| children | - 11q22.2q22.3 microdeletion syndrome 1229882003
- 16p13.2 microdeletion syndrome 1228890005
- 17q24.2 microdeletion syndrome 1229873009
- 1p35.2 microdeletion syndrome 1228844002
- 8q24.3 microdeletion syndrome 1229895008
- 9q33.3q34.11 microdeletion syndrome 1228886008
- Beta-D-mannosidosis 238047006
- Bohring Opitz syndrome 720565000
- Cardiocranial syndrome Pfeiffer type 720606005
- Clumsiness - motor delay 307653008
- Cognitive developmental delay 425805004
- Combined oxidative phosphorylation defect type 39 1279845005
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004
- Cyclin-dependent kinase-like 5 deficiency 773230003
- de Barsey syndrome 59252009
- Delay in sexual development AND/OR puberty 123526007
- Delayed pre-verbal development 229740001
- DEND syndrome 721088003
- Development delay NOS 288196003 removed: 2010-01-31
- Developmental delay in feeding 426881004
- Developmental delay in fine motor function 703477003
- Developmental delay in social skills 703478008
- Distal 16p11.2 microdeletion syndrome 733521003
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006
- Expressive language delay 229734008
- FG syndrome type 1 1237179007
- Frank-Ter Haar syndrome 720958002
- Global developmental delay 224958001
- GNAO1-related developmental delay, seizures, movement disorder spectrum 1281842000
- GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder 1260195002
- Gross motor development delay 430099007
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome 773581009
- Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001
- Joint contractures, developmental delay, Pierre Robin syndrome 1216940001
- Koolen De Vries syndrome 717338006
- Lethal polymalformative syndrome Boissel type 778026007
- Limb girdle muscular dystrophy due to POMK deficiency 1234819007
- Menke Hennekam syndrome 1260095004
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
- Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002
- Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome 722051004
- Oculocerebrodental syndrome 1255268002
- Pancytopenia with developmental delay syndrome 774071007
- PDE4D haploinsufficiency syndrome 1236843008
- Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language 870308001
- Phonological delay 229718005
- PPM-X syndrome 702356009
- Proximal 16p11.2 microdeletion syndrome 718227006
- PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007
- Receptive language delay 229736005
- RNF13-related severe early-onset epileptic encephalopathy 1222659003
- SATB2-associated syndrome 1208488006
- Severe achondroplasia, developmental delay, acanthosis nigricans syndrome 874931001
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome 1177175008
- Spastic paraplegia, severe developmental delay, epilepsy syndrome 1187278006
- Speech delay 229721007
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome 719833004
- WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome 1187247007
- Xp22.13p22.2 duplication syndrome 782877002
- Xq25 microduplication syndrome 1229872004
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