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Hhhh syndrome(HHHH)

MedGen UID:
336099
Concept ID:
C1844019
Disease or Syndrome
Synonym: HHHH
 
Cytogenetic location: Xp21.1-q21.31
 
Monarch Initiative: MONDO:0010608
OMIM®: 306960

Clinical features

From HPO
Hemiatrophy
MedGen UID:
451036
Concept ID:
C0333662
Pathologic Function
Undergrowth of the limbs that affects only one side.
Hemiparesis
MedGen UID:
6783
Concept ID:
C0018989
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.

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