Presentation
Entire Body System
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Short Stature
stature deafness neutrophil dysfunction Short stature syndrome, Brussels type Short stature wormian bones dextrocardia Short stature-craniofacial anomalies-genital hypoplasia syndrome SHORT syndrome Short-chain acyl-CoA dehydrogenase deficiency Short-limb [rarediseases.info.nih.gov]
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Anemia
[…] type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital ectodermal dysplasia with hearing loss Congenital erythropoietic porphyria Congenital extrahepatic portosystemic shunt Congenital femoral deficiency [rarediseases.info.nih.gov]
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Lymphedema
[…] and cerebral arteriovenous anomaly Lymphedema, microcephaly and chorioretinopathy syndrome Lymphedema-distichiasis syndrome Lynch syndrome - Not a rare disease Lysinuric protein intolerance Mac Dermot Winter syndrome Macrocephaly, benign familial Macrocephaly-short [rarediseases.info.nih.gov]
Eyes
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Ectopia Lentis
lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz type Bone dysplasia lethal Holmgren type Book syndrome Boomerang dysplasia BOR-Duane [rarediseases.info.nih.gov]
Musculoskeletal
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Torticollis
Maffucci syndrome Majeed syndrome Male pseudohermaphroditism due to defective LH molecule Male pseudohermaphroditism intellectual disability syndrome, Verloes type Malignant Atrophic Papulosis Malignant hyperthermia Malignant hyperthermia arthrogryposis torticollis [rarediseases.info.nih.gov]
Neurologic
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Convulsions
Microcephaly brain defect spasticity hypernatremia Microcephaly cervical spine fusion anomalies Microcephaly deafness syndrome Microcephaly glomerulonephritis Marfanoid habitus Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions [rarediseases.info.nih.gov]
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Seizure
[…] syndrome Becker muscular dystrophy Becker nevus syndrome Beckwith-Wiedemann syndrome Beemer Ertbruggen syndrome Behr syndrome Benallegue Lacete syndrome Benign essential blepharospasm Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures [rarediseases.info.nih.gov]