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21-hydroxylase deficiency
47 XXY syndrome
47 X-X-Y syndrome
47,XXY/46,XY
47,XXY/46,XY mosaicism
5p minus syndrome
7q11.23 deletion syndrome
Aarskog disease
Aarskog syndrome
Aarskog-Scott syndrome
AAS
Aase syndrome
Aase-Smith I syndrome
Aase-Smith syndrome
Achondrogenesis
Achondroplasia
Achondroplastic dwarfism
Acquired bronchiectasis
Acquired growth hormone deficiency
Addison anemia
Adrenogenital syndrome
Adrenoleukodystrophy
Adrenoleukodystrophy
Adrenomyeloneuropathy
Afibrinogenemia
Agenesis of corpus callosum with chorioretinal abnormality
Agenesis of corpus callosum with infantile spasms and ocular abnormalities
AI
Aicardi syndrome
ALD
Alpha-L-iduronate deficiency
Alport syndrome
Alstrom syndrome
Alström syndrome
Amelogenesis imperfecta
Anemia - atrophic gastritis
Anemia - IF
Anemia - intrinsic factor
Anencephaly
Antithrombin III deficiency - congenital
Aortic coarctation
Aprosencephaly with open cranium
Atrial septal defect (ASD)
Attenuated MPS I
Autonomic crises - familial dysautonomia
Bartter syndrome
Beckwith-Wiedemann syndrome
Bernard-Soulier syndrome
Beuren syndrome
Biermer anemia
Birth defect heart - ASD
Birth-acquired herpes
Bonnevie-Ullrich syndrome
Brittle bone disease
Bronchiectasis
CAH
Callosal agenesis and ocular abnormalities
Cat cry syndrome
CDH
Chediak-Higashi syndrome
Childhood cerebral adrenoleukodystrophy
Choanal atresia
Chorioretinal anomalies with ACC
Chromosome 5p deletion syndrome
Chronic lung disease - brochiectasis
Chronic lung disease - bronchiectasis
CLCD
Cleft lip and palate
Cleft palate
Cleidocranial dysostosis
Cleidocranial dysplasia
CMV - congenital
Coarctation of the aorta
Congenital adrenal hyperplasia
Congenital antithrombin III deficiency
Congenital bronchiectasis
Congenital CMV
Congenital cranial osteoporosis
Congenital cytomegalovirus
Congenital defect - epispadias
Congenital disease
Congenital dislocation of the hip
Congenital dysplasia of the hip
Congenital enamel hypoplasia
Congenital fibrinogen deficiency
Congenital growth hormone deficiency
Congenital heart - hypoplastic left heart
Congenital heart defect - ASD
Congenital heart defect - VSD
Congenital heart disease
Congenital heart disease - pulmonary atresia
Congenital hernia of the diaphragm
Congenital hernia of the diaphragm (CDH)
Congenital herpes
Congenital hypertrophic pyloric stenosis
Congenital hypothyroidism
Congenital lues
Congenital megacolon
Congenital nephrotic syndrome
Congenital pernicious anemia
Congenital platelet function defects
Congenital protein C or S deficiency
Congenital rubella
Congenital spherocytic hemolytic anemia
Congenital syphilis
Congenital toxoplasmosis
Craniofacial defect
Craniosynostosis
Craniotabes
Cretinism
Cri du chat syndrome
Cyanotic heart disease
Cyanotic heart disease - hypoplastic left heart
Cyanotic heart disease - pulmonary atresia
Cytomegalovirus - congenital
DDH
De Toni-Fanconi syndrome
De Toni-Fanconi-Debré syndrome
Deficiency - antithrombin III - congenital
Dento-osseous dysplasia
Developmental dislocation of the hip joint
Developmental dysplasia of the hip
Developmental hip dysplasia
Diamond-Blackfan with AS-II
Diaphragmatic hernia
Differences of sex development
Disorders of sex development
DSD
DSDs
Dwarf
Dwarfism
Dysfibrinogenemia
Dysplasia cleidocranial
Dystrophic epidermolysis bullosa
Eagle-Barrett syndrome
EB
Edwards syndrome
Elfin facies syndrome
Epidermolysis bullosa
Epidermolysis bullosa simplex
Epispadias
Facial-digital-genital syndrome
Faciodigitogenital syndrome
Factor I deficiency
Familial dysautonomia
Familial dysautonomia
Fanconi syndrome
FD
Fetal syphilis
Fontanelle - craniosynostosis
Fructose 1, 6 bisphosphate aldolase deficiency
Fructose aldolase B-deficiency
Fructose intolerance
Fructose-1, 6-bisphosphate aldolase deficiency
Fructosemia
Gaciogenital dysplasia
Gastric outlet obstruction
Gaucher disease
Gaucher's disease
Glanzmann's thrombasthenia
Glucocerebrosidase deficiency
Glucosylceramidase deficiency
GM2 gangliosidosis - Tay-Sachs
Gonadal dysgenesis
Growth hormone deficiency - children
Hematuria - nephropathy - deafness
Hemidesmosomal epidermolysis bullosa
Hemolytic anemia - spherocytic
Hemorrhagic familial nephritis
Hereditary deafness and nephropathy
Hereditary fructose intolerance
Hereditary nephritis
Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Hereditary spherocytic anemia
Hereditary spherocytosis
Hermaphrodite
Hermaphroditism
Hernia - diaphragmatic
Hernia - hiatal
Herpes - congenital
Herpes during pregnancy
HGPS
Hiatal hernia
Hirschsprung disease
Hirschsprung's disease
HLHS
Horner syndrome
Horner's syndrome
HSV
Hunter syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
Hydrocephalus-cleft palate-joint contractures syndrome
Hypertrophic pyloric stenosis
Hypofibrinogenemia
Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type
Hypoplastic anemia/Triphalangeal thumb syndrome
Hypoplastic left heart syndrome
Hypothyroidism - infants
I2S deficiency
Iduronate 2-sulfatase deficiency
Iduronate sulfatase deficiency
Inborn errors of metabolism
Infantile hypertrophic pyloric stenosis
Intersex
Interventricular septal defect
Isolated growth hormone deficiency
Junctional epidermolysis bullosa
Juvenile pernicious anemia
Klein-Waardenburg syndrome
Klinefelter syndrome
Kugelberg Welander
Kugelberg-Welander disease
LEOPARD syndrome
Lesch-Nyhan syndrome
Lucey-Driscol syndrome
Lucey-Driscoll syndrome
Lysosomal storage disease - Gaucher
Lysosomal storage disease - mucopolysaccharidosis type I
Lysosomal storage disease - mucopolysaccharidosis type II
Lysosomal storage disease - mucopolysaccharidosis type III
Lysosomal storage disease - Tay-Sachs disease
Macrocytic achylic anemia
Marie-Sainton syndrome
Meckel diverticulum
Metabolism - inborn errors of
Methylmalonic acidemia
Monosomy X
Mosaic syndrome
MPS 1 H/S
MPS I H
MPS I S
MPS II
MPS III
MPS IIIA
MPS IIIB
MPS IIIC
MPS IIID
Mucopolysaccharidosis type I
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type II
Mucopolysaccharidosis type II, Iduronate sulfatase deficiency
Mucopolysaccharidosis type III
Multiple lentigines syndrome
Neonatal hypothyroidism
Neonatal phenylketonuria
Nephrotic syndrome - congenital
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines
NSML
Obstruction of the ureteropelvic junction
Oculosympathetic paresis
OI
Osteodental dysplasia
Osteogenesis imperfecta
PA/IVS
Panhypopituitarism
Patau syndrome
Pavlik harness
Pernicious anemia
Phenylketonuria
Pierre Robin anomaly
Pierre Robin complex
Pierre Robin sequence
Pierre Robin sequence
Pierre Robin syndrome
Pituitary dwarfism
PKU
Plagiocephaly
Platelet function defects - congenital
Platelet storage pool disorder
Poly-X Klinefelter syndrome
Potassium wasting
Prader-Willi syndrome
Pregnancy and herpes
Premature closure of sutures
Primum ASD
Progeria
Protein C deficiency
Protein S deficiency
Prune belly syndrome
Pseudohermaphroditism
Pulmonary atresia
Pulmonary atresia - intact ventricular septum
Pyloric stenosis in infants
Right-to-left cardiac shunt
Right-to-left circulatory shunt
Riley-Day syndrome
RSS
Rubinstein syndrome, RTS
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Russell-Silver syndrome
Salt-wasting nephropathy
Sanfilippo syndrome
Scaphocephaly
Scheie syndrome
Schilder-Addison Complex
Secundum ASD
Severe MPS I
Short stature - growth hormone deficiency
Silver syndrome
Silver-Russell syndrome
Soft spot - craniosynostosis
Spherocytosis
Spinal muscular atrophy
Synostosis
Tay-Sachs disease
Tracheomalacia - congenital
Transient familial hyperbilirubinemia
Triad syndrome
Trisomy 13
Trisomy 18
Turner syndrome
Type 1 tracheomalacia
UP junction obstruction
Ureteropelvic junction obstruction
Ureteropelvic junction obstruction
Urethral obstruction malformation sequence
Valve - disorder pulmonary atresia
Ventricular septal defect
Vitamin B12 deficiency (malabsorption)
Vomiting - pyloric stenosis
VSD
Waardenburg syndrome
Waardenburg-Shah syndrome
WBS
Weber-Cockayne syndrome
Werdnig-Hoffmann disease
Williams syndrome
Williams-Beuren syndrome
Xeroderma pigmentosum
X-linked Adrenoleukodystrophy
XO
XXY syndrome
XXY trisomy
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