Bamforth-Lazarus syndrome- MedGen UID:
- 343420
- •Concept ID:
- C1855794
- •
- Disease or Syndrome
Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).
Spinocerebellar ataxia, autosomal recessive 23- MedGen UID:
- 1667331
- •Concept ID:
- C4750914
- •
- Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014).
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities- MedGen UID:
- 1857802
- •Concept ID:
- C5935590
- •
- Disease or Syndrome
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).
Neuroocular syndrome 1- MedGen UID:
- 1053724
- •Concept ID:
- CN377731
- •
- Disease or Syndrome
Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).
Genetic Heterogeneity of Neuroocular Syndrome
See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.