Adolescent idiopathic scoliosis
Arthrogryposis multiplex congenita
Asperger
Autism
Bardet-Biedl syndrome
Beckwith-Wiedemann syndrome
Cornelia de Lange syndrome
CHARGE syndrome
Charcot-Marie-Tooth disease
Cockayne syndrome
Craniofacial
Crouzon
Hemophagocytic lymphohistiocytosis
Idiopathic short stature
Kallmann syndrome
Lethal congenital contracture syndrome
Limb-girdle muscular dystrophy
Levy-Hollister syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome
Metaphyseal dysplasia, Spahr type
McKusick Kaufman syndrome
Microphthalmia
Mucolipidosis
Mucopolysaccharidosis
Mowat-Wilson
Myhre
N-terminal acetyltransferase deficiency
Osteoglophonic dysplasia
Pfeiffer syndrome
Phosphoglycerate dehydrogenase deficiency
Pitt-Hopkins syndrome
Roberts-SC phocomelia syndrome
Rett syndrome
Small for gestational age
Spondyloepimetaphyseal dysplasia Missouri type
Smith-Kingsmore syndrome
Seckel syndrome
Tatton-Brown-rahman syndrome
Visceral heterotaxy 5
Autosomal recessive congenital ichthyosis
Autosomal recessive cutis laxa
BCS1L gene
Bardet–Biedl syndrome
Brachydactyly
Chondrodysplasia
Creutzfeldt-Jakob disease
Congenital adrenal hyperplasia
Congenital disorder of glycosylation
Congenital disorder of glycosylation type 1N
Coffin-Siris syndrome 1
Costello syndrome
Diffuse mesangial sclerosis
Dystonia
Eating
Friedreich's ataxia
Familial dyskinesia with facial myokymia
Glutaric acidemia II
Ghosal hematodiaphyseal
Hair
Huntington disease
Hermansky-Pudlak
Hirschsprung disease
Joubert syndrome
Limb-girdle muscular dystrophy
Lipodystrophy
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Methylmalonic acidemia
Microcephaly
Migraine
Movement
Neuromuscular
Noonan syndrome
Noonan- like syndrome with loose anagen hair
Papillon-Lefèvre syndrome
Pitt-Hopkins-like syndrome
Pseudoxanthoma elasticum
Reticulosis
Rhizomelic chondrodysplasia punctata
Rubinstein-Taybi syndrome
Spinocerebellar ataxia Type 3
SHORT syndrome
Sjogren-Larsson syndrome
Telangiectasia
Tuberous Sclerosis Complex
Tay-Sachs disease
Von Hippel-Lindau syndrome
Vogt-Koyanagi- Harada Disease
Wolfram