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Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
ORPHA:544488 · Disease · Disorder
HPO 表現型（共 56 項）
Frequent (79-30%)(19)
- Absent eyebrowHP:0002223
- Aggressive behaviorHP:0000718
- Attention deficit hyperactivity disorderHP:0007018
- Bilateral cryptorchidismHP:0008689
- Bilateral ptosisHP:0001488
- Bulbous noseHP:0000414
- Deeply set eyeHP:0000490
- Dilation of Virchow-Robin spacesHP:0012520
- Global developmental delayHP:0001263
- Hyperintensity of cerebral white matter on MRIHP:0030890
- HypertelorismHP:0000316
- Large for gestational ageHP:0001520
- Large foreheadHP:0002003
- MacrocephalyHP:0000256
- MacrotiaHP:0000400
- Neonatal hypotoniaHP:0001319
- PolyhydramniosHP:0001561
- Small nailHP:0001792
- Sparse eyelashesHP:0000653
Occasional (29-5%)(37)
- Abnormal cerebellar vermis morphologyHP:0002334
- Absent eyelashesHP:0000561
- Absent speechHP:0001344
- AlopeciaHP:0001596
- AsthmaHP:0002099
- Atypical behaviorHP:0000708
- BlepharophimosisHP:0000581
- Broad foreheadHP:0000337
- Celiac diseaseHP:0002608
- Chronic constipationHP:0012450
- Clinodactyly of the 5th fingerHP:0004209
- Dilated third ventricleHP:0007082
- Downslanted palpebral fissuresHP:0000494
- Dysplastic corpus callosumHP:0006989
- Hypoplastic toenailsHP:0001800
- Increased nuchal translucencyHP:0010880
- Inguinal herniaHP:0000023
- Keratosis pilarisHP:0032152
- Lateral ventricle dilatationHP:0006956
- Non-convulsive status epilepticus without comaHP:0032671
- Periventricular cystsHP:0007109
- Poor speechHP:0002465
- Preauricular skin tagHP:0000384
- Recurrent ear infectionsHP:0410018
- RetrognathiaHP:0000278
- Rib fusionHP:0000902
- Sacral dimpleHP:0000960
- SeizureHP:0001250
- Self-injurious behaviorHP:0100716
- Sensorineural hearing impairmentHP:0000407
- Sparse eyebrowHP:0045075
- Sparse scalp hairHP:0002209
- SpasticityHP:0001257
- Tapered fingerHP:0001182
- Tapered toeHP:0011309
- Thick corpus callosumHP:0007074
- Vascular skin abnormalityHP:0011276