Neoplasm, and Thick eyebrow

Low match TRICHOMEGALY; TCMGLY

TRICHOMEGALY; TCMGLY Is also known as eyelashes, long

• Cataract
• Thick eyebrow
• Hypertrichosis
• Long eyelashes
• Spherocytosis

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45

• Intellectual disability
• Seizures
• Wide nasal bridge
• Coarse facial features
• Deeply set eye

SOURCES: OMIM MENDELIAN

Low match X-LINKED EXTERNAL AUDITORY CANAL ATRESIA-DILATED INTERNAL AUDITORY CANAL-FACIAL DYSMORPHISM SYNDROME

SOURCES: ORPHANET MENDELIAN

Low match HOLOPROSENCEPHALY 11; HPE11

• Global developmental delay
• Microcephaly
• Cleft palate
• Agenesis of corpus callosum
• Proptosis

SOURCES: OMIM MENDELIAN

Low match PROGRESSIVE ESSENTIAL TREMOR-SPEECH IMPAIRMENT-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-ABNORMAL BEHAVIOR SYNDROME

• Intellectual disability
• Global developmental delay
• Tremor
• Intellectual disability, severe
• Long philtrum

SOURCES: ORPHANET OMIM MENDELIAN

Low match MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

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

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

• Intellectual disability
• Seizures
• Hearing impairment
• Ataxia
• Abnormal facial shape

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

• Seizures
• Global developmental delay
• Visual impairment
• Wide nasal bridge
• Anteverted nares

SOURCES: ORPHANET OMIM MENDELIAN

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Ataxia

SOURCES: OMIM ORPHANET MENDELIAN