Abnormality of the skeletal system, and Bifid uvula

Low match CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX

• Cleft palate
• Bifid uvula
• Ankyloglossia
• Absent uvula

SOURCES: OMIM MENDELIAN

Low match BIFID UVULA

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

• Cleft lip
• Bifid uvula
• Submucous cleft soft palate
• Nasal, dysarthic speech

SOURCES: OMIM ORPHANET MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

• Intellectual disability
• Seizures
• Global developmental delay
• Cleft palate
• Cognitive impairment

SOURCES: OMIM MENDELIAN

Low match CATARACT 21, MULTIPLE TYPES; CTRCT21

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea

• Cataract
• Delayed speech and language development
• Atrial septal defect
• Microphthalmia
• Autism

SOURCES: ORPHANET OMIM MENDELIAN

Low match MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

• Short stature
• Scoliosis
• Cleft palate
• Pain
• Depressed nasal bridge

SOURCES: OMIM MENDELIAN

Low match JOUBERT SYNDROME 30; JBTS30

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

SOURCES: OMIM MENDELIAN

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

• Seizures
• Global developmental delay
• Short stature
• Brachydactyly
• Fever

SOURCES: OMIM MENDELIAN

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

• Short stature
• Growth delay
• Cleft palate
• Cognitive impairment
• Anemia

SOURCES: OMIM MENDELIAN

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

• Cleft palate
• Cataract
• Cryptorchidism
• Blindness
• Microphthalmia

SOURCES: ORPHANET MENDELIAN

Low match OROFACIODIGITAL SYNDROME TYPE 5

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

• Intellectual disability
• Scoliosis
• Hypertelorism
• Cleft palate
• Frontal bossing

SOURCES: ORPHANET MESH OMIM MENDELIAN