Abnormal facial shape, and Abnormality of movement

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape
• Cognitive impairment

SOURCES: OMIM MESH MENDELIAN

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

• Falls
• Pulmonary hypoplasia
• Renal agenesis
• Renal dysplasia
• Redundant skin

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 101; MRX101

• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 72; MRX72

• Intellectual disability
• Seizures
• Global developmental delay
• Macrocephaly
• Obesity

SOURCES: OMIM MESH MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 107; MRX107

• Intellectual disability
• Global developmental delay
• Abnormal facial shape
• Behavioral abnormality
• Upslanted palpebral fissure

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Ataxia

SOURCES: ORPHANET OMIM MENDELIAN

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Growth delay
• Delayed speech and language development

SOURCES: MESH OMIM MENDELIAN

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

• Seizures
• Global developmental delay
• Microcephaly
• Abnormal facial shape
• Spasticity

SOURCES: OMIM MENDELIAN

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hypertelorism

SOURCES: OMIM MENDELIAN