Symptoms

Absent metatarsal bone

Absent microvilli on the surface of peripheral blood lymphocytes

Absent middle phalanx of 2nd finger

Absent middle phalanx of 3rd finger

Absent middle phalanx of 4th finger

Absent middle phalanx of 5th finger

Absent middle phalanx of the 3rd toe

Absent mindedness

Absent muscle dystrophin expression

Absent muscle fiber alpha sarcoglycan

Absent muscle fiber beta sarcoglycan

Absent muscle fiber calpain-3

Absent muscle fiber delta sarcoglycan

Absent muscle fiber dysferlin

Absent muscle fiber emerin

Absent muscle fiber gamma sarcoglycan

Absent muscle fiber merosin

Absent nail of hallux

Absent nails

Absent nares

Absent nasal bridge

Absent nasal cartilage

Absent nasal septal cartilage

Absent natural killer cells

Absent neutrophil lactoferrin

Absent neutrophil specific granules

Absent nipple

Absent or diminished pulse

Absent or minimally ossified vertebral bodies

Absent ossification of calvaria

Absent ossification of capital femoral epiphysis

Absent ossification of cervical vertebral bodies

Absent ossification of the trapezium

Absent ossification of thoracic vertebral bodies

Absent otoacoustic emissions

Absent outer dynein arms

Absent palatine bone ossification

Absent palmar crease

Absent pancreatic amylase

Absent pancreatic enzymes

Absent pancreatic lipase

Absent pancreatic trypsin

Absent paranasal sinuses

Absent patellar reflexes

Absent penis

Absent periods

Absent peripheral lymph nodes in presence of infection

Absent phalangeal crease

Absent pigmentation of chest

Absent pigmentation of the abdomen

Absent pigmentation of the limbs

Absent pigmentation of the ventral chest

Absent pituitary stalk

Absent platelet dense granules

Absent posterior alpha rhythm

Absent primary metaphyseal spongiosa

Absent proximal finger flexion creases

Absent proximal phalanx of the 3rd toe

Absent proximal phalanx of thumb

Absent proximal radial epiphyses

Absent pubertal growth spurt

Absent pubic hair

Absent pubic hair

Absent pulmonary artery

Absent pulse

Absent radius

Absent ray

Absent reflexes

Absent respiratory ciliary axoneme radial spokes

Absent retinal pigment epithelium

Absent right sided atrioventricular connection

Absent right superior vena cava

Absent scalp hair

Absent scaphoid

Absent scrotum

Absent sebaceous glands

Absent second fingernail

Absent sense of smell

Absent septum pellucidum

Absent skin pigmentation

Absent smooth pursuit

Absent soft palate

Absent specific antibody response

Absent speech

Absent speech development

Absent sperm axoneme central pair complex

Absent sperm flagella

Absent spinous processes of lower thoracic and lumbar vertebrae

Absent stapes

Absent stapes head

Absent sternal ossification

Absent stratum granulosum of epidermis

Absent styloid process of ulna

Absent superficial temporal artery pulse

Absent tendon reflexes

Absent testis

Absent thoracic vertebra

Absent thumb

Absent thumbnail

Absent tibia