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Items: 3

1.

Neurooculocardiogenitourinary syndrome

Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019). [from OMIM]

MedGen UID:
1684841
Concept ID:
C5231443
Disease or Syndrome
2.

Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020). [from OMIM]

MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
3.

Abnormality of the palmar creases

An abnormality of the creases of the skin of palm of hand. [from HPO]

MedGen UID:
526186
Concept ID:
C0221199
Congenital Abnormality
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