Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Amish lethal microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Secondary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Achalasia microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Stimmler syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
3-phosphoglycerate dehydrogenase deficiency infantile form |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Anonychia with microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Aphalangy and syndactyly with microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Autosomal dominant primary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Cleft palate, large ears, small head syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Congenital intrauterine infection-like syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hennekam Beemer syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Autosomal recessive primary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Deficiency of leukotriene C4 synthase |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Lowry Wood syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Goldberg Shprintzen megacolon syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Filippi syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hypocalcaemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hypophosphataemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hydromicrocephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Hall Riggs syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Jawad syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Autosomal dominant sideroblastic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Autosomal dominant sideroblastic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Lowry MacLean syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Microcephalic osteodysplastic dysplasia Saul Wilson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Haemolytic anaemia due to red cell enolase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Haemolytic anaemia due to red cell enolase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Haemoglobin Paksé disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Haemoglobin Paksé disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Haemoglobin Seal Rock disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Haemoglobin Seal Rock disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Haemolytic anaemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Haemolytic anaemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephaly cardiomyopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Microcephaly cleft palate syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Microcephaly with cervical spine fusion anomaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Seemanova Lesny syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Microcephaly with albinism and digital anomaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Microcephaly with cardiac defect and lung malsegmentation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Drug-induced non autoimmune haemolytic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Drug-induced non autoimmune haemolytic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Acquired iron deficiency anaemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired iron deficiency anaemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Acquired iron deficiency anaemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired iron deficiency anaemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Post gastrectomy iron deficiency anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Post gastrectomy iron deficiency anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephalus, brain defect, spasticity, hypernatraemia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Mikati Najjar Sahli syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Say Barber Miller syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Microcephalus, lymphoedema, chorioretinopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephaly with simplified gyral pattern |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
MMEP syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Microcephaly-capillary malformation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Microcephaly, thin corpus callosum, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Felty's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Neu-Laxova syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Oro-facial digital syndrome type 14 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Oculo-palato-cerebral syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
MacDermot Winter syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Severe neonatal onset encephalopathy with microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Child HC < 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Child HC = 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Child HC 0.5th - 1.9th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Child head circumference = 2nd centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |