum, Astigmatism, Op... OMIM:609053
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Metaphyseal cupping, Micr... OMIM:300863
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Anophthalmia, Microphthalmia OMIM:248450
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of the nail, Abnormality of pelvic girdle bone morpholog... OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Buphthalmos, Cataract, Elevated circulating creatine kinase conce... OMIM:616538
Menkes Disease
Hypopigmentation of the skin, Microcephaly, Short stature, Intrauterine growth retardation OMIM:309400
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Aplasia/Hypoplasia of the corpus callosum, Cataract, Aplasia/Hypoplas... ORPHA:2611
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized reticulate brown pigmentatio... ORPHA:158681
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Aminoacylase 1 Deficiency
Cerebral atrophy, Delayed CNS myelination OMIM:609924
Oculocerebral Hypopigmentation Syndrome Of Preus
Growth delay, Generalized hypopigmentation OMIM:257790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Porphyria Variegata
Somatic sensory dysfunction, Hypopigmentation of the skin, Chronic kidney disease, Increased urin... ORPHA:79473
Leigh Syndrome With Leukodystrophy
Leukodystrophy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Pigmentary retinop... ORPHA:255241
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides, Cerebral cortical atrophy, Progressive gait... OMIM:105830
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Cataract, Optic nerve hypoplasia, Microcephaly, Decreased thalamic v... ORPHA:370959
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Galactosemia I
Hypergalactosemia, Cataract, Aminoaciduria, Increased level of galactitol in plasma, Failure to t... OMIM:230400
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Abnormality of the frontal hairline, Developmental cataract, Hypercal... ORPHA:557003
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Seizure OMIM:612530
Megalocornea
Corneal arcus, Iridodonesis, Astigmatism, Cataract, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Microcornea, Cataract, Cor... ORPHA:899
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Delayed social development, Delayed CNS myelination, Agenesis of corpus... OMIM:619301
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Hypopigmented skin patches, Proteinuria, Abnormality of retinal pigmentation, Sh... ORPHA:2715
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Cryptorchidism, Azoospermia, Abnormal spermatogenesis, Male hypogonadi... ORPHA:261529
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Intrauterine growth retardation, Nonprogressive cerebellar ataxia, Pos... OMIM:610198
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Hammertoe, Clinodactyly of the 5th finger, Microcornea, Cataract, Short thumb... ORPHA:2712
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Cataract, Fi... ORPHA:573
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Seizure OMIM:602501
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Hyperintensity of cerebral white matter on MRI, Leukodystrophy, Thin corpus ... OMIM:619708
Abetalipoproteinemia
Corneal ulceration, Hypothyroidism, Abnormality of retinal pigmentation, Hypotriglyceridemia, Dec... ORPHA:14
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Abnormal hair morphology, Cataract, Aminoaciduria ORPHA:414
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Hypopigmentation of hair, Anterio... ORPHA:98754
Tyrosinemia, Type Ii
Herpetiform corneal ulceration, Hypertyrosinemia OMIM:276600
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Blue irides, White eyelashes, Iris transillumination defe... ORPHA:352731
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Abnormal response to corticotropin releasing hormone stimulation test, Ma... ORPHA:189427
Incontinentia Pigmenti
Atrophic, patchy alopecia, Supernumerary ribs, Abnormality of skin pigmentation, Coarse hair, Hyp... OMIM:308300
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Nail dysplasia, Elevated circulating creatine kinase concentration, Alopecia, Delayed p... OMIM:615704
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum, Abnormal CNS myelination ORPHA:477673
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, U... ORPHA:137902
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microcephaly, Pigmentary retinopathy, Microphthalmia, Freckling, Abnormal CNS myelinati... OMIM:610651
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Secondary microcephaly OMIM:612233
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Hypopigmentation of hair, Anterio... ORPHA:98793
Trisomy 13
Abnormality of pelvic girdle bone morphology, Anophthalmia, Cryptorchidism, Abnormal eyelash morp... ORPHA:3378
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Postaxial hand polydactyly, Polydactyly OMIM:613885
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Obesity, Abnormal CNS myelination ORPHA:521390
Hypoparathyroidism, Familial Isolated, 1
Cerebral calcification, Hypocalcemia, Cataract, Hypoparathyroidism, Hyperphosphatemia, Decreased ... OMIM:146200
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Congenital hip dislocation, Decreased corneal thickness... OMIM:229200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Cataract, Corneal opacity, Microcephaly, Simplified gyral pattern, Micr... OMIM:152950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Hypopigmentation of hair, Anterio... ORPHA:177904
Nance-Horan Syndrome
Short metacarpal, Microcornea, Cataract, Microphthalmia ORPHA:627
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Frontofacionasal Dysplasia
Absent inner eyelashes, Microcornea, Aplasia/Hypoplasia of the eyebrow, Cataract, Microphthalmia,... ORPHA:1791
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Hypopigmentation of hair, Anterio... ORPHA:177901
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Cataract, Nail dysplasia, Sparse eyebrow, Fine hair,... OMIM:129500
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Developmental cataract, Microcornea, Perisylvian polymicrogyri... OMIM:615663
Hyperphosphatasia-Intellectual Disability Syndrome
Small nail, Shallow anterior chamber, Supernumerary nipple, Highly arched eyebrow, Cerebral hypom... ORPHA:247262
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia, Microcornea, Posterior lenticonus, Iris coloboma ORPHA:231736
Gaba-Transaminase Deficiency
Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Linear hyperpigmentation, Agenesis of corpus callosum, Hypo... OMIM:613001
Dpagt1-Cdg
Developmental cataract, Hypertrichosis, CNS hypomyelination, Astigmatism, Microcephaly, Failure t... ORPHA:86309
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Microcephaly, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Hypergonad... OMIM:212065
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Highly arched eyebrow, Microcephaly, Lissencephaly, Failure to thriv... OMIM:243310
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, Microcephaly, CNS hypomyelination OMIM:619322
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebral atrophy, Small for gestational age, Thick eyebrow, Cataract, Microcephaly, Leukodystroph... OMIM:615471
Fanconi Anemia, Complementation Group S
Clinodactyly, Long eyelashes, Ovarian neoplasm, Microphthalmia, Proximal placement of thumb, Low ... OMIM:617883
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, CNS hypomyelination, Opt... OMIM:619306
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism, Iridodonesis, Hypercholesterolemia, Hypoplasia of the iris, Microcephaly,... OMIM:249310
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Developmental cataract, Microcornea, Cataract, Microcephaly, M... OMIM:614225
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Failure to thrive, Hypoplasia of the corpus call... OMIM:614924
Chromosome 14Q11-Q22 Deletion Syndrome
Poor eye contact, Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum, Abnormal CN... OMIM:613457
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
Rothmund-Thomson Syndrome, Type 2
Zonular cataract, Cryptorchidism, Short thumb, Small hand, Microcornea, Cataract, Alopecia, Annul... OMIM:268400
Frontonasal Dysplasia 3
Microphthalmia, Sparse eyelashes, Absent eyebrow OMIM:613456
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Po... ORPHA:250972
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Clinodactyly of the 5th finger, Abnormal eyelash morphology, Sparse eyebrow, Catara...