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Items: 3

1.

Al-Gazali syndrome

Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018). [from OMIM]

MedGen UID:
373020
Concept ID:
C1836121
Disease or Syndrome
2.

Endove syndrome, limb-brain type

Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem (Allou et al., 2021). [from OMIM]

MedGen UID:
1782954
Concept ID:
C5543142
Disease or Syndrome
3.

Gastrojejunal tube feeding in infancy

Feeding problem necessitating gastrojejunal tube feeding. [from HPO]

MedGen UID:
896852
Concept ID:
C4280681
Finding
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