Patients with HIDEA syndrome in literature Current patient Total (%)
Subject Characteristics Subject Characteristics Subject Characteristics Subject Characteristics
Male 13/21 Male 14/22 (64)
Consanguineous 7 (13 NR) +
Ethnicity
10 Middle eastern 8 Caucasian 3 Turkish
Asian
Death Age of death (Median, years) 7 5 (7 months – 61 years)
Alive
15/21 (71)
Clinical Features Clinical Features Clinical Features Clinical Features
Dysmorphism 16/16 + 17/17 (100)
Thermoregulation abnormalities 4/15 - 4/16 (25)
Neurological Features Neurological Features Neurological Features Neurological Features
Microcephaly 5/21 - 5/22 (23)
Failure to thrive 2/21 - 2/22 (9)
Hypotonia 21/21 + 22/22 (100)
GDD/ID 21/21 + 22/22 (100)
Poor/Absent speech
13/18 3 NA
NA
13/18 (72)
Seizures 10/21 - 10/22 (45)
Independent walking 9/18 NA 9/18 (50)
MRI Abnormalities 4/7 - 4/8 (50)
Ophthalmological features Ophthalmological features Ophthalmological features Ophthalmological features
Poor vision 6/6 NA
Refractive error/strabismus 13/14 NA
Abnormal eye movements (Nystagmus, rotatory eye movements) 12/21 + 13/22 (59)
Respiratory features Respiratory features Respiratory features Respiratory features
Hypoventilation/bradypnea 11/19 + 12/20 (60)
Sleep Apnea 6/18 + 7/19 (36)
Respiratory support (BiPAP/HFNC) 6/13 + 7/14 (50)
Gastrointestinal Gastrointestinal Gastrointestinal Gastrointestinal
Constipation 11/20 - 11/21(52)
Skeletal Skeletal Skeletal Skeletal
Scoliosis 3/9 - 3/10 (30)