Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a ...

... disorder in their family. Birk-Barel mental retardation dysmorphism syndrome Birk-Barel syndrome Intellectual disability, Birk-Barel type Intellectual disability-hypotonia-facial dysmorphism syndrome Mental retardation with hypotonia and facial dysmorphism ...

... Rauch syndrome ASRAS Cardiac anomalies-developmental delay-facial dysmorphism syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and ...

... family. Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Genetic Testing Registry: Genitopatellar ...

... BMKS Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Oculo-oto-facial dysplasia Oculootofacial dysplasia OOFD ... Registry: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Burn-McKeown syndrome National Organization for Rare ...

... of the condition. Cerebrofaciothoracic dysplasia CFSMR CFTD Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Pascual-Castroviejo ...

... in their family. Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Genetic Testing Registry: Char ...

... Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ...

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...

... AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS Genetic ... AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome AHDC1-related intellectual disability-obstructive sleep apnea- ...