A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
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inherited bleeding disorder, platelet-type
MONDO:0000009
infantile liver failure
MONDO:0000023
febrile seizures, familial
MONDO:0000032
hereditary hypophosphatemic rickets
MONDO:0000044
hypothyroidism, congenital, nongoitrous
MONDO:0000045
isolated microphthalmia
MONDO:0000062