Autosomal recessive
Still birth neo natal death.
Death in infancy/childhood.
Hydramnios/ployhydramnios.
Small for gestational age.
Very thin build.
Decreased body hair.
Patches of skin hypoplasia.
Plagiocephaly.
Facies significantly abnormal.
Hypertonism.
M idface hyperplasia.
M icrocephaly.
Grooved chin
Abnormal facial clefts.
Absent eyebrows.
Coloboma of the eyelid.
Corneal clouding.
Short small nose |
Cleft nose
Lateral cleft lip
Oral synechiae
Abnormally placed nipples.
Webbing
Syndactly of fingers.
Talipes
Missing toes.
Imperforate anus.
Small penis
Scrotal abnormality
Abnormal external femasle genitalia
Uterine vaginal abnormality
Carpal osteolysis
Symphalangism
Othrer knee defects.
Tiblae absent
Other phalangeal abnormalities |
