|
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
|
13271 |
|
|
frontonasal dysplasia 3; FND3
|
http://purl.obolibrary.org/obo/MONDO_0013271 |
|
|
intellectual developmental disorder, autosomal recessive 69
|
32715 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
|
32715 |
|
|
AMELOGENESIS IMPERFECTA, TYPE IIIC
|
32717 |
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72
|
32710 |
|
|
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
|
32714 |
|
|
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
|
32717 |
|
|
Mental Retardation, Autosomal Recessive 69
|
32715 |
|
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
|
32712 |
|
|
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
|
32716 |
|
|
epileptic encephalopathy, early infantile, 72
|
32710 |
|
|
ALX1-related frontonasal dysplasia
|
13271 |
|
|
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
|
32714 |
|
