Microcephaly, and Sloping forehead

• Intellectual disability
• Microcephaly
• Sloping forehead

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Seizures
• Microcephaly
• Intellectual disability, mild
• Abnormality of the nervous system

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Short stature
• Microcephaly
• Absent speech
• Intellectual disability, moderate

SOURCES: OMIM MENDELIAN

• Seizures
• Microcephaly
• Cognitive impairment
• Intellectual disability, severe
• Retrognathia

SOURCES: OMIM MENDELIAN

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

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MESH MENDELIAN

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

• Microcephaly
• Growth delay
• Anemia
• Immunodeficiency
• Recurrent infections

SOURCES: OMIM MESH ORPHANET MENDELIAN

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

• Intellectual disability
• Seizures
• Short stature
• Microcephaly
• Hypertelorism

SOURCES: OMIM MESH MENDELIAN

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

• Seizures
• Generalized hypotonia
• Microcephaly
• Spasticity
• Feeding difficulties

SOURCES: OMIM MENDELIAN

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

• Intellectual disability
• Seizures
• Short stature
• Hearing impairment
• Microcephaly

SOURCES: OMIM MESH MENDELIAN