Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities- MedGen UID:
- 1648498
- •Concept ID:
- C4748135
- •
- Disease or Syndrome
Short stature, oligodontia, dysmorphic facies, and motor delay- MedGen UID:
- 1787876
- •Concept ID:
- C5543206
- •
- Disease or Syndrome
SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020).
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies- MedGen UID:
- 1794208
- •Concept ID:
- C5561998
- •
- Disease or Syndrome
SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed (Kambouris et al., 2014; Zahra et al., 2020).
Developmental and epileptic encephalopathy 100- MedGen UID:
- 1809351
- •Concept ID:
- C5676932
- •
- Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.