Rare Disease Library

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Pilarowski-Bjornsson syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

SETBP1 haploinsufficiency disorder · Intellectual disability-loss of expressive language-facial dysmorphism syndrome

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

OBSOLETE: Grix-Blankenship-Peterson syndrome

OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome